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Del Mar Pharmaceuticals to Present New Pre-clinical Data Related to the Mechanism of VAL-083 at the AACR Annual Meeting in April 2012

Tue, 07 Feb 2012 15:30:00 +0000

Del Mar Pharmaceuticals to Present New Pre-clinical Data Related to the Mechanism of VAL-083 at the AACR Annual Meeting in April 2012

PR Newswire

VANCOUVER, British Columbia , Feb. 7, 2012 /PRNewswire/ -- Del Mar Pharmaceuticals today announced that a pre-clinical abstract entitled, "VAL083, a novel N7 alkylating agent, surpasses temozolomide activity and inhibits cancer stem cells providing a new potential treatment option for glioblastoma multiforme," will be presented April 1, 2012 at the American Association for Cancer Research (AACR) Annual Meeting, which is being held March 31 thru April 4, 2012 in Chicago, USA.

VAL-083 represents a 'first in class' small-molecule chemotherapeutic, which has been assessed in multiple NCI-sponsored clinical studies. Published pre-clinical and clinical data suggest that VAL-083 may be active against a range of tumor types, including glioblastoma multiforme (GBM), the most common and aggressive form of brain cancer. Del Mar Pharma has initiated a Phase I/II clinical trial of VAL-083 in patients with recurrent GBM, from which data are anticipated later this year.

Temozolomide (Temodar™) in combination with radiation is a standard front-line therapy for the treatment of newly diagnosed GBM; however, the majority of patients fail to respond to treatment. Published research suggests that the activity of a naturally occurring DNA repair enzyme called O6-methylguanine-DNA methyltransferase (MGMT) may be responsible for resistance to temozolomide and other alkylating agents used in the treatment of GBM.

"These pre-clinical data from human brain tumor cell lines distinguishes VAL-083 from standard-of-care by demonstrating that the unique mechanism and anti-tumor activity of VAL-083 is independent of MGMT-related drug resistance," said Jeffrey Bacha, President & CEO of DelMar Pharma. "We believe that this work, which is ongoing, illustrates the promise of VAL-083 in refractory GBM and may allow physicians to eventually tailor therapy for those less likely to respond to the current front-line standard-of-care."

VAL-083 was recently designated as an orphan drug for the treatment of glioma by the United States FDA Office of Orphan Products Development. Among the benefits of orphan designation in the United States are seven years of market exclusivity following FDA approval, waiver or partial payment of application fees, and tax credits for clinical testing expenses conducted after orphan designation is received.

About the VAL-083 Clinical Study
Del Mar Pharma is sponsoring a Phase I/II open-label, single arm dose-escalation study designed to evaluate the safety, tolerability, pharmacokinetics and anti-tumor activity of VAL-083 in patients with histologically confirmed initial diagnosis of primary WHO Grade IV malignant glioma (GBM), now recurrent. The study is being conducted under the direction of Dr. Howard Burris at the Sarah Cannon Research Institute in Nashville, Tennessee.

Patients with prior low-grade glioma or anaplastic glioma are eligible, if histologic assessment demonstrates transformation to GBM. Patients must have been previously treated for GBM with surgery and/or radiation, if appropriate, and must have failed both Bevacizumab (Avastin^®) and temozolomide (Temodar^®), unless either or both are contra-indicated.

Response to therapy and disease progression will be evaluated by MRI prior to each treatment cycle. An initial phase of the study, currently being enrolled, involves dose escalation cohorts until a maximum tolerated dose (MTD) is established in the context of modern care. Once the modernized dosing regimen has been established, additional patients will be enrolled at the MTD (or other selected optimum dosing regimen).

Further information on this clinical trial can be found at http://www.clinicaltrials.gov/ct2/show/NCT01478178?term=val-083&rank=1
ClinicalTrials.gov Identifier: NCT01478178

About Glioblastoma Multiforme (GBM)
Glioblastoma multiforme (GBM) is the most common and most malignant form of brain cancer. Of the estimated 17,000 primary brain tumors diagnosed in the United States each year, approximately 60% are gliomas. Attention was drawn to this form of brain cancer when Senator Ted Kennedy was diagnosed with glioblastoma and ultimately died from it.

Newly diagnosed patients suffering from GBM are initially treated through invasive brain surgery, although disease progression following surgical resection is nearly 100%. Temozolomide (Temodar™) in combination with radiation is the front-line therapy for GBM following surgery. Temodar™ currently generates more than US$950 million annually in global revenues primarily from the treatment of brain cancer.

Approximately 60% of GBM patients treated with Temodar® experience tumor progression within one year. Bevacizumab (Avastin®) has been approved for the treatment of GBM in patients failing Temodar®. According to the Avastin® label, approximately 20% of patients failing Temodar™ respond to Avastin™ therapy. Analysts anticipate annual Avastin® revenues for the treatment of brain cancer may reach US$650 million by 2016.

Approximately 48% of patients who are diagnosed with GBM will fail both front-line therapy and Avastin™. Del Mar Pharma estimates that the market for treating GBM patients post-Avastin failure exceeds US$200 million annually in North America.

About VAL-083
VAL-083 represents a 'first in class' small-molecule chemotherapeutic. VAL-083 has been assessed in multiple NCI-sponsored clinical studies in various cancers including lung, brain, cervical, ovarian tumors and leukemia. Published pre-clinical and clinical data suggest that VAL-083 may be active against a range of tumor types. VAL-083 is approved as a cancer chemotherapeutic in China for the treatment of chronic myelogenous leukemia and solid tumors, including lung cancer.

Based on published research, the mechanism of action of VAL-083 is understood to be a bi-functional alkylating agent; however, the functional groups associated with alkylating events has been shown to differ from other alkylating agents used in the treatment of GBM.

VAL-083 has demonstrated activity in cyclophosphamide, BCNU and phenylalanine mustard resistant cell lines and no evidence of cross-resistance has been encountered in published clinical studies. Based on the presumed alkylating functionality of VAL-083, published literature suggests that DNA repair mechanisms associated with Temodar and nitrosourea resistance, such as 06-methylguanine methyltransferase (MGMT), may not confer resistance to VAL-083.

VAL-083 readily crosses the blood brain barrier where it maintains a long half-life in comparison to the plasma. Published preclinical and clinical research demonstrates that VAL-083 is selective for brain tumor tissue.

VAL-083 has been assessed in multiple studies as chemotherapy in the treatment of newly diagnosed and recurrent brain tumors. In general, tumor regression was achieved following therapy in greater than 40% of patients treated and stabilization was achieved in an additional 20% - 30%. In published clinical studies, VAL-083 has previously been shown to have a statistically significant impact on median survival in high-grade gliomas when combined with radiation vs. radiation alone.

The main dose-limiting toxicity related to the administration of VAL-083 in previous clinical studies was myelosuppression. No significant hepatic, renal or pulmonary toxicity has been reported in the literature or overseas commercial experience.

About Del Mar Pharma
Del Mar Pharmaceuticals was founded in 2010 to develop and commercialize proven cancer therapies in new orphan drug indications where patients are failing modern targeted or biologic treatments. The Company's lead asset, VAL-083, benefits from extensive clinical research sponsored by the US National Cancer Institute, and is currently approved as a cancer chemotherapeutic overseas. Published pre-clinical and clinical data suggests that VAL-083 may be active against a range of tumor types via a novel mechanism of action.

For further information, please visit www.delmarpharma.com or contact Jeffrey A. Bacha, President & CEO +1 (604) 629-5989

SOURCE Del Mar Pharmaceuticals

Jennerex Publishes Data on JX-594 Cancer Targeting Mechanisms

Tue, 07 Feb 2012 12:00:00 +0000

Jennerex Publishes Data on JX-594 Cancer Targeting Mechanisms

-- JX-594 Selectivity is Multi-Mechanistic, Driven by Genetic Traits Common in Solid Tumors --

PR Newswire

SAN FRANCISCO, Feb. 7, 2012 /PRNewswire/ -- Jennerex, Inc., a private clinical-stage biotherapeutics company focused on the development and commercialization of first-in-class targeted oncolytic virus products for cancer, today announced the publication in Molecular Therapy of data validating the mechanisms by which its lead product, JX-594, selectively targets and kills a broad range of cancer cells.

The study demonstrated that JX-594's cancer-selectivity was multi-mechanistic and dependent on the biological traits common to cancer cells that allow them to rapidly expand and avoid destruction by the immune system. Specifically, replication of JX-594 was activated by epidermal growth factor receptor (EGFR)/Ras pathway signaling, cellular thymidine kinase (TK) levels, and cancer cell resistance to type I interferons (IFNs).

JX-594 was tested in multiple models, including human tumor tissue and normal tissue from surgical samples. The article, entitled 'The Oncolytic Poxvirus JX-594 Selectively Replicates in and Destroys Cancer Cells Driven by Genetic Pathways Commonly Activated in Cancers,' was published in January in the online edition of Molecular Therapy, the official journal of The American Society of Gene & Cell Therapy. The study was led by authors Kelley A. Parato, Ph.D., of Ontario Hospital Research Institute's Centre for Innovative Cancer Research and Caroline J. Breitbach, Ph.D., director, clinical & translational research, of Jennerex.

"We believe that this study clearly explains how JX-594 is able to specifically target and destroy cancer cells in patients while leaving the surrounding healthy cells intact. This has translated into strong clinical data for JX-594, including tumor destruction and a favorable safety profile in Phase 2 clinical trials," said David H. Kirn, M.D., president and chief medical officer of Jennerex. "Importantly, these data confirm that JX-594 has a large therapeutic index that is driven by the common genetic traits present in the vast majority of patients' cancers, including colorectal, lung, liver and others."

JX-594: A Multi-Mechanistic Approach To Targeting Cancer

JX-594 is a proprietary, engineered oncolytic virus that is designed to selectively target and destroy cancer cells. JX-594 is designed to attack cancer through three diverse mechanisms of action: 1) the lysis of cancer cells through viral replication, 2) the shutdown of the blood supply to tumors through vascular targeting and destruction, and 3) the stimulation of the body's immune response against cancer cells, i.e., active immunotherapy. Phase 1 and Phase 2 clinical trials in multiple cancer types to date have shown that JX-594, delivered either directly into tumors or systemically, induces tumor shrinkage and/or necrosis and is well-tolerated by patients (over 120 treated to date). Objective tumor responses have been demonstrated in a variety of cancers including liver, colon, kidney, lung cancer and melanoma. JX-594 has had a favorable safety profile to date with predictable and generally mild side effects that typically include flu-like symptoms that resolve in 24 to 48 hours.

JX-594 is the most advanced product candidate from Jennerex's proprietary SOLVE™ (Selective Oncolytic Vaccinia Engineering) platform. SOLVE takes advantage of the natural attributes of poxviruses as well as their ability to be genetically engineered to produce safe, therapeutic viruses that can infect solid tumors both systemically and locally. The vaccinia poxvirus strain backbone of JX-594 has been used safely in millions of people as part of a worldwide vaccination program. This strain naturally targets cancer cells due to common genetic defects in cancer cells. JX-594 was engineered to enhance this natural safety and cancer-selectivity by deleting its thymidine kinase (TK) gene, thus making it dependent on the cellular TK expressed at persistently high levels in cancer cells. To enhance product efficacy, JX-594 is also engineered to express the immunogenic GM-CSF protein. GM-CSF complements the cancer cell lysis of the product candidate, leading to a cascade of events resulting in tumor necrosis, tumor vasculature shutdown and sustained anti-tumoral immune attack.

About Jennerex's Partners for JX-594

Transgene (NYSE Euronext Paris: FR0005175080), a bio-pharmaceutical company specialized in the development of immunotherapeutic products, holds an exclusive license to develop and commercialize JX-594 in Europe and neighboring countries. Green Cross Corporation, a leading company in the development, manufacturing, and commercialization of viral vaccines and other biological products, holds an exclusive license to develop and commercialize JX-594 in South Korea, and Lee's Pharmaceutical Ltd. holds an exclusive license to develop and commercialize JX-594 in China.

Transgene, a member of the Institut Merieux Group, is a publicly traded French biopharmaceutical company dedicated to the development of therapeutic vaccines and immunotherapeutic products in oncology and infectious diseases, and has five compounds in clinical development: TG4010 and JX-594 (TG6006) having completed initial phase II trials, TG4001 in phase IIb trial, TG4040 in phase II trial and TG4023 in phase I trial. Transgene has concluded strategic agreements for the development of two of its immunotherapy products, an option agreement with Novartis for the development of TG4010 to treat various cancers, and an in-licensing agreement with U.S.-based Jennerex Biotherapeutics, Inc., to develop and market JX-594 (TG6006), an oncolytic product. Transgene has bio-manufacturing capacities for viral-based products. Additional information about Transgene is available on the internet at www.transgene.fr

Green Cross Corp. is a publicly traded and leading Korean biopharmaceutical company specialized in development and commercialization of vaccines, plasma-derivatives, recombinant proteins and therapeutic antibodies in oncology and infectious diseases. Green Cross Corp. has been collaborating with Jennerex in Korea since 2006 to jointly conduct the Phase 1 and 2 clinical trials in patients with liver cancer. Additional information about Green Cross Corp. is available on the internet at www.greencross.com.

Lee's Pharmaceutical Holdings Limited is a public biopharmaceutical company with over 16 years operation in China's pharmaceutical industry. It is fully integrated with solid infrastructures in drug development, clinical development, regulatory, manufacturing, sales and marketing in China with global perspectives and currently markets nine products. Lee's Pharma focuses on several different areas such as cardiovascular and infectious diseases, dermatology, oncology, gynecology and others. It has more than 30 products under different development stages stemming from both internal R&D as well as from the recent acquisition of licensing and distribution rights from various U.S. and European companies. The mission of Lee's is to become a successful biopharmaceutical group in Asia providing innovative products to fight diseases and improve health and quality of life. Additional information about Lee's Pharma is available on the internet at www.leespharm.com.

About Jennerex

Jennerex, Inc. is a clinical-stage biotherapeutics company focused on the development and commercialization of first-in-class, breakthrough targeted oncolytic products for cancer. The Company's lead product JX-594 is currently in an international, randomized Phase 2b clinical trial (TRAVERSE) in patients with advanced primary liver cancer who have failed sorafenib therapy. In addition, JX-594 is being tested in the same patient population in combination with sorafenib. JX-594 is also in a Phase 1 clinical trial in patients with treatment-refractory colorectal cancer. Published studies designed to establish optimal dose levels and the safety profile of JX-594 have shown its ability to selectively target and cause destruction of a variety of common cancer types. JX-594 and other product candidates under development are designed to attack cancer tumors through three diverse mechanisms of action: the lysis of cancer cells through viral replication, the ablation of the blood supply to tumors through vascular targeting and destruction and the stimulation of the body's immune response against the cancer. Jennerex is headquartered in San Francisco and has related research and development operations in Ottawa, Canada and Pusan, South Korea. For more information about Jennerex, please visit www.jennerex.com.

SOURCE Jennerex, Inc.

Commercializing Angiogenesis Affecting Drugs in Cancer: The Faster Route to Consider Your Options and Position of Others

Mon, 06 Feb 2012 09:20:01 +0000

Commercializing Angiogenesis Affecting Drugs in Cancer: The Faster Route to Consider Your Options and Position of Others

PR Newswire

NEW YORK, Feb. 6, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Commercializing Angiogenesis Affecting Drugs in Cancer: The Faster Route to Consider Your Options and Position of Others

http://www.reportlinker.com/p0769058/Commercializing-Angiogenesis-Affecting-Drugs-in-Cancer-The-Faster-Route-to-Consider-Your-Options-and-Position-of-Others.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Pathology

This report will excel your competitive awareness and decrease your decision making time in managing angiogenesis affecting drug development in cancer. Find out whether you are number one, two or further down the ladder in this highly competitive market. Locate the right drugs to benchmark against and see were others may have succeeded or failed before you.

A large number of drugs, both on the market and in development have angiogenesis affecting properties.This report includes both direct angiogenic targets (angiogenesis-related targets) and indirect angiogenic targets (non-angiogenic targets which nevertheless have angiogenesis effects).

This report comprises defined and up to date development strategies for 252 angiogenesis affecting drugs in oncology within the portfolio of 151 companies world-wide, from Ceased to Marketed. The report extensively analyses their 177 identified drug targets, organized into 170 drug target strategies, and assesses them in 70 cancer indications. BioSeeker has applied its unique drug assessment methodology to stratify the angiogenesis affecting drug pipeline in oncology and discern the level of competition in fine detail.

Major Findings from this report:

* The identified competitive landscape of angiogenesis affecting drugs in cancer is split between the half which have unique drug target strategies and the other half which have head-to-head target competing drugs in 44 different clusters. The latter has a competing ratio which is almost two times higher than the comparable average of the angiogenesis affecting drugs in general.

* Eight out of every ten drug target strategies in Phase III development are new to angiogenesis affecting drugs, whereas only five out of every ten target strategies in Phase II are new.

* The greatest number of new target strategies are found in Preclinical (21%) and Phase II (18%) development.

* Small molecules, Antibodies and Proteins drugs are the dominating compound strategies of angiogenesis affecting cancer drugs, which represent almost 80% of the entire pipeline.

* Protein based angiogenesis affecting cancer drugs has the highest cross-over of drug target strategies with other compound strategies, especially with that of Antibodies and Gene therapies.

* Angiogenesis affecting drugs are experiencing targeting competition in five out of every ten cancer indications described, and more so in colorectal cancer, breast cancer and non-small cell lung cancer..

* The highest number of described target strategies among angiogenesis affecting drugs are found in colorectal cancer, breast cancer, non-small cell lung cancer and ovarian cancer.

* The highest number of described drug target strategies of angiogenesis affecting drugs belongs to Pfizer, Novartis, Abbott, Eli Lilly, EntreMed and Exelixis.

The report is written for you to understand and assess the impact of competitor entry and corresponding changes to development strategies for your own portfolio products. It helps teams to maximize molecule value by selecting optimal development plans and manage risk and uncertainty. The report serves as an external commercial advocate for pharmaceutical companies' pipeline and portfolio planning (PPP) in cancer by:

* Providing you with competitive input to the R&D organization to guide development of early product ideas and ensure efforts are aligned with business objectives

* Assisting you to make informed decisions in selecting cancer indications that are known to be appropriate for your drug's properties

* Analyzing, correlating and integrating valuable data sources in order to provide accurate data for valuation of pipeline, in-licensing and new business opportunities

* Providing you with commercial analytic support for due diligence on in-licensing and acquisition opportunities

* Supporting development of integrative molecule, pathway and disease area strategies

* Integrating knowledge for you to consider the therapeutic target for the highest therapeutic outcome and return on investment

This report provides systems, analytical and strategic support both internally to PPP and to stakeholders across your own organization. The report will also be an important part of creating and implementing a market development plan for any angiogenesis affecting drug in cancer to ensure that the optimal market conditions exist by the time the product is commercialized.1 Executive Summary 32 About Cancer Highlights™ 52.1 Cancer Focus Areas 52.2 Subscribe Today and Start Saving 62.2.1 Type of License 62.3 Additional Information 62.4 BioSeeker Group's Oncology Team 63 Methodology 73.1 Cancer Highlights'™ Five Pillar Drug Assessment 74 Table of Contents 94.1 List of Figures 224.2 List of Tables225 Introduction 375.1 The Scope of this Report 375.2 Definitions 405.3 Abbreviations 406 Consider the Therapeutic Target Among Angiogenesis Affecting Drugs in Oncology for the Highest Therapeutic Outcome and Return on Investment 416.1 Drug Repositioning in Oncology 416.2 Introduction to Targets of Angiogenesis Affecting Drugs in Oncology 426.2.1 Calcium Ion Binding Targets 486.2.2 Carboxy-lyase Activity Targets 496.2.3 Catalytic Activity Targets 516.2.4 Cell Adhesion Molecule Activity Targets 566.2.5 Chaperone Activity Targets 636.2.6 Chemokine Activity Targets 676.2.7 Cofactor Binding Targets 696.2.8 Cysteine-type Peptidase Activity Targets 716.2.9 Cytokine Activity Targets 766.2.10 Cytoskeletal Protein Binding Targets 806.2.11 DNA Topoisomerase Activity Targets 816.2.12 DNA-directed DNA Polymerase Activity Targets 846.2.13 Extracellular Matrix Structural Constituent Targets 856.2.14 G-protein Coupled Receptor Activity Targets 916.2.15 Growth Factor Activity Targets 966.2.16 GTPase Activity Targets 1126.2.17 Hormone Activity Targets 1156.2.18 Hydrolase Activity Targets 1166.2.19 Kinase Activity Targets 1186.2.20 Kinase Binding Targets 1216.2.21 Lipid Kinase Activity Targets 1236.2.22 Metallopeptidase Activity Targets 1306.2.23 Molecular Function Unknown Targets 1486.2.24 Motor Activity Targets 1496.2.25 Oxidoreductase Activity Targets 1516.2.26 Peptidase Activity Targets 1536.2.27 Phosphoric Diester Hydrolase Activity Targets 1696.2.28 Protease Inhibitor Activity Targets 1726.2.29 Protein Binding Targets 1766.2.30 Protein Serine/Threonine Kinase Activity Targets 1806.2.31 Protein-tyrosine Kinase Activity Targets 2096.2.32 Receptor Activity Targets 2206.2.33 Receptor Binding Targets 2456.2.34 Receptor Signaling Protein Serine/Threonine Kinase Activity Targets 2516.2.35 RNA Binding Targets 2536.2.36 Serine-type Peptidase Activity Targets 2546.2.37 Structural Constituent of Cytoskeleton Targets 2596.2.38 Superoxide Dismutase Activity Targets 2616.2.39 Transcription Factor Activity Targets 2646.2.40 Transcription Regulator Activity Targets 2776.2.41 Transferase Activity Targets 2846.2.42 Translation Regulator Activity Targets 2866.2.43 Transmembrane Receptor Activity Targets 2936.2.44 Transmembrane Receptor Protein Tyrosine Kinase Activity Targets 2956.2.45 Transporter Activity Targets 3486.2.46 Ubiquitin-specific Protease Activity Targets 3526.2.47 Unknown Function Targets 3536.2.48 Voltage-gated Ion Channel Activity Targets 3546.3 The Cancer Genome Project and Targets of Angiogenesis Affecting Drugs in Oncology 3556.3.1 Targets of Angiogenesis Affecting Drugs in Oncology Present in the Cancer Gene Census and in the Catalogue of Somatic Mutations in Cancer 3556.4 Angiogenesis Affecting Therapeutics is Stimulated by Available Structure Data on Targets 3606.5 Target-Target Interactions among Identified Targets of Angiogenesis Affecting Drugs in Oncology 3646.6 The Drug-Target Competitive Landscape 3686.7 Protein Expression Levels of Identified Targets of Angiogenesis Affecting Drugs in Oncology 3726.8 Pathway Assessment of Angiogenesis Affecting Drugs in Oncology 3756.8.1 Tools for Analysis of Cancer Pathways 3766.8.2 Pathway Assessment 3777 Emerging New Products to Established Ones: Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology by their Highest Stage of Development 4247.1 Pre-registration to Marketed: New and Unique Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology 4267.2 Phase III Clinical Development: New and Unique Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology 4287.3 Phase II Clinical Development: New and Unique Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology 4317.4 Phase I Clinical Development: New and Unique Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology 4387.5 Preclinical Development: New and Unique Drug Target Strategies of Angiogenesis Affecting Drugs in Oncology 4467.6 Drug Target Strategies of No Data, Suspended or Terminated Angiogenesis Affecting Drugs in Oncology 4507.7 Target Strategy Development Profiles of Angiogenesis Affecting Drugs in Oncology 4547.7.1 Marketed 4587.7.2 Pre-registration 4737.7.3 Phase III 4777.7.4 Phase II 5157.7.5 Phase I 5517.7.6 Preclinical 5827.7.7 Suspended 6187.7.8 Ceased 6197.8 The Competition Through Close Mechanistic Approximation of Angiogenesis Affecting Drugs in Oncology 6608 Compound Strategies at Work: Competitive Benchmarking of Angiogenesis Affecting Cancer Drugs by Compound Strategy 6678.1 Small Molecules 6698.1.1 Background 6698.1.2 Target Strategies of Small Molecule Drugs 6708.2 Peptide & Protein Drugs 6828.2.1 Background 6828.2.2 Target Strategies of Peptide and Protein Drugs 6838.3 Antibodies 6898.3.1 Background 6898.3.2 Target Strategies of Antibody Drugs 6898.4 Nucleic Acid Therapies 6948.4.1 Background 6948.4.2 Target Strategies of Nucleic Acid Drugs 6958.5 Gene Therapy 6978.5.1 Background 6978.5.2 Target Strategies of Gene Therapy Drugs 6978.6 Drug Delivery and Nanotechnology 7008.6.1 Background 7008.6.2 Target Strategies of Reformulated Drugs 7008.7 Compound Strategies based on Sub-Cellular Localization of Drug Targets 7039 Selecting Indication for Angiogenesis Affecting Drugs in Oncology 7109.1 Acute Lymphocytic Leukemia 7139.2 Acute Myelogenous Leukemia 7149.3 Adrenal Cancer 7179.4 B-cell Lymphoma 7189.5 Basal Cell Cancer 7199.6 Biliary Cancer 7209.7 Bladder Cancer 7219.8 Bone Cancer 7249.9 Brain Cancer 7259.10 Breast Cancer 7289.11 Cancer (general) 7349.12 Carcinoid 7359.13 Cervical Cancer 7379.14 Chemopreventative 7389.15 Chronic Lymphocytic Leukemia 7399.16 Chronic Myelogenous Leukemia 7409.17 Chronic Myelomonocytic Leukemia 7419.18 CNS Cancer 7419.19 Colorectal Cancer 7429.20 Endometrial Cancer 7489.21 Fallopian Tube Cancer 7509.22 Fibro Sarcoma 7529.23 Gastrointestinal Cancer (general) 7539.24 Gastrointestinal Stomach Cancer 7569.25 Gastrointestinal Stromal Cancer 7599.26 Head and Neck Cancer 7619.27 Hematological Cancer (general) 7649.28 Hodgkin's Lymphoma 7659.29 Kaposi's Sarcoma 7669.30 Leiomyo Sarcoma 7679.31 Leukemia (general) 7689.32 Lipo Sarcoma 7699.33 Liver Cancer 7709.34 Lung Cancer (general) 7749.35 Lymphangioleiomyomatosis 7769.36 Lymphoma (general) 7779.37 Mast Cell Leukemia 7799.38 Mastocytosis 7799.39 Melanoma 7809.40 Mesothelioma 7849.41 Myelodysplastic Syndrome 7879.42 Myeloma 7899.43 Nasopharyngeal Cancer 7929.44 Neuroendocrine Cancer (general) 7939.45 Neuroendocrine Cancer (pancreatic) 7949.46 Neurofibromatosis 7969.47 non-Hodgkin's Lymphoma 7979.48 Non-Small Cell Lung Cancer 7999.49 Oesophageal Cancer 8059.50 Oral Cancer 8079.51 Osteo Sarcoma 8089.52 Ovarian Cancer 8099.53 Pancreatic Cancer 8139.54 Peritoneal Cancer 8169.55 Prostate Cancer 8189.56 Radio/chemotherapy-induced Alopecia 8229.57 Radio/chemotherapy-induced Infection 8229.58 Renal Cancer 8239.59 Sarcoma (general) 8289.60 Small Cell Lung Cancer 8309.61 Soft Tissue Sarcoma 8339.62 Solid Tumor 8359.63 Squamous Cell Cancer 8399.64 Synovial Sarcoma 8409.65 T-cell Lymphoma 8419.66 Testicular Cancer 8429.67 Thyroid Cancer 8439.68 Unspecified 8459.69 Vaccine adjunct 8489.70 Waldenstrom's hypergammaglobulinemia 84810 Pipeline and Portfolio Planning: Competitive Benchmarking of the Angiogenesis Affecting Drug Pipeline in Oncology by Investigator 84910.1 Changes in the Competitive Landscape: M&A, Bankruptcy and Name Change 85310.2 Company Facts and Ranking 85510.3 Competitive Fall-Out Assessment 86110.4 Abbott 86410.5 Acceleron Pharma 87510.6 Access 87910.7 Active Biotech 88310.8 Adherex 88710.9 Advantagene 89510.10 Advaxis 90110.11 Advenchen 90510.12 Aeterna Zentaris 90910.13 Agennix 91610.14 Aida Pharmaceuticals 92010.15 Alnylam 92410.16 Ambit Biosciences 92810.17 Ambrilia Biopharma 93410.18 Amgen 93810.19 Amphora 94610.20 Angiogen 95010.21 Angiogenex 95410.22 Angstrom Pharmaceuticals 95810.23 Ansaris 96210.24 Antisoma 96610.25 Arana Therapeutics 97010.26 Ariad 97410.27 Arno Therapeutics 98410.28 ArQule 98810.29 Array BioPharma 99410.30 Astellas 99810.31 Astex Therapeutics 100410.32 AstraZeneca 100810.33 Attenuon 101610.34 Austrianova 102210.35 Bayer 102610.36 BioAlliance Pharma 103610.37 BioAxone 104110.38 Biocad 104510.39 Boehringer Ingelheim 105110.40 Bolder BioTechnology 105710.41 Bristol-Myers Squibb 106310.42 BTG 107510.43 Cancer Research Technology 108110.44 CDG Therapeutics 108510.45 Celecure 108910.46 Celera 109310.47 Celgene 109710.48 Cell Therapeutics 110510.49 CellCeutix 111010.50 Cellmid 111410.51 Cephalon 111810.52 ChemoCentryx 112210.53 Chemokine Therapeutics 112610.54 China Sky One Medical 113010.55 Choongwae 113410.56 Circadian Technologies 113910.57 Cue Biotech 114410.58 Curis 114810.59 Cyclacel 115410.60 Cytochroma 115810.61 Deciphera Pharmaceuticals 116210.62 Dendreon 116610.63 Dyax 117010.64 Eisai 117410.65 Eli Lilly 118110.66 EntreMed 119510.67 Exelixis 120610.68 ExonHit Therapeutics 121810.69 Five Prime Therapeutics 122210.70 GammaCan 122610.71 Genmab 123310.72 Gilead Sciences 124010.73 GlaxoSmithKline 124710.74 GlycoGenesys 125410.75 Green Cross 125910.76 Hoffmann-La Roche 126410.77 Hy BioPharma 127610.78 Idera Pharmaceuticals 128010.79 ImClone Systems 128710.80 ImmunoGen 129210.81 ImmuPharma 129610.82 Introgen Therapeutics 130010.83 Isis Pharmaceuticals 130510.84 Johnson & Johnson 130910.85 KAI Pharmaceuticals 131710.86 Karus Therapeutics 132210.87 Kirin Pharma 132610.88 Kringle Pharma 133010.89 Kyowa Hakko Kirin 133410.90 Lee's Pharmaceutical 134010.91 Lorus Therapeutics 134410.92 MAT Biopharma 134810.93 MediGene 135210.94 Merck & Co 135810.95 Merck KGaA 136210.96 Mersana Therapeutics 136910.97 MethylGene 137310.98 Micromet 137710.99 MolMed 138110.100 Morvus Technology 138610.101 NewSouth Innovations 139010.102 Non-industrial Source 139410.103 Novartis 139810.104 Novelix 141710.105 Noxxon 142110.106 Oasmia 142510.107 Onconova 142910.108 OncoTherapy Science 143510.109 Oncothyreon 144110.110 OSI Pharmaceuticals 144610.111 Oxford BioMedica 145110.112 OXiGENE 145510.113 Pepscan Therapeutics 146110.114 PepTx 146810.115 Peregrine Pharmaceuticals 147210.116 Pfizer 147910.117 Pharmacopeia 149910.118 PharmaMar 150410.119 Pharminox 151010.120 Philogen 151410.121 PhiloGene 151810.122 Pierre Fabre 152210.123 Progen 152810.124 Protein Sciences 153210.125 Protgen 153710.126 PTC Therapeutics 154210.127 Receptor BioLogix 154910.128 Regeneron 155310.129 Rexahn 156110.130 Rigel 156510.131 Sanofi 156910.132 Santaris Pharma 157610.133 Scancell 158210.134 SciClone Pharmaceuticals 158610.135 Semafore Pharmaceuticals 159010.136 Shionogi 159610.137 Simcere Pharmaceuticals 160010.138 Spear Therapeutics 160810.139 SRI International 161210.140 Stainwei Biotech 161810.141 SuperGen 162210.142 Switch Pharma 162610.143 SynDevRx 163010.144 Taiho 163410.145 Tau Therapeutics 163810.146 ThromboGenics 164210.147 Tigris Pharmaceuticals 164610.148 ToolGen 165010.149 TopoTarget 165710.150 Tracon Pharmaceuticals 166110.151 UCB 166510.152 VBL Therapeutics 167210.153 Wilex 167610.154 Xerion 168211 Disclaimer 168612 Drug Index 168713 Company Index 1697

4.1 List of Figures

Figure 1: Visualization of Target-Target Interactions among Targets of Angiogenesis Affecting Drugs in Oncology 367Figure 2: The Drug-Target Competitive Landscape of Angiogenesis Affecting Drugs in Oncology - Large Cluster 369Figure 3: The Drug-Target Competitive Landscape Angiogenesis Affecting Drugs in Oncology - Smaller Clusters 370Figure 4: Head-to-Head Targeting Competitive Landscape of Angiogenesis Affecting Drugs in Oncology 371Figure 5: Distribution of Compound Strategies among Angiogenesis Affecting Cancer Drugs 703Figure 6: Primary Sub-cellular Localization of Drug Targets 704Figure 7: Number of Companies per Ranking Level 855

4.2 List of Tables

Table 1: Cancer Highlights'™ Five Pillar Drug Assessment 7Table 2: Breakdown of the Included Angiogenesis Affecting Drug Pipeline in Oncology by Stage of Development 37Table 3: Head to Head Target Competition among Angiogenesis Affecting Drugs in Oncology 37Table 4: Overview of Drug Target Strategy Themes 42Table 5: Terminally Ceased Targets of Angiogenesis Affecting Drugs in Oncology 43Table 6: Official Gene Name to Target Profle 44Table 7: Targets of Angiogenesis Affecting Drugs in Oncology Present in the Catalogue of Somatic Mutations in Cancer and in the Cancer Gene Census 356Table 8: Identity of Drug Targets with Available Biological Structures 360Table 9: Number of Target-Target Interactions among Targets of Angiogenesis Affecting Drugs in Oncology 365Table 10: Available Protein Expression Profiles of Angiogenesis Affecting Drug Targets in Oncology 372Table 11: Pathway Summary 377Table 12: Drug Targets without any Identified Assigned Pathways 377Table 13: Pathway Profiles According to BioCarta of Angiogenesis Affecting Drug Targets in Oncology 379Table 14: Pathway Profiles According to KEGG of Angiogenesis Affecting Drug Targets in Oncology 397Table 15: Pathway Profiles According to NetPath of Angiogenesis Affecting Drug Targets in Oncology 417Table 16: Number of Drug Target Strategies by their Highest Developmental Stage and Uniqueness 424Table 17: Top Competitive Target Strategies of Angiogenesis Affecting Drugs in Oncology 425Table 18: New and Unique Target Strategies of Pre-registration and Marketed Angiogenesis Affecting Drugs in Oncology 426Table 19: The Competition Through Close Mechanistic Approximation Between Angiogenesis Affecting Drugs in Oncology in Pre-registration to Marketed 427Table 20: New and Unique Target Strategies in Phase III Clinical Development of Angiogenesis Affecting Drugs in Oncology 428Table 21: The Competition Through Close Mechanistic Approximation Between Phase III Angiogenesis Affecting Drugs in Oncology 430Table 22: New and Unique Target Strategies in Phase II Clinical Development of Angiogenesis Affecting Drugs in Oncology 431Table 23: The Competition Through Close Mechanistic Approximation Between Phase II Angiogenesis Affecting Drugs in Oncology 435Table 24: New and Unique Target Strategies in Phase I Clinical Development of Angiogenesis Affecting Drugs in Oncology 438Table 25: The Competition Through Close Mechanistic Approximation Between Phase I Angiogenesis Affecting Drugs in Oncology 442Table 26: New and Unique Target Strategies in Preclinical Development of Angiogenesis Affecting Drugs in Oncology 446Table 27: The Competition Through Close Mechanistic Approximation Between Preclinical Angiogenesis Affecting Drugs in Oncology 449Table 28: Target Strategies of No Data, Suspended and Terminated Angiogenesis Affecting Drugs in Oncology 450Table 29: Connecting Target Strategy with Its Profile Identification Number 454Table 30: The Competition Through Close Mechanistic Approximation Among Angiogenesis Affecting Drugs in Oncology 660Table 31: Overview of Compound Strategy Competition Among Angiogenesis Affecting Cancer Drugs 668Table 32: Overview of the Competitive Landscape of Small Molecule Based Angiogenesis Affecting Cancer Drugs 670Table 33: Competitive Comparison of Target Strategies of Small Molecule Angiogenesis Affecting Cancer Drugs 671Table 34: Pursued Target Strategies of Small Molecule Drugs Based Angiogenesis Affecting Cancer Drugs 675Table 35: Overview of the Competitive Landscape of Peptide Based Angiogenesis Affecting Cancer Drugs 683Table 36: Competitive Comparison of Target Strategies of Peptide Based Angiogenesis Affecting Cancer Drugs 684Table 37: Pursued Target Strategies of Peptide Based Angiogenesis Affecting Cancer Drugs 684Table 38: Overview of the Competitive Landscape of Protein Based Angiogenesis Affecting Cancer Drugs 686Table 39: Competitive Comparison of Target Strategies of Protein Based Angiogenesis Affecting Cancer Drugs 687Table 40: Pursued Target Strategies of Protein Based Angiogenesis Affecting Cancer Drugs 687Table 41: Overview of the Competitive Landscape of Antibody Based Angiogenesis Affecting Cancer Drugs 689Table 42: Competitive Comparison of Target Strategies of Antibody Based Angiogenesis Affecting Cancer Drugs 690Table 43: Pursued Target Strategies of Antibody Based Angiogenesis Affecting Cancer Drugs 691Table 44: Overview of the Competitive Landscape of Nucleic Acid Based Angiogenesis Affecting Cancer Drugs 695Table 45: Competitive Comparison of Target Strategies of Nucleic Acid Based Angiogenesis Affecting Cancer Drugs 696Table 46: Pursued Target Strategies of Nucleic Acid Based Angiogenesis Affecting Cancer Drugs 696Table 47: Vectors in Gene Therapy 697Table 48: Overview of the Competitive Landscape of Gene Therapy Based Angiogenesis Affecting Cancer Drugs 697Table 49: Competitive Comparison of Target Strategies of Gene Therapy Based Angiogenesis Affecting Cancer Drugs 698Table 50: Pursued Target Strategies of Gene Therapy Based Angiogenesis Affecting Cancer Drugs 699Table 51:Overview of the Competitive Landscape of Reformulated Angiogenesis Affecting Cancer Drugs 700Table 52: Competitive Comparison of Target Strategies of Reformulated Angiogenesis Affecting Cancer Drugs 701Table 53: Pursued Target Strategies of Reformulated Angiogenesis Affecting Cancer Drugs 702Table 54: Compound Strategies based on Sub-Cellular Localization of Angiogenesis Affecting Cancer Drug Targets 704Table 55 Competitive Summary by Cancer Indication of Angiogenesis Affecting Drugs 711Table 56: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Acute Lymphocytic Leukemia 713Table 57: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Acute Myelogenous Leukemia 714Table 58: The Competition through Close Mechanistic Approximation between Acute Myelogenous Leukemia Drugs 715Table 59: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Adrenal Cancer 717Table 60: The Competition through Close Mechanistic Approximation between Adrenal Cancer Drugs 717Table 61: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of B-cell Lymphoma 718Table 62: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Basal Cell Cancer 719Table 63: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Biliary Cancer 720Table 64: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Bladder Cancer 721Table 65: The Competition through Close Mechanistic Approximation between Bladder Cancer Drugs 722Table 66: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Bone Cancer 724Table 67: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Brain Cancer 725Table 68: The Competition through Close Mechanistic Approximation between Brain Cancer Drugs 727Table 69: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Breast Cancer 728Table 70: The Competition through Close Mechanistic Approximation between Breast Cancer Drugs 730Table 71: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Cancer (general) 734Table 72: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Carcinoid 735Table 73: The Competition through Close Mechanistic Approximation between Carcinoid Drugs 736Table 74: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Cervical Cancer 737Table 75: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Chemopreventative 738Table 76: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Chronic Lymphocytic Leukemia 739Table 77: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Chronic Myelogenous Leukemia 740Table 78: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Chronic Myelomonocytic Leukemia 741Table 79: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of CNS Cancer 741Table 80: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Colorectal Cancer 742Table 81: The Competition through Close Mechanistic Approximation between Colorectal Cancer Drugs 745Table 82: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Endometrial Cancer 748Table 83: The Competition through Close Mechanistic Approximation between Endometrial Cancer Drugs 749Table 84: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Fallopian Tube Cancer 750Table 85: The Competition through Close Mechanistic Approximation between Fallopian Tube Cancer Drugs 751Table 86: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Fibro Sarcoma 752Table 87: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Gastrointestinal Cancer (general) 753Table 88: The Competition through Close Mechanistic Approximation between Gastrointestinal Cancer (general) Drugs 755Table 89: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Gastrointestinal Stomach Cancer 756Table 90: The Competition through Close Mechanistic Approximation between Gastrointestinal Stomach Cancer Drugs 757Table 91: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Gastrointestinal Stromal Cancer 759Table 92: The Competition through Close Mechanistic Approximation between Gastrointestinal Stromal Cancer Drugs 760Table 93: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Head and Neck Cancer 761Table 94: The Competition through Close Mechanistic Approximation between Head and Neck Cancer Drugs 763Table 95: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Hematological Cancer (general) 764Table 96: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Hodgkin's Lymphoma 765Table 97: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Kaposi's Sarcoma 766Table 98: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Leiomyo Sarcoma 767Table 99: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Leukemia (general) 768Table 100: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Lipo Sarcoma 769Table 101: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Liver Cancer 770Table 102: The Competition through Close Mechanistic Approximation between Liver Cancer Drugs 772Table 103: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Lung Cancer (general) 774Table 104: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Lymphangioleiomyomatosis 776Table 105: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Lymphoma (general) 777Table 106: The Competition through Close Mechanistic Approximation between Lymphoma Drugs 778Table 107: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Mast Cell Leukemia 779Table 108: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Mastocytosis 779Table 109: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Melanoma 780Table 110: The Competition through Close Mechanistic Approximation between Melanoma Drugs 782Table 111: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Mesothelioma 784Table 112: The Competition through Close Mechanistic Approximation between Mesothelioma Drugs 786Table 113: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Myelodysplastic Syndrome 787Table 114: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Myeloma 789Table 115: The Competition through Close Mechanistic Approximation between Myeloma Drugs 790Table 116: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Nasopharyngeal Cancer 792Table 117: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Neuroendocrine Cancer (general) 793Table 118: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Neuroendocrine Cancer (pancreatic) 794Table 119: The Competition through Close Mechanistic Approximation between Neuroendocrine Cancer (pancreatic) Drugs 794Table 120: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Neurofibromatosis 796Table 121: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of non-Hodgkin's Lymphoma 797Table 122: The Competition through Close Mechanistic Approximation between non-Hodgkin's Lymphoma Drugs 798Table 123: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Non-Small Cell Lung Cancer 799Table 124: The Competition through Close Mechanistic Approximation between non-Small Cell Lung Cancer Drugs 802Table 125: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Oesophageal Cancer 805Table 126: The Competition through Close Mechanistic Approximation between Oesophageal Cancer Drugs 806Table 127: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Oral Cancer 807Table 128: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Osteo Sarcoma 808Table 129: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Ovarian Cancer 809Table 130: The Competition through Close Mechanistic Approximation between Ovarian Cancer Drugs 811Table 131: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Pancreatic Cancer 813Table 132: The Competition through Close Mechanistic Approximation between Pancreatic Cancer Drugs 815Table 133: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Peritoneal Cancer 816Table 134: The Competition through Close Mechanistic Approximation between Peritoneal Cancer Drugs 817Table 135: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Prostate Cancer 818Table 136: The Competition through Close Mechanistic Approximation between Prostate Cancer Drugs 820Table 137: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Radio/chemotherapy-induced Alopecia 822Table 138: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Radio/chemotherapy-induced Infection 822Table 139: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Renal Cancer 823Table 140: The Competition through Close Mechanistic Approximation between Renal Cancer Drugs 826Table 141: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Sarcoma (general) 828Table 142: The Competition through Close Mechanistic Approximation between Sarcoma (general) Drugs 829Table 143: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Small Cell Lung Cancer 830Table 144: The Competition through Close Mechanistic Approximation between Small Cell Lung Cancer Drugs 831Table 145: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Soft Tissue Sarcoma 833Table 146: The Competition through Close Mechanistic Approximation between Soft Tissue Sarcoma Drugs 834Table 147: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Solid Tumor 835Table 148: The Competition through Close Mechanistic Approximation between Solid Tumor Drugs 837Table 149: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Squamous Cell Cancer 839Table 150: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Synovial Sarcoma 840Table 151: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of T-cell Lymphoma 841Table 152: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Testicular Cancer 842Table 153: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Thyroid Cancer 843Table 154: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Unspecified 845Table 155: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Vaccine adjunct 848Table 156: Target Strategy Development Profiles of Angiogenesis Affecting Drugs for the Treatment of Waldenstrom's hypergammaglobulinemia 848Table 157: Competitive Summary by Investigator of Angiogenesis Affecting Drug Development 849Table 158: Summary Table of Corporate Changes in the Competitive Landscape of Angiogenesis Affecting Drug Development in Oncology 853Table 159: Example of a Competitive Fall-Out Table (Targeting KDR/Modified) 861Table 160: Abbott's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 867Table 161: Acceleron Pharma's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 876Table 162: Access'Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 880Table 163: Active Biotech's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 884Table 164: Adherex's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 889Table 165: Advantagene's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 896Table 166: Advaxis'Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 902Table 167: Advenchen's Included Angiogenesis Affecting Drug Pipeline in Oncology and Competitive Fall-Out 906Table 168: Aeterna Zentaris'Include

To order this report:Pathology Industry: Commercializing Angiogenesis Affecting Drugs in Cancer: The Faster Route to Consider Your Options and Position of Others

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Spine Injury Information Many Doctors Don't Explain

Mon, 06 Feb 2012 08:13:44 +0000

Many doctors still don't adequately explain the anatomy of the spine, the reasons for a patient's pain and the anticipated treatment plan. Here we will discuss the intricacies of spinal injuries and how a skilled personal injury attorney can help.

FISHKILL, NY, February 06, 2012 /24-7PressRelease/ -- How is a spine injury patient supposed to make an informed decision about his/her medical care if they don't understand the basics about the spine? The problem isn't as bad as it was a few decades ago, but many doctors still don't adequately explain the anatomy of the spine, the reasons for a patient's pain and the anticipated treatment plan when a patient goes to an orthopedist or neurosurgeon. All too frequently, I find myself performing the treating doctor's job by having to explain information to new clients that should have come from the doctor.

Spine Anatomy:

The spine is principally made up of vertebrae (bones), discs (cartilage between the vertebrae that act as shock absorbers and space maintainers), ligaments (that connect bone to bone and hold the discs in place between the bones), nerves (that convey directions to muscles to act and relay sensation to the brain) and muscles (that run up and down the spine like a pulley system).

There are eight Cervical vertebrae at the top of the spine, twelve Thoracic vertebrae in the middle of the spine, five Lumbar vertebrae in the lower spine and the Sacrum located at the bottom of the spine. The spinal cord travels down the spine and stops in the vicinity of the first Lumbar vertebra (Conus Medullaris). From that point, nerves continue down the spinal column. Nerve roots exit from the spine through openings called Foramina located at each level and on both sides of the spine.

Typical patient complaints include: localized spine pain; pain, numbness and tingling radiating (radiculopathy) from the neck down one or both arms or radiating from the lower back down one or both legs. Most spinal complaints result from an injury or from arthritic degenerative changes that take place over time in all human beings. Trauma can cause damage to the discs. A "slipped" or herniated disc occurs when the trauma causes disc material to rupture through the annulus fibrosus which normally holds the disc material in place. If the herniated disc puts pressure on the spinal cord or nerve roots that exit the cord, it can cause severe pain, numbness and tingling with radiation of the symptoms down the path of the nerve root that is being pressed upon or impinged by the herniated disc.

The role of the intervertebral discs is mechanical. They are the joints of the spine, enabling the spine to bend and twist in all directions. Discs support compressive loads arising from body weight and muscle tension and anchor one vertebral body to the next. The discs in the human body have no blood supply and lose water content over time. If a disc thins out or bony growths (osteophytes) develop on the vertebrae, nerve roots can also be pinched as is the case with a herniated disc.

A tear in the outside of the disc (annulus fibrosus) can cause leakage of irritating fluid that results in localized disabling pain, even if the disc doesn't herniate out of its space. The torn disc will lose its normal shape and its ability to work as a shock absorber and space maintainer can be compromised.

Diagnostic Methods and Tools:

A trained orthopedist (bone surgeon) and neurosurgeon (nerve surgeon) will be able to isolate the source of a patient's spinal complaints through a combination of physical examination, diagnostics tests and by obtaining an accurate medical history from the patient. While a physical exam will yield helpful basic information, the use of modern diagnostic studies is frequently necessary if the patient's complaints appear to be the result of more than a mild sprain or strain of soft tissue.

A CT scan (computerized axial tomogram) is an x-ray procedure that combines many x-ray images with the aid of a computer to generate cross-sectional views and, if needed, three-dimensional images of the internal organs and structures of the body. A CT scan is used to define normal and abnormal structures in the body and/or assist in procedures by helping to accurately guide the placement of instruments or treatments. CT scans are generally more useful in looking at bone as opposed to soft tissue.

An MRI (magnetic resonance imaging) is a test that uses a magnetic field and pulses of radio wave energy to make pictures of organs and structures inside the body. In many cases, MRI provides different information and may show problems that cannot be seen with other imaging methods such as an x-ray, ultrasound, or CT scan. Pictures from an MRI scan are digital images that can be saved and stored on a computer for more study. The images also can be reviewed remotely, such as in a clinic or an operating room. In some cases, contrast dye may be used during the MRI scan to show certain structures more clearly.

MRI testing will show most, but not all, herniated discs. However, sometimes the tearing of the annulus fibrosus is subtle, permitting irritating, caustic fluid to leak out of the disc and cause significant pain. An MRI may not reveal this kind of damage. Over the last 32 years, I've represented many spine injury victims with "negative" MRI's who have suffered for years with pain and restricted range of motion. In recent years, some of these victims have found help in the form of a fairly new form of testing called a provocative discogram.

When the provocative discogram is performed, a surgeon injects dye directly into several discs and a CT scan is obtained that reveals the damaged disc is leaking the injected dye (in film (a) above, you see the dye has spread out between the L4 and L5 vertebrae). The test, performed with the patient awake, also "provokes" pain where the disc is damaged. This testing is generally performed on the lower back but not on the neck because of the risk of spinal injury from the test which could cause quadriplegia.

Treatment Options:

Once the orthopedist or neurosurgeon has isolated the cause of the spine symptoms, they have a number of treatment paths that can be pursued. Except in the case where trauma requires immediate spine surgery, all surgeons tend to follow the same conservative approach to treatment of spine pain and other related symptoms. After trauma to the body, there is usually swelling or inflammation of soft tissue that can compress large or small nerves and cause pain, numbness and/or tingling. Initially, application of a cold compress or ice to the injured area helps to reducing the swelling. This can be complemented by the use of an anti-inflammatory medication.

Nonsteroidal Antiinflammatory Drugs (NSAIDs), are medications used primarily to treat inflammation, mild to moderate pain, and fever. Non-steroidal anti- inflammatory drugs (NSAIDs) are often an effective back pain treatment option. There are many non-steroidal anti-inflammatory medications. Acetaminophen, aspirin, ibuprofen, and naproxen are common ones. Acetaminophen can bring down your fever, but may not work as well for conditions caused by inflammation.

Steroid anti-inflammatories are powerful medications, which are based on hormonal substances, like cortisone. These medications have a stronger anti-inflammatory response than non-steroidal medicines. They can be taken as pills, given through your vein, or injected directly into a joint space. Injections of epidural steroid directly into the affected joint is usually performed as a series of three separate injections. If pain is being caused by swollen soft tissue that is compressing a nerve, these kind of injections can be helpful. Steroid anti-inflammatory drugs can have powerful side affects and must therefore be limited in their use.

Surgeons usually will employ a course of physical therapy when treating a spine injury. The physical therapy may include: hot and cold therapies; transcutaneous (electrical) nerve stimulation; Ultrasound; exercise; massage; and, aquatic therapy in a pool.

If less invasive treatments don't yield significant improvement in the patient's symptoms, there are other treatments that can be undertaken short of full-blown surgery. One approach used to treat severe chronic pain in the lower back is Radio Frequency Ablation (RFA), where radio frequency waves are used to produce heat on specifically identified nerves surrounding the facet joints on either side of the lumbar spine. By generating heat around the nerve, its ability to transmit pain signals to the brain is destroyed. The target nerves are identified through injections of local anesthesia prior to the RFA procedure. If the local anesthesia injections provide temporary pain relief, then RFA is performed on the nerve(s) that responded well to the injections. RFA is a minimally invasive procedure which can usually be done in day-surgery clinics, where the patient is sent home shortly after completion of the procedure. The patient is awake during the procedure, so risks associated with general anesthesia are avoided. The major drawback for this procedure is that nerves (other than the spinal cord) regenerate over time, so that pain relief lasts for only a short duration (6-24 months) in most patients.

When conservative care fails and the patient is unable to live with his/her symptoms or is at risk of permanent nerve damage if untreated, surgeons will consider performing spine surgery. In microdiscectomy or microdecompression spine surgery, a small portion of the bone over the nerve root and/or disc material from under the nerve root is removed to relieve nerve impingement and provide more room for the nerve to heal. A microdiscectomy is typically performed for a herniated lumbar disc and is actually more effective for treating leg pain (radiculopathy) than lower back pain.

A microdiscectomy is performed through a small (1 inch to 1 1/2 inch) incision in the middle of the lower back. First, the back muscles are lifted off the bony arch (lamina) of the spine. Since these back muscles run vertically, they can be moved out of the way rather than cut. The surgeon is then able to enter the spine by removing a membrane over the nerve roots (ligamentum flavum), and uses either operating glasses or an operating microscope to visualize the nerve root. Often, a small portion of the inside facet joint is removed both to facilitate access to the nerve root and to relieve pressure over the nerve. The nerve root is then gently moved to the side and the disc material is removed from under the nerve root.

Since almost all of the joints, ligaments and muscles are left intact, a microdiscectomy does not change the mechanical structure of the patient's lower spine (lumbar spine) and the recovery period is shorter than more invasive procedures. Microdiscectomy is generally performed in an otherwise healthy spine where removal of the herniated disc material is all that is required. When the spine condition is more complex and/or involves multiple levels of the spine, it is necessary for the surgeon to perform a more invasive procedure called a laminectomy.

A lumbar laminectomy is also known as an open decompression and is typically performed to alleviate pain caused by neural impingement that can result from lumbar spinal stenosis (narrowing of the spine). Spinal stenosis is a condition that primarily afflicts elderly patients and is caused by degenerative changes that result in enlargement of the facet joints. The enlarged joints then place pressure on the nerves, and this pressure may be effectively relieved with the laminectomy. The lumbar laminectomy is designed to remove a small portion of the bone over the nerve root and/or disc material from under the nerve root to give the nerve root more space and a better healing environment. Stenosis can exist from birth (congenital stenosis) in some patients.

The lumbar laminectomy (open decompression) differs from a microdiscectomy in that the incision is longer and there is more muscle stripping. First, the back is approached through a two-inch to five-inch long incision in the middle of the back, and the left and right back muscles are dissected off the lamina bone on both sides and at multiple levels. After the spine is approached, the lamina is removed (laminectomy), allowing visualization of the nerve roots. The facet joints, which are directly over the nerve roots, may then be undercut (trimmed) to give the nerve roots more room.

Post laminectomy, patients are in the hospital, on average, for one to three days and the individual patient's return to normal activity is largely dependent on his/her pre-operative physical condition and age.

The most invasive spine surgery procedure is the spinal fusion. Spinal fusion surgery is designed to stop the motion at a painful vertebral segment, which in turn should decrease pain generated from the joint. There are many approaches to lumbar spinal fusion surgery, and all involve adding bone graft to an area of the spine to create a fusion, thereby stopping the motion at that segment.

Two vertebral segments need to be fused together to stop the motion at one segment, so that an L4-L5 (lumbar vertebra # 4 and lumbar vertebra # 5) spinal fusion is actually a one-level spinal fusion. A spine fusion surgery involves using bone graft to cause two vertebral bodies to grow together into one long bone. Bone graft can be taken from the patient's hip (autograft bone) during the spine fusion surgery, harvested from cadaver bone (allograft bone) or manufactured (synthetic bone graft substitute).

In general, lumbar spinal fusion surgery is most effective for those conditions involving only one vertebral segment. Most of my clients don't report a significant limitation in motion after a one-level spine fusion. When necessary, fusing two segments of the spine may be a reasonable option for treatment of pain. However, spinal fusion of more than two segments is not considered likely to provide pain relief because it removes too much of the normal motion in the lower back and places too much stress across the remaining joints. Complete fusion of the spine takes up to one year following surgery. As is the case with laminectomy, patients are admitted to the hospital but, on average, stay for five to seven days. The patient's return to activity after spinal fusion takes much more time than after laminectomy.

The best fusion results in my clients appear to be present in patients who are not overweight and who are motivated to regain as much function as possible. However, clients who reportedly engage in excessive physical activity post-fusion such as manual labor, in my experience, tend to develop additional problems at adjacent levels of the spine that are not designed to shoulder additional stress loads.

For more information about how to receive compensation for injuries sustained in motor vehicle accidents, railroad accidents or other types of negligent circumstances, visit www.maurerlaw.net. Ira Maurer has been representing the legal rights of those suffering a catastrophic personal injury for more than 30 years in New York and throughout New England.

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Facing a Disability? Employer Benefits and Social Security May Both Help

Sun, 05 Feb 2012 08:12:23 +0000

Learn more about how your employer-provided disability insurance meshes with Social Security Disability benefits.

February 05, 2012 /24-7PressRelease/ -- Facing a Disability? Employer Benefits and Social Security May Both Help

Many employers provide a diverse array of benefits to their workers. Health, dental and disability insurance are among the most common types of employer-provided benefits. Since they frequently rely on it, most workers are familiar with health and dental coverage. But, as workers only rarely have to call on disability insurance, it may not be as well-understood as other types of employer-provided coverage.

Yet, even though most workers infrequently use their employer disability coverage, when it is needed, disability insurance can be an extremely important benefit. After becoming disabled, the two most significant sources of income for an incapacitated worker are often employer disability coverage and Social Security Disability Insurance ("SSDI"). Having a basic understanding of the interplay between these two types of disability benefits, along with seeking timely advice from Texas Social Security Disability lawyers, can prove hugely beneficial for anyone put out of work by a serious health condition.

Differences Between Employer Disability Benefits and SSDI

Although they share many similarities, there are several major distinctions between employer disability coverage and SSDI.

There are many different types of employer-provided disability coverage -- policies may be for long-term disabilities, short-term disabilities, or both. Some employers completely cover the premium costs of disability coverage for their workers, while others offer such policies at discounted group rates to employees.

SSDI, on the other hand, is a government-sponsored program managed by the U.S. Social Security Administration. Everyone who has contributed enough to SSDI through Social Security taxes (denoted as FICA deductions on most paystubs) is automatically covered. Unlike some employer disability policies, SSDI only covers impairments that prevent you from performing substantial work for a year or more; partial or short-term disabilities are not covered by SSDI.

Complementary Coverages

Employer disability coverage and SSDI are not mutually exclusive; on the contrary, they are often specifically tailored to function interdependently.

SSDI benefits include compensation for your normal pay, Medicare health insurance (after a given period of disability), and, if practicable, vocational rehabilitation or other types of support services that can ultimately help you get back to work. Your employer-provided disability package may overlap or exceed SSDI in terms of health insurance and other benefits, depending on the provisions of your individual plan. In terms of income replacement, however, most employer-provided disability insurance plans are designed to work in tandem with SSDI.

While some employer-provided disability plans provide higher amounts, replacement of 60 percent of your pre-disability income is typical of most policies. Your employer disability coverage makes up the difference between the monetary benefits supplied by SSDI and your policy's income replacement level.

As an example, imagine that your monthly income at the time you became disabled was $4,000. Your employer disability coverage stipulates 60 percent income replacement, which for you would be $2,400 per month. After submitting a successful SSDI claim, it is determined that you qualify for $1,400 a month in Social Security income replacement. Your disability insurer would then provide you with the additional $1,000 per month to bring your total disability payment to $2,400, 60 percent of your pre-disability income.

Challenges Faced By Disability Applicants

Unfortunately, getting the most out of your disability benefits is not always as simple as filling in the gaps between SSDI and your employer-provided insurance coverage percentage. Sometimes, when the Social Security Administration or private benefit providers improperly deny claims or drag their feet, experienced Social Security Disability attorneys can help you get the benefits you are entitled to.

A 2010 report from the Social Security Administration revealed that approximately three-quarters of SSDI applicants are initially denied benefits. Yet, after appealing, half of those who are originally turned down eventually receive the benefits they need.

An industry study conducted in 2010 showed that group disability insurers are more generous in approving claims than the Social Security Administration: just over 75 percent of long-term disability claims submitted to group disability carriers were approved. Even so, for individuals wrongly denied benefits or offered payments below the threshold provided for in their plan, this is of little consolation.

Advice for Disability Applicants

If you are suffering from a disabling condition, there are several measures you can take to protect your rights to benefits and improve your chances should you need to appeal a denial. Keep original documents outlining your medical condition in a safe place; only submit copies when providing documentation to SSDI or insurance authorities. Carefully review the policy terms of your employer disability coverage.

SSDI and employer disability coverage are meant to help you in your time of need. A disability can be a challenge in many ways -- help ensure that a lack of financial resources is not one of them by contacting an experienced SSDI attorney today.

Article provided by The Law Offices of Coats & Todd

Visit us at www.getdisability.org

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The Importance of Applying for SSDI Benefits After a Serious Diagnosis

Sat, 04 Feb 2012 08:13:40 +0000

It can take several months before SSDI benefits are approved. Because SSDI benefits provide crucial support, it is important to file for them as soon as possible.

February 04, 2012 /24-7PressRelease/ -- The Importance of Applying for SSDI Benefits After a Serious Diagnosis

Life often unfolds in unexpected ways. Individuals receiving a serious diagnosis, such as lung cancer, are not always sure what the next right step should be, what their lives will look like in six months, or what they will need to get through it.

Although everyone is different, the reality for many who battle serious diseases like lung cancer is that the fight can take a physical and emotional toll that renders them unable to work. Social Security Disability attorneys in New York City are an excellent resource to help these individuals apply for Social Security Disability Insurance (SSDI) benefits so they have financial support when they need it.

Lung Cancer Statistics

According to the Centers for Disease Control and Prevention over 200,000 people were diagnosed with lung cancer in 2007. That same year the disease claimed nearly 160,000 lives. The agency estimated 222,000 people would be diagnosed with the lung cancer in 2010.

Lung cancer is difficult to detect. In fact, there may be no symptoms until the disease has progressed to an advanced form. As a result, it often is not discovered until it has metastasized to other parts of the body, making it the most common cause of cancer death in the United States. When it is discovered, it almost always requires aggressive treatment, which keeps most individuals from working.

Social Security Disability Benefits and the Application Process

Fortunately, SSDI benefits can be expedited for people whose illnesses meet the list of conditions for compassionate allowances, like lung cancer. These benefits can help pay the mortgage, put food on the table and purchase other necessities.

Unfortunately, SSDI payments are not normally immediately available even to eligible applicants; For example, applicants must be disabled for at least five full months in addition to meeting other eligibility requirements before payments commence. Therefore, people who receive a specific serious diagnosis, like lung cancer, should apply immediately for SSDI benefits to avoid delays in receiving benefits.

The SSDI application can be complicated and lengthy. The Social Security Administration(SSA) considers a number of eligibility requirements, such as the applicant's legal status, eligibility based on their earnings record, as well as the extent of one's disability even after treatment is concluded in order to determine whether an individual qualifies for benefits.

There are three basic steps to obtaining social security benefits.

-Preparing the forms necessary and providing medical evidence for the SSA at the initial stage

-Reviewing the application before a judge if denied at the initial stage

-Further appeals (if necessary)

Navigating through the complex forms required by the SSA and gathering the appropriate medical evidence can be confusing and stressful during a time when energies are needed to focus on recovery. Utilizing a social security disability attorney can make the process easier.

Compassionate Allowances

For most people, it may take several months before they are approved for SSDI benefits. Fortunately, the SSA has special fast-track procedures for applicants with the most severe illnesses. Known as compassionate allowances, these diseases and conditions are pre-determined to be disabling events. This allows the SSDI to expedite the processing of a claim, approving benefits quickly and with less medical information.

The list of compassionate allowances includes many illnesses in addition to many cancers, including both non-small cell lung cancer and small cell lung cancers.

If you or a loved one is suffering from a disabling illness, SSDI benefits may provide critical financial support while you are out of work. It is important to apply for these benefits as soon as possible. An experienced Social Security Disability attorney can guide you through the process, making sure you have what you need to get these important benefits.

Article provided by The Klein Law Group, P.C.

Visit us at www.thekleinlawgroup.com

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Team Led By Scripps Research Scientists Demonstrates Effective New 'Biopsy in a Blood Test' to Detect Cancer

Fri, 03 Feb 2012 11:00:00 +0000

Team Led By Scripps Research Scientists Demonstrates Effective New 'Biopsy in a Blood Test' to Detect Cancer

PR Newswire

Series of Five Studies Highlights Potential of Technology to Boost Patient Care, Research

LA JOLLA, Calif., Feb. 3, 2012 /PRNewswire-USNewswire/ -- Scientists from The Scripps Research Institute, Scripps Health, and collaborating cancer physicians have successfully demonstrated the effectiveness of an advanced blood test for detecting and analyzing circulating tumor cells (CTCs)—breakaway cells from patients' solid tumors—from cancer patients. The findings, reported in five new papers, show that the highly sensitive blood analysis provides information that may soon be comparable to that from some types of surgical biopsies.

(Photo: http://photos.prnewswire.com/prnh/20120203/DC47104)

"It's a next-generation technology," said Scripps Research Associate Professor Peter Kuhn, Ph.D., senior investigator of the new studies and primary inventor of the high-definition blood test. "It significantly boosts our ability to monitor, predict, and understand cancer progression, including metastasis, which is the major cause of death for cancer patients."

The studies were published February 3, 2012, in the journal Physical Biology.

The new test, called HD-CTC, labels cells in a patient's blood sample in a way that distinguishes possible CTCs from ordinary red and white blood cells. It then uses a digital microscope and an image-processing algorithm to isolate the suspect cells with sizes and shapes ("morphologies") unlike those of healthy cells. Just as in a surgical biopsy, a pathologist can examine the images of the suspected CTCs to eliminate false positives and note their morphologies.

Kuhn emphasizes that this basic setup can be easily modified with different cell-labeling and image-processing techniques.

Five New Studies, Five Steps Forward

To test the new technology, members of the Kuhn lab at Scripps Research teamed up with pathologists and oncologists at Scripps Health in La Jolla, California; UC San Diego Moores Cancer Center at the University of California, San Diego; the Billings Clinic in Billings, Montana; the Division of Medical Oncology at the University of California, San Francisco; the Center for Applied Molecular Medicine at the University of Southern California, in Los Angeles; and the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital in Amsterdam, the Netherlands.

The five new studies that resulted from the collaboration not only demonstrate the accuracy and effectiveness of the new test for a number of different cancer types, but also begin to explore the utility of the technology for diagnosing and monitoring patients and improving cancer research in the lab. While other tests for CTCs typically use "enrichment" steps in which suspected CTCs are concentrated—and these methods inadvertently exclude some types of CTCs—the new studies show HD-CTC works well as a no-cell-left-behind process and enables a more complete analysis.

Also striking is the quality of the images. "The high definition method gives a detailed portrait of these elusive cells that are caught in the act of spreading around the body," said diagnostic pathologist Kelly Bethel, M.D., of Scripps Health, Scripps Research, and UC San Diego School of Medicine, who is the senior clinical investigator on Kuhn's team. "It's unprecedented—we've never been able to see them routinely and in high definition like this before."

In the first study, the research team examined 83 advanced cancer patients using HD-CTC to document the test's sensitivity and accuracy for different cancer types. The scientists found that the test detected five or more CTCs per milliliter of blood in 80 percent of patients with metastatic prostate cancer, 70 percent of those with metastatic breast cancer, 50 percent of those with metastatic pancreatic cancer, and no healthy subjects. The current gold-standard CTC test, known as CellSearch, was notably less sensitive in detecting tumor cells in these samples.

Most patients whose CTC counts surpassed the detection threshold also showed small aggregates of CTCs, which cancer biologists term "microtumor emboli." These are widely suspected to be incipient metastatic tumors, as well as triggers for the blood clots that often kill advanced cancer patients. In the second study, the scientists showed that HD-CTC could detect these aggregates in 43 percent of 71 patients with advanced prostate, lung, pancreas, and breast cancers, and in none of a group of 15 healthy subjects. "This tells us that HD-CTC could be helpful in studying the origins of cancer metastases and related blood clots, and for predicting them, too," Kuhn said.

In the third study, the team used HD-CTC to compare circulating tumor cells from prostate cancer patients with cells from prostate cancer cell lines that researchers often use as convenient models for prostate cancer biology in the lab. The team found significant differences between the two classes of cells, in their cell morphology and in the way they were labeled by HD-CTC's fluorescent tags. "This underscores the need for studying cancer cells from patients, not just model cancer cells that in some ways may be utterly different from the real thing," Kuhn said.

In the fourth study, the researchers performed HD-CTC tests on 28 patients with advanced non-small-cell lung cancer over periods of up to a year. The team was able to detect CTCs in 68 percent of samples, and found that the numbers of detected CTCs tended to go up as other measures showed cancer progression.

In the fifth and final paper of the series, the team used HD-CTC in 78 patients who had just been diagnosed with various stages of non-small-cell lung cancer. "We demonstrated that we could sensitively detect CTCs even in patients with early-stage cancer," Kuhn said.

This result points to the possibility of using the HD-CTC blood test not only to evaluate already-diagnosed cancer, but also to help detect cancer in people who are unaware they have it. "If HD-CTC works on the day after cancer diagnosis, as we've shown, then one can easily imagine that it would work the day before diagnosis, too," Kuhn said.

Kuhn and his colleagues now intend to study the use of HD-CTC as a potential screening test and to develop it further for use in clinical monitoring and cancer research. Kuhn has founded a San Diego-based biotechnology company, Epic Sciences, Inc., to develop HD-CTC commercially for companion diagnostic products in personalized cancer care.

Dena Marrinucci, Ph.D., of Scripps Research was first author of the study, "Fluid biopsy in patients with metastatic prostate, pancreatic and breast cancer"; Edward H. Cho, Ph.D., of Scripps Research was first author of "Characterization of circulating tumor cell aggregates identified in patients with epithelial tumors"; Daniel C. Lazar of Scripps Research was first author of "Cytometric comparisons between circulating tumor cells from prostate cancer patients and the prostate-tumor-derived LNCaP cell Line"; Jorge Nieva, M.D., of Scripps Research was first author of "High-definition imaging of circulating tumor cells and associated cellular events in non-small cell lung cancer patients: a longitudinal analysis; and Marco Wendel, Ph.D., of Scripps Research and Lyudmila Bazhenova, M.D., of UC San Diego Moores Cancer Center were first authors of "Fluid biopsy for circulating tumor cell identification in patients with early and late stage non-small cell lung cancer; a glimpse into lung cancer biology."

Kuhn's laboratory is supported by the National Cancer Institute (NCI) of the US National Institutes of Health as the NCI Scripps Physics Oncology Center, which was initially supported through the American Recovery and Reinvestment Act. For more information see http://4db.us and http://physics.cancer.gov.

About The Scripps Research Institute
The Scripps Research Institute is one of the world's largest independent, non-profit biomedical research organizations. Scripps Research is internationally recognized for its discoveries in immunology, molecular and cellular biology, chemistry, neuroscience, and vaccine development, as well as for its insights into autoimmune, cardiovascular, and infectious disease. Headquartered in La Jolla, California, the institute also includes a campus in Jupiter, Florida, where scientists focus on drug discovery and technology development in addition to basic biomedical science. Scripps Research currently employs about 3,000 scientists, staff, postdoctoral fellows, and graduate students on its two campuses. The institute's graduate program, which awards Ph.D. degrees in biology and chemistry, is ranked among the top ten such programs in the nation. For more information, see www.scripps.edu

SOURCE The Scripps Research Institute

Phase 1 Study of OGX-427 Presented at the ASCO 2012 Genitourinary Cancers Symposium Shows Early Evidence of Activity in Bladder Cancer

Thu, 02 Feb 2012 13:00:00 +0000

Phase 1 Study of OGX-427 Presented at the ASCO 2012 Genitourinary Cancers Symposium Shows Early Evidence of Activity in Bladder Cancer

Data Support Ongoing Phase 2 Study in Metastatic Bladder Cancer

PR Newswire

BOTHELL, Wash. and VANCOUVER, British Columbia, Feb. 2, 2012 /PRNewswire/ -- OncoGenex Pharmaceuticals, Inc. (NASDAQ: OGXI) announced today preliminary results from an investigator-sponsored Phase 1 study of patients with superficial bladder cancer with its investigational compound OGX-427, which is designed to inhibit the production of Hsp27. Hsp27 is a cell-survival protein expressed in many types of cancers including prostate, bladder, breast and non-small cell lung cancer. Overexpression of Hsp27 is thought to be an important factor leading to the development of treatment resistance and is associated with negative clinical outcomes in patients with various tumor types.

The Phase 1 data are being presented in conjunction with the American Society of Clinical Oncology (ASCO) 2012 Genitourinary Cancers Symposium held this weekend in San Francisco. Results of a Phase 2 study of OGX-427 in patients with castrate-resistant prostate cancer will also be presented at this meeting.

In patients with superficial bladder cancer, preliminary results of this Phase 1 study demonstrated a trend towards decreased levels of Hsp27 and increased tumor cell death rates after intravesical treatment with OGX-427. Additionally, of the 15 patients treated with OGX-427, 33% had complete responses with no pathologic evidence of disease observed in post-surgical tissue following 4 doses of OGX-427 administered intravesically over an 8 day period. The absence of residual disease post OGX-427 intravesical treatment prevented evaluation of Hsp27 levels and tumor cell death rates within tumor cells in these patients.

"The primary objective of this study was to evaluate pharmacokinetic (PK) and pharmacodynamic (PD) effects of OGX-427 intravesical administration. Interestingly, the complete response rate observed to date is higher than expected," said Dr. Alan So, the study's principal investigator and a urologic oncologist at the Vancouver Prostate Centre at The University of British Columbia. "We will continue enrolling additional patients with larger tumors and continue to evaluate the effect of higher OGX-427 doses on Hsp27 levels."

No significant drug-related adverse events were reported and no dose limiting toxicity has been observed. One patient developed gross hematuria (grade I) within 24 hours of administration of OGX-427 that spontaneously resolved. Authors concluded OGX-427 was well tolerated with minimal toxicity.

OncoGenex is hosting an investigator panel today (February 2, 2012) to discuss these preliminary study results as well as development plans including an on-going, randomized, Phase 2 study evaluating OGX-427 in combination with gemcitabine and cisplatin in patients with metastatic bladder cancer.

The event will be held live at 6:35pm PT in San Francisco and will also be available via live webcast. To access the event, log on to the Investor Relations page of the OncoGenex website at www.oncogenex.com. A replay will be available for approximately 90 days following the event.

About OncoGenex Pharmaceuticals

OncoGenex is a biopharmaceutical company committed to the development and commercialization of new cancer therapies that address treatment resistance in cancer patients. OncoGenex has a diverse oncology pipeline, with each product candidate having a distinct mechanism of action and representing a unique opportunity for cancer drug development. OncoGenex and Teva Pharmaceutical Industries Ltd. (NASDAQ: TEVA) have entered a global collaboration and license agreement to develop and commercialize OncoGenex' lead drug candidate, custirsen. Custirsen is currently in Phase 3 clinical development as a treatment in men with metastatic castrate-resistant prostate cancer. The companies plan to begin Phase 3 development of custirsen in first-line treatment of advanced, unresectable non-small cell lung cancer. OGX-427 is in Phase 2 clinical development; CSP-9222 and OGX-225 are currently in pre-clinical development. More information is available at www.OncoGenex.com.

OncoGenex' Forward Looking Statements

This press release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to, statements concerning our anticipated product development activities, such as expected clinical trial initiation and statements regarding the potential benefits and potential development of our product candidates. All statements other than statements of historical fact are statements that could be deemed forward-looking statements. These statements are based on management's current expectations and beliefs and are subject to a number of risks, uncertainties and assumptions that could cause actual results to differ materially from those described in the forward-looking statements. Such forward-looking statements are subject to risks and uncertainties, including, among others, the risk that final trial results will not demonstrate the same or any potential benefit as observed in preliminary trial results, the risk that subsequent studies may not confirm earlier trial results, the risk of delays in our expected clinical trials, the risk that new developments in the rapidly evolving cancer therapy landscape require changes in our clinical trial plans or limit the potential benefits of our product and the other factors described in our risk factors set forth in our filings with the Securities and Exchange Commission from time to time, including the Company's Quarterly Report on Form 10-Q for third quarter ended September 30, 2011. The Company undertakes no obligation to update the forward-looking statements contained herein or to reflect events or circumstances occurring after the date hereof, other than as may be required by applicable law.

SOURCE OncoGenex Pharmaceuticals, Inc.

Clinical Data on OGX-427 Presented at the ASCO 2012 Genitourinary Cancers Symposium Provide Ongoing Evidence of Hsp27 as a Potential Therapeutic Target in Advanced Prostate Cancer

Thu, 02 Feb 2012 13:00:00 +0000

Clinical Data on OGX-427 Presented at the ASCO 2012 Genitourinary Cancers Symposium Provide Ongoing Evidence of Hsp27 as a Potential Therapeutic Target in Advanced Prostate Cancer

OncoGenex Announces Plans to Initiate a Phase 2 Study of OGX-427 in Combination with Zytiga® (abiraterone) in Castrate-Resistant Prostate Cancer

PR Newswire

BOTHELL, Wash. and VANCOUVER, British Columbia, Feb. 2, 2012 /PRNewswire/ -- OncoGenex Pharmaceuticals, Inc. (NASDAQ: OGXI) announced today preliminary results from a Phase 2 prostate cancer study with its investigational compound OGX-427, which is designed to inhibit the production of Hsp27. Hsp27 is a cell-survival protein expressed in many types of cancers including prostate, bladder, breast and non-small cell lung cancer. Overexpression of Hsp27 is thought to be an important factor leading to the development of treatment resistance and is associated with negative clinical outcomes in patients with various tumor types.

In chemotherapy-naive patients with metastatic castrate-resistant prostate cancer (mCRPC), preliminary study results showed a higher number of patients without disease progression at 12 weeks, and greater declines in prostate-specific antigen (PSA) and circulating tumor cells (CTC) with OGX-427 plus prednisone treatment compared to prednisone alone. These data are being presented in conjunction with the American Society of Clinical Oncology (ASCO) 2012 Genitourinary Cancers Symposium held this weekend in San Francisco. Results of a Phase 1 study of OGX-427 in patients with superficial bladder cancer will also be presented at this meeting.

In the first 32 patients randomized to the mCRPC Phase 2 study, 17 patients received OGX-427 plus prednisone and 15 patients received prednisone alone. Available preliminary data are as follows:

In the OGX-427 plus prednisone arm, 71% of patients were progression-free at 12 weeks, compared to 33% in the prednisone alone arm. The primary efficacy endpoint of this study is defined as the proportion of patients without disease progression at 12 weeks where disease progression is based on any of the following parameters: PSA levels, measurable disease, bone lesions, global deterioration or requiring palliative radiation therapy.
Among patients who received OGX-427 plus prednisone, 76% experienced an overall decline in PSA compared to 53% in the prednisone alone arm.
- Forty-one percent of patients who received OGX-427 plus prednisone experienced a >50% decline in PSA, versus 20% of patients who received prednisone alone.
CTC declines from ≥5 to <5 occurred in 50% of patients receiving OGX-427 plus prednisone compared to 31% of those treated with prednisone alone.
Among the 17 patients with baseline measurable disease, 38% of patients who received OGX-427 plus prednisone (n=8) had a partial response compared to 0% in the prednisone alone arm (n=9).
Adverse events reported in both arms were primarily grade 1 or 2 with grade 3 or higher adverse events reported in 31% of patients in the OGX-427 plus prednisone arm and 25% in the prednisone alone arm.
OGX-427 infusion reactions occurred and were primarily grade 1 or 2 chills, nausea, vomiting, flushing or diarrhea. Other adverse events in 2 or more patients thought to be related to OGX-427 were fatigue, dizziness, decreased appetite, and pyrexia.

"The PSA declines, progression free survival at 12 weeks, and response rates observed thus far are supportive of OGX-427's ability to suppress androgen receptor activity and tumor cell survival through inhibition of Hsp27," said Dr. Kim Chi, a medical oncologist at BC Cancer Agency, British Columbia, Canada, and the primary investigator on the study. "This warrants further study, particularly in combination with other agents targeting the androgen pathway, such as abiraterone acetate."

OncoGenex is hosting an investigator panel today (February 2, 2012) to discuss these preliminary study results as well as on-going and future development plans including an investigator-initiated, randomized, controlled Phase 2 study evaluating OGX-427 in combination with abiraterone for the treatment of mCRPC, supported in part by grant funding.

About OncoGenex Pharmaceuticals

OncoGenex' Forward Looking Statements

Zytiga is a registered trademark of the Johnson & Johnson Corporation

SOURCE OncoGenex Pharmaceuticals, Inc.

Wrong and Misdiagnosis Medical Malpractice

Thu, 02 Feb 2012 08:13:44 +0000

When your health is suffering, you rely on the expertise of healthcare professionals to provide a diagnosis and proper treatment. As any reasonable person would, you expect the diagnosis to be correct. Unfortunately, misdiagnosis sometimes occurs.

GOLDEN, CO, February 02, 2012 /24-7PressRelease/ -- When your health is suffering, you rely on the expertise of healthcare professionals to provide a diagnosis and proper treatment. As any reasonable person would, you expect the diagnosis to be correct. Unfortunately, misdiagnosis sometimes occurs.

What is a Misdiagnosis?

A misdiagnosis occurs when a physician diagnoses you with the wrong condition. The danger of a misdiagnosis is that you could receive the wrong treatment indefinitely, allowing your actual condition to progress and worsen.

For cancer, particularly, misdiagnosis can be severely detrimental. Cancer tends to be much more treatable in its early stages. If your cancer goes undetected because of misdiagnosis, it may metastasize, requiring more invasive treatment when it is correctly diagnosed.

Proving Negligence in a Misdiagnosis Claim

A doctor is not necessarily negligent if a misdiagnosis occurs. Competent, experienced doctors are capable of making mistakes even though they are acting reasonably and in a way that any reasonable doctor would replicate. For this reason, medical malpractice claims stemming from misdiagnosis can be difficult to prove. In your claim, you and your attorney must prove:

- The doctor owed you a duty of care. You and the doctor had entered a professional relationship in which the doctor was responsible for your care.

- The doctor was negligent. The doctor did not provide medical care meeting accepted standards of the medical community.

- The doctor's negligence caused your injury. An essential component of a medical malpractice claim is an actual injury. Without injury, medical malpractice did not occur.

Negligence can be thought of as carelessness that a reasonable doctor would not exercise in similar circumstances. It may be that your doctor was negligent at some point during the diagnosis process. For example, your doctor may have neglected to consider an obvious diagnosis that another doctor would have surely considered. Or, your doctor may not have ordered proper testing for your diagnosis.

In other cases, the diagnosing doctor is not the individual at fault. During the diagnosis process, errors during laboratory testing can lead to a wrong diagnosis. For example, a lab technician may have performed the testing procedure incorrectly, or the equipment used may have been defective.

If you think negligence may have contributed to your misdiagnosis, you should consult an experienced attorney. If negligence did play a role, you may be entitled to compensation for your injury-related expenses. Oftentimes, people who have been diagnosed with the wrong medical condition face expenses much higher than would have been the case if diagnosed properly.

To learn more about medical malpractice, please visit the website of the experienced medical malpractice attorneys in Pennsylvania at Atlee, Hall & Brookhart LLP, serving clients in Philadelphia and Lancaster.

Website: http://www.atleehall.com

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The RARE List™ - You Must See it to Believe it!

Wed, 01 Feb 2012 11:00:00 +0000

The RARE List™ - You Must See it to Believe it!

PR Newswire

7,000 Different Rare Diseases and Disorders Comprise 65 Page RARE List™, 95% of the Medical Conditions Included on RARE List™ Have No FDA Approved Treatments

DANA POINT, Calif., Feb. 1, 2012 /PRNewswire-USNewswire/ -- The R.A.R.E. Project (http://RAREproject.org), a leading patient advocacy organization representing the rare disease community, today issued the RARE List™, a stunning 65 page alphabetical listing of roughly 7,000 known rare diseases and disorders. The rare diseases and disorders that comprise the RARE List™ impact 30 million Americans (or 10% of the U.S. population) and an estimated 350 million people worldwide. The RARE List™ was released by the R.A.R.E. Project as part of month long public awareness campaign leading up to World Rare Disease Day on February 29, 2012.

In 1983, the U.S. Orphan Drug Act legislation was passed in an attempt to encourage pharmaceutical companies to develop drugs for rare diseases that have a small market. However, during its first 25 years in existence, only 326 drugs were approved by the U.S. Food and Drug Administration (FDA) for all 7,000 rare disease and disorders on the RARE List™. Today, a shocking 95 percent of the medical conditions on the RARE List™ do not have a single FDA approved drug treatment or therapy.

"Our goal of releasing the RARE List™ is to help people understand we have a major therapy development crisis facing our community – all you need to do is scroll through the RARE List™ to understand the magnitude of this problem," said Nicole Boice, president, R.A.R.E. Project. "Tens of billions of dollars are being poured into our nation's research system each year and the money and effort is not translating into treatments. We need to kick start the productivity within a system that is supposedly designed to find cures for tens of millions of patients but is only producing a few new drugs each year."

Over 700 leading organizations and thousands of advocates and supporters have signed on to participate in the efforts developed by the R.A.R.E. Project and the recently launched 1 Million for RARE™ awareness campaign. The 1 Million for RARE™ campaign is part of the Global Genes Project™ and was developed by leading advocates representing various rare diseases, in an effort to make it easy for people and organizations to actively get involved to support the rare disease community and agenda.

"If you or a loved one suffers from one of the 7,000 rare diseases or disorders found on the RARE List™ and you have not joined our team, we need you now," added Boice. "A dramatic increase in the development of new therapies will happen only when we create a unified voice similar to what advocates have done in well known diseases such as breast cancer, heart disease and HIV-AIDS. Although many in the rare disease community are fighting very different diseases, small patient populations can't affect the legislative and funding changes the rare disease community needs. We must combine forces to be heard and recognized on a national and international level."

To join the 1 Million for RARE™ team on Facebook, visit: http://on.fb.me/1million4rare

For more information on the R.A.R.E. Project, visit: http://RAREproject.org/

For more information on the Global Genes Project, visit: http://GlobalGenesProject.org/

Contact: Amy Grover, R.A.R.E Project. 949-248-RARE (7273), amyg@rareproject.org

Note: The RARE List™ was complied from a number of public sources and is subject to frequent updates. Please note that providers and payors may be using different lists. An updated version of the RARE List™ will be maintained at: http://rareproject.org/rarelist/. To have your condition added to the RARE List™, please contact the R.A.R.E. Project.

The RARE List™

Rare Diseases and Disorders - Starting With "A"

Aagenaes syndrome, Aarskog syndrome, Aase Smith syndrome, ABCD syndrome, Abderhalden Kaufmann Lignac syndrome, Abdominal aortic aneurysm, Abdominal chemodectomas with cutaneous angiolipomas, Abdominal cystic lymphangioma, Abdominal obesity metabolic syndrome, Aberrant subclavian artery, Abetalipoproteinemia, Abidi X-linked mental retardation syndrome, Ablepharon macrostomia syndrome, Abrikosov's tumor, Abruzzo Erickson syndrome, Absence of fingerprints congenital milia, Absence of gluteal muscle, Absence of septum pellucidum, Absence of Tibia, Absence of tibia with polydactyly, Absent breasts and nipples, Absent corpus callosum cataract immunodeficiency, Absent patella, Absent T lymphocytes, Abuse dwarfism syndrome, Acalvaria, Acanthamoeba infection, Acanthocheilonemiasis, Acanthocytosis, Acanthoma, Acanthosis nigricans, Acanthosis nigricans muscle cramps acral enlargement, Acardia, Acatalasemia, Accessory deep peroneal nerve, Accessory pancreas, ACDC, Aceruloplasminemia, Acetyl CoA acetyltransferase 2 deficiency, Acetyl-carnitine deficiency, Achalasia, Achalasia microcephaly syndrome, Achalasia familial esophageal, Achard syndrome, Achard Thiers syndrome, Acheiropody, Achondrogenesis, Achondrogenesis Kozlowski type, Achondrogenesis type 1A, Achondrogenesis type 1B, Achondrogenesis type 2, Achondrogenesis type 3, Achondrogenesis type 4, Achondroplasia, Achondroplasia and severe combined immunodeficiency, Achondroplasia and Swiss type agammaglobulinemia, Achromatopsia 2, Achromatopsia 3, Achromatopsia incomplete X-linked, Acinic cell carcinoma, Acitretin embryopathy, Ackerman syndrome, Acoustic neuroma, Acquired agranulocytosis, Acquired angioedema, Acquired fructose intolerance, Acquired hemophilia, Acquired hypoprothrombinemia, Acquired Von Willebrand syndrome, Acral dysostosis dyserythropoiesis syndrome, Acral lentiginous melanoma, Acro coxo mesomelic dysplasia, Acro-pectoro-renal field defect, Acrocallosal syndrome Schinzel type, Acrocapitofemoral dysplasia, Acrocephalopolydactylous dysplasia, Acrocephalopolydactyly, Acrocephaly pulmonary stenosis mental retardation, Acrodermatitis, Acrodermatitis enteropathica, Acrodysostosis, Acrodysplasia scoliosis, Acrodysplasia with ossification abnormalities short stature and fibular hypoplasia, Acrofacial dysostosis ambiguous genitalia, Acrofacial dysostosis atypical postaxial, Acrofacial dysostosis Catania type, Acrofacial dysostosis Palagonia type, Acrofacial dysostosis Preis type, Acrofacial dysostosis Rodriguez type, Acrofrontofacionasal dysostosis syndrome, Acrogeria Gottron type, Acrokeratoelastoidosis of Costa, Acromegaloid changes cutis verticis gyrata and corneal leukoma, Acromegaloid facial appearance syndrome, Acromegaloid features overgrowth cleft palate and hernia, Acromegaloid hypertrichosis syndrome, Acromegaly, Acromelanosis, Acromelic frontonasal dysostosis, Acromesomelic dysplasia, Acromesomelic dysplasia Campailla Martinelli type, Acromesomelic dysplasia Hunter Thompson type, Acromesomelic dysplasia Maroteaux type, Acromicric dysplasia, Acroosteolysis dominant type, Acroosteolysis with osteoporosis and changes in skull and mandible, Acropectoral syndrome, Acropectorovertebral dysplasia F form, Acrorenal mandibular syndrome, Acrorenal syndrome recessive, Acrospiroma, ACTH deficiency, ACTH resistance, ACTH-independent macronodular adrenal hyperplasia, Actinic cheilitis, Actinomycosis, Acute articular rheumatism, Acute biphenotypic leukemia, Acute cholinergic dysautonomia, Acute disseminated encephalomyelitis, Acute erythroblastic leukemia, Acute erythroleukemia, Acute fatty liver of pregnancy, Acute hemorrhagic leukoencephalitis, Acute idiopathic polyneuritis, Acute intermittent porphyria, Acute lymphoblastic leukemia, Acute lymphoblastic leukemia congenital sporadic aniridia, Acute lymphoblastic leukemia childhood, Acute megakaryoblastic leukemia, Acute monoblastic leukemia, Acute mountain sickness, Acute myeloblastic leukemia type 1, Acute myeloblastic leukemia type 2, Acute myeloblastic leukemia type 3, Acute myeloblastic leukemia type 4, Acute myeloblastic leukemia type 5, Acute myeloblastic leukemia type 6, Acute myeloblastic leukemia type 7, Acute myeloblastic leukemia with maturation, Acute myeloblastic leukemia without maturation, Acute myelocytic leukemia, Acute myeloid leukemia adult, Acute myeloid leukemia childhood, Acute myelomonocytic leukemia, Acute necrotizing ulcerative gingivitis, Acute non lymphoblastic leukemia, Acute promyelocytic leukemia, Acute respiratory distress syndrome, Acute zonal occult outer retinopathy, Acyl-CoA oxidase deficiency, Adactylia unilateral, Adams Oliver syndrome, Addison's disease, Adducted thumb and clubfoot syndrome, Adducted thumb syndrome recessive form, Adducted thumbs Dundar type, Adenine phosphoribosyltransferase deficiency, Adenoameloblastoma, Adenocarcinoid tumor, Adenocarcinoma of lung, Adenocarcinoma of the appendix, Adenoid cystic carcinoma, Adenoma of the adrenal gland, Adenomyosis, Adenosarcoma of the uterus, Adenosine deaminase deficiency, Adenosine monophosphate deaminase 1 deficiency, Adenylosuccinase deficiency, Adie syndrome, Adiposis dolorosa, Adnexal spiradenoma/cylindroma of a sweat gland, Adrenal adenoma familial, Adrenal cancer, Adrenal medulla cancer, Adrenocortical carcinoma, Adrenoleukodystrophy X-linked, Adrenomyeloneuropathy, Adrenomyodystrophy, Adult onset angioedema, Adult progressive spinal muscular atrophy Aran Duchenne type, ADULT syndrome, Adult-onset citrullinemia type II, Advanced sleep phase syndrome familial, Aerobic actinomyces infection, Afibrinogenemia, Agammaglobulinemia X-linked type 2, Agammaglobulinemia microcephaly and severe dermatitis, Agammaglobulinemia non-Bruton type, Aganglionosis total intestinal, AGAT deficiency, Agenesis of the dorsal pancreas, Aggressive NK cell leukemia, Aglossia and Situs Inversus, Agnathia-microstomia-synotia, Agnosia, Agyria pachygyria polymicrogyria, Agyria-pachygyria type 1, Ahumada Del Castillo syndrome, Aicardi syndrome, Aicardi-Goutieres syndrome, Aicardi-Goutieres syndrome 5, AIDS Dementia Complex, AIDS dysmorphic syndrome, Ainhum, Akaba Hayasaka syndrome, Akesson syndrome, Aksu von Stockhausen syndrome, AL amyloidosis, Al Gazali Aziz Salem syndrome, Al Gazali Donnai Mueller syndrome, Al Gazali Hirschsprung syndrome, Al Gazali Khidr Prem Chandran syndrome, Al Gazali Sabrinathan Nair syndrome, Al Gazali syndrome, Alagille syndrome, Aland island eye disease, Alaninuria with microcephaly dwarfism enamel hypoplasia and diabetes mellitus, Albinism, Albinism deafness syndrome, Albinism immunodeficiency, Albinism ocular late onset sensorineural deafness, Albinism minimal pigment type, Albright like syndrome, Albright's hereditary osteodystrophy, Aldred syndrome, Alexander disease, ALK+ histiocytosis, Alkaptonuria, Allain-Babin-Demarquez syndrome, Allan-Herndon-Dudley syndrome, Allergic angiitis, Allergic autoimmune thyroiditis, Allergic bronchopulmonary aspergillosis, Allergic encephalomyelitis, Aloi Tomasini Isaia syndrome, Alopecia congenita keratosis palmoplantaris, Alopecia contractures dwarfism mental retardation, Alopecia epilepsy oligophrenia syndrome of Moynahan, Alopecia immunodeficiency, Alopecia macular degeneration growth retardation, Alopecia mental retardation syndrome 1, Alopecia mental retardation syndrome 2, Alopecia universalis onychodystrophy vitiligo, Alopecia epilepsy pyorrhea mental subnormality, Alpers syndrome, Alpha 1-antitrypsin deficiency, Alpha mannosidosis type 2, Alpha-2 deficient collagen disease, Alpha-ketoglutarate dehydrogenase deficiency, Alpha-mannosidosis type 1, Alpha-Thalassemia, Alpha-thalassemia-abnormal morphogenesis, Alport syndrome, Alport syndrome dominant type, Alport syndrome recessive type, ALS-like syndrome of encephalomyopathy, Alsing syndrome, Alstrom syndrome, Alternating hemiplegia of childhood, Aluminium lung, Alveolar capillary dysplasia, Alveolar echinococcosis, Alveolar soft part sarcoma, Alveolitis extrinsic allergic, Alves Castelo dos Santos syndrome, Alzheimer disease familial, Alzheimer disease type 1, Alzheimer disease type 2, Alzheimer disease type 3, Alzheimer disease type 4, Alzheimer's disease without neurofibrillary tangles, Amaurosis congenita cone-rod type with congenital hypertrichosis, Amaurosis fugax, Ambras syndrome, Amebiasis, Amelia cleft lip palate hydrocephalus iris coloboma, Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type, Amelogenesis imperfecta hypoplastic type IG, Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1, Amelogenesis imperfecta local hypoplastic, Amelogenesis imperfecta nephrocalcinosis, Amelogenesis imperfecta pigmented hypomaturation type, Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 2, Ameloonychohypohidrotic syndrome, Amino aciduria with mental deficiency dwarfism muscular dystrophy osteoporosis and acidosis, Aminoaciduria, Aminoacylase 1 deficiency, Aminolevulinate dehydratase deficiency porphyria, Amish lethal microcephaly, Amniotic band syndrome, Ampola syndrome, Amyloid neuropathy, Amyloidosis AA, Amyloidosis Beta2M, Amyloidosis bronchopulmonary, Amyloidosis cerebral, Amyloidosis corneal, Amyloidosis familial visceral, Amyloidosis Finnish type, Amyloidosis nodular localized cutaneous, Amyloidosis of gingiva and conjunctiva with mental retardation, Amyloidosis primary cutaneous, Amyopathic dermatomyositis, Amyoplasia mandibulofacial dysostosis, Amyotonia congenita, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 2, Amyotrophic lateral sclerosis type 3, Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 5, Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 7, Amyotrophic lateral sclerosis type 8, Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, Amyotrophy neurogenic scapuloperoneal New England type, Anal cancer, Anal sphincter dysplasia, Anaplastic astrocytoma, Anaplastic ependymoma, Anaplastic ganglioglioma, Anaplastic large cell lymphoma, Anaplastic oligoastrocytoma, Anaplastic oligodendroglioma, Anaplastic small cell lymphoma, Anauxetic dysplasia, Ancylostomiasis, Andermann syndrome, Andersen Tawil syndrome, Androgen insensitivity syndrome, Androgen insensitivity syndrome complete, Androgen insensitivity syndrome mild, Androgen insensitivity syndrome partial, Anemia due to Adenosine triphosphatase deficiency, Anemia sideroblastic and spinocerebellar ataxia, Anencephaly, Anencephaly and spina bifida X-linked, Aneurysm of sinus of Valsalva, Aneurysm intracranial berry 2, Aneurysmal bone cysts, Angel shaped phalangoepiphyseal dysplasia, Angelman syndrome, Angiofollicular ganglionic hyperplasia, Angiofollicular lymph hyperplasia, Angioimmunoblastic lymphadenopathy with dysproteinemia, Angiokeratoma mental retardation coarse face, Angioma hereditary neurocutaneous, Angioma serpiginosum autosomal dominant, Angioma serpiginosum X-linked, Angiomatosis diffuse corticomeningeal of Divry and Van Bogaert, Angiomatosis leptomeningeal capillary venous, Angiomatous lymphoid hamartoma, Angiomyomatous Hamartoma, Angiosarcoma of the breast, Angiosarcoma of the liver, Angiosarcoma of the scalp, Angiostrongyliasis, Aniridia, Aniridia absent patella, Aniridia ataxia renal agenesis psychomotor retardation, Aniridia mental retardation syndrome, Aniridia ptosis mental retardation obesity familial, Aniridia renal agenesis psychomotor retardation, Aniridia cerebellar ataxia and mental deficiency, Anisakiasis, Ankle defects short stature, Ankyloblepharon filiforme adnatum cleft palate, Ankyloblepharon filiforme imperforate anus, Ankylosis of teeth, Annular constricting bands, Annular pancreas, Anodontia, Anomalous origin of right pulmonary artery familial, Anonychia congenita, Anonychia ectrodactyly, Anonychia onychodystrophy, Anonychia total with microcephaly, Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly, Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges, Anophthalmia cleft lip palate hypothalamic disorder, Anophthalmia cleft palate micrognathia, Anophthalmia esophageal atresia cryptorchidism, Anophthalmia megalocornea cardiopathy skeletal anomalies, Anophthalmia microcephaly hypogonadism, Anophthalmia or microphthalmia retinal dystrophy and/or myopia associated with brain anomalies, Anophthalmia plus syndrome, Anophthalmos with limb anomalies, Anorchia, Anorectal atresia, Anotia facial palsy cardiac defect, Anterior pituitary insufficiency familial, Anterior polar cataract 2, Anterior segment mesenchymal dysgenesis, Anterior spinal artery stroke, Anthrax, Anti-HLA hyperimmunization, Anti-plasmin deficiency congenital, Antigen-peptide-transporter 2 deficiency, Antihypertensive drugs antenatal infection, Antiphospholipid syndrome, Antisocial personality disorder, Antisynthetase syndrome, Antley Bixler syndrome, Anton's syndrome, Aorta-pulmonary artery fistula, Aortic aneurysm familial thoracic 4, Aortic arch anomaly with peculiar facies and mental retardation, Aortic arch interruption, Aortic arches defect, Aortic coarctation, Aortic dissection lentiginosis, Aortic supravalvular stenosis, Aortic valve stenosis, Aortic valves stenosis of the child, Aortopulmonary window, Apert like polydactyly syndrome, Apert syndrome, Aphalangia partial with syndactyly and duplication of metatarsal IV, Aphthous stomatitis, Aplasia cutis autosomal recessive, Aplasia cutis congenita, Aplasia cutis congenita dominant, Aplasia cutis congenita intestinal lymphangiectasia, Aplasia cutis congenita of limbs recessive, Aplasia cutis congenita recessive, Aplasia cutis myopia, Aplastic anemia, Apo A-I deficiency, Apolipoprotein C 2I deficiency, Apparent mineralocorticoid excess, Apraxia, APUDoma, Aquagenic pruritus, Arachindonic acid absence of, Arachnodactyly mental retardation dysmorphism, Arachnoid cysts, Arachnoiditis, Arakawa's syndrome 2, Arbovirosis, AREDYLD, Arena syndrome, Arginase deficiency, Argininosuccinic aciduria, Arhinia choanal atresia microphthalmia, Arnold Stickler Bourne syndrome, Aromatase deficiency, Aromatic amino acid decarboxylase deficiency, Arrhinia, Arrhythmogenic right ventricular dysplasia, Arroyo Garcia Cimadevilla syndrome, Arterial calcification of infancy, Arterial tortuosity syndrome, Arthritis short stature deafness, Arthrogryposis and ectodermal dysplasia, Arthrogryposis distal type 2B, Arthrogryposis due to muscular dystrophy, Arthrogryposis epileptic seizures migrational brain disorder, Arthrogryposis IUGR thoracic dystrophy, Arthrogryposis like disorder, Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita CNS calcification, Arthrogryposis multiplex congenita distal, Arthrogryposis multiplex congenita distal type 1, Arthrogryposis multiplex congenita neurogenic type, Arthrogryposis multiplex congenita pulmonary hypoplasia, Arthrogryposis multiplex congenita whistling face, Arthrogryposis multiplex congenita distal type 2, Arthrogryposis multiplex congenita distal X-linked, Arthrogryposis multiplex with deafness inguinal hernias and early death, Arthrogryposis ophthalmoplegia retinopathy, Arthrogryposis renal dysfunction cholestasis syndrome, Arthrogryposis spinal muscular atrophy, Arthrogryposis distal type 2E, Arthrogryposis distal with hypopituitarism mental retardation and facial anomalies, Arthrogryposis-like hand anomaly and sensorineural deafness, Arts syndrome, Asbestosis, Ascher's Syndrome, Asherman's syndrome, Aspartylglycosaminuria, Aspergillosis, Aspergillus niger infection, Asphyxia neonatorum, Asrar Facharzt Haque syndrome, Asternia, Asternia with Cardiac Diaphragmatic and Abdominal defects, Astley-Kendall syndrome, Astroblastoma, Ataxia telangiectasia, Ataxia telangiectasia variant V1, Ataxia with vitamin E deficiency, Atelosteogenesis type 1, Atelosteogenesis type 2, Atelosteogenesis type 3, Athabaskan brainstem dysgenesis, Athetosis, Atkin syndrome, Atlanto-Axial Fusion, ATR-X syndrome, Atransferrinemia, Atresia of small intestine, Atrial fibrillation familial, Atrial myxoma familial, Atrial septal defect coronary sinus, Atrial septal defect ostium primum, Atrial septal defect ostium secundum, Atrial septal defect sinus venosus, Atrioventricular septal defect, Atrophoderma of Pierini and Pasini, Atrophodermia vermiculata, Attenuated FAP, Atypical lipodystrophy, Atypical mycobacteriosis familial, Atypical Rett syndrome, Auditory neuropathy, Auditory perceptual disorder, Auralcephalosyndactyly, Auriculo-condylar syndrome, Auriculoosteodysplasia, Ausems Wittebol-Post Hennekam syndrome, Autism with port-wine stain, Autoimmune enteropathy, Autoimmune hemolytic anemia, Autoimmune hepatitis, Autoimmune Inner Ear disease, Autoimmune lymphoproliferative syndrome, Autoimmune myocarditis, Autoimmune oophoritis, Autoimmune peripheral neuropathy, Autoimmune polyglandular syndrome type 1, Autoimmune polyglandular syndrome type 2, Autoimmune progesterone dermatitis, Autosomal dominant compelling helio ophthalmic outburst syndrome, Autosomal dominant hyper IgE syndrome, Autosomal dominant partial epilepsy with auditory features, Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations, Autosomal recessive hyper IgE syndrome, Autosomal recessive nonsyndromic congenital nuclear cataract, Autosomal recessive polycystic kidney disease, Axenfeld-Rieger syndrome, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 2, Axenfeld-Rieger syndrome type 3, Axial mesodermal dysplasia spectrum, Axial osteomalacia, Axial osteosclerosis, Ayazi syndrome

Rare Diseases and Disorders - Starting With "B"

B cell prolymphocytic leukemia, B-cell lymphomas, Babesiosis, Baby rattle pelvic dysplasia, Bacterial meningitis, Baetz-Greenwalt syndrome, Bagatelle Cassidy syndrome, Baker Vinters syndrome, Balantidiasis, Balkan endemic nephropathy, Baller-Gerold syndrome, Balo disease, Balo's concentric sclerosis, Bamforth syndrome, BANF acoustic neurinoma, Banki syndrome, Bannayan-Riley-Ruvalcaba syndrome, Banti's syndrome, Bantu siderosis, Baraitser Brett Piesowicz syndrome, Baraitser Rodeck Garner syndrome, Barakat syndrome, Barber Say syndrome, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 9, Bare lymphocyte syndrome, Bare lymphocyte syndrome 2, Baritosis, Barnicoat Baraitser syndrome, Baroreflex failure, Barraquer-Simons syndrome, Barre Lieou syndrome, Barth syndrome, Bartter syndrome antenatal type 1, Bartter syndrome antenatal type 2, Bartter syndrome type 3, Bartter syndrome type 4, Bartter's syndrome, Basal cell carcinoma infundibulocystic, Basal cell carcinoma multiple, Basal cell nevus anodontia abnormal bone mineralization, Basal ganglia disease biotin-responsive, Basaloid follicular hamartoma, Basan syndrome, Basaran Yilmaz syndrome, Basedow's coma, Basilar impression primary, Basilar migraine, Bassoe syndrome, Battaglia Neri syndrome, Bazex-Dupre-Christol syndrome, Bazopoulou Kyrkanidou syndrome, Bd syndrome, Beardwell syndrome, Becker muscular dystrophy, Becker nevus syndrome, Becker's nevus, Beckwith-Wiedemann syndrome, Bednar's tumor, Beemer Ertbruggen syndrome, Behcet's disease, Behr syndrome, Behrens Baumann Dust syndrome, Bejel, Bell's palsy, Bellini Chiumello Rimoldi syndrome, Ben Ari Shuper Mimouni syndrome, Benallegue Lacete syndrome, Benign angiitis of the central nervous system, Benign autosomal dominant myopathy, Benign eccrine spiradenoma, Benign essential tremor syndrome, Benign familial infantile epilepsy, Benign familial neonatal-infantile seizures, Benign hyperphenylalaninemia, Benign metastasizing leiomyoma, Benign multicystic peritoneal mesothelioma, Benign paroxysmal positional vertigo, Benign recurrent intrahepatic cholestasis 1, Benign recurrent intrahepatic cholestasis 2, Benign rolandic epilepsy (BRE), Berger disease, Beriberi, Berk-Tabatznik syndrome, Berry aneurysm cirrhosis pulmonary emphysema and cerebral calcification, Berylliosis, Best vitelliform macular dystrophy, Best1 retinopathy, Beta ketothiolase deficiency, Beta-galactosidase-1 deficiency, Beta-sarcoglycanopathy, Beta-thalassemia, Bethlem myopathy, Beukes familial hip dysplasia, Bhaskar Jagannathan syndrome, Bidirectional tachycardia, Biemond syndrome, Biemond syndrome 2, Biemond syndrome type 1, Biermer disease, Bietti crystalline corneoretinal dystrophy, Bifid nose, Bifid nose with or without anorectal and renal anomalies, Bilateral frontal polymicrogyria, Bilateral frontoparietal polymicrogyria, Bilateral generalized polymicrogyria, Bilateral parasagittal parieto-occipital polymicrogyria, Bilateral perisylvian polymicrogyria, Bilateral renal agenesis dominant type, Bile acid synthesis defect congenital 1, Bile acid synthesis defect congenital 2, Bile acid synthesis defect congenital 4, Bile duct cancer, Bile duct cysts, Biliary atresia extrahepatic, Biliary atresia intrahepatic non syndromic form, Biliary atresia intrahepatic syndromic form, Biliary hypoplasia, Biliary tract cancer, Bilirubin induced brain injury in the newborn, Billet Bear syndrome, Binswanger's disease, Biotinidase deficiency, Bird headed dwarfism Montreal type, Bird-headed dwarfism with progressive ataxia insulin-resistant diabetes goiter and primary gonadal insufficiency, Birdshot chorioretinopathy, Birk Barel mental retardation dysmorphism syndrome, Birt-Hogg-Dube syndrome, Bixler Christian Gorlin syndrome, Bjornstad syndrome, BK-virus nephropathy, Bladder cancer childhood, Blaichman syndrome, Blastic plasmacytoid dendritic cell, Blastoma, Blastomycosis, Blau syndrome, Blepharo naso facial syndrome Van maldergem type, Blepharofacioskeletal syndrome, Blepharophimosis, Blepharophimosis syndrome Ohdo type, Blepharophimosis with ptosis syndactyly and short stature, Blepharophimosis ptosis and epicanthus inversus syndrome type 1, Blepharophimosis ptosis and epicanthus inversus syndrome type 2, Blepharoptosis myopia ectopia lentis, Blepharospasm, Bloom syndrome, Blount disease, Blue cone monochromatism, Blue diaper syndrome, Blue rubber bleb nevus, Bobble-head doll syndrome, BOD syndrome, Boerhaave syndrome, Bone cancer, Bone dysplasia Azouz type, Bone dysplasia corpus callosum agenesis, Bone dysplasia lethal Holmgren type, Bone dysplasia Moore type, Bone fragility craniosynostosis proptosis hydrocephalus, Book syndrome, Boomerang dysplasia, BOR-Duane hydrocephalus contiguous gene syndrome, Borjeson-Forssman-Lehmann syndrome, Bork Stender Schmidt syndrome, Borrone Di Rocco Crovato syndrome, Bothriocephalosis, Botulism, Boucher Neuhauser syndrome, Boudhina Yedes Khiari syndrome, Bourneville syndrome, Bowen syndrome, Bowen's disease, Bowen-Conradi syndrome, Bowenoid papulosis, Bowing congenital short bones, Bowing of legs anterior with dwarfism, Bowing of long bones congenital, Boylan Dew Greco syndrome, Brachial amelia forebrain defects and facial clefts, Brachioskeletogenital syndrome, Brachycephalofrontonasal dysplasia, Brachydactylous dwarfism Mseleni type, Brachydactyly absence of distal phalanges, Brachydactyly anonychia, Brachydactyly dwarfism mental retardation, Brachydactyly elbow wrist dysplasia, Brachydactyly long thumb type, Brachydactyly mesomelia mental retardation heart defects, Brachydactyly Mononen type, Brachydactyly preaxial with hallux varus and thumb abduction, Brachydactyly scoliosis carpal fusion, Brachydactyly small stature face anomalies, Brachydactyly tibial hypoplasia, Brachydactyly type A1, Brachydactyly type A2, Brachydactyly type A3, Brachydactyly type A4, Brachydactyly type A5, Brachydactyly type A6, Brachydactyly type A7, Brachydactyly type B, Brachydactyly type C, Brachydactyly type E, Brachydactyly types B and E combined, Brachydactyly with hypertension, Brachymesomelia renal syndrome, Brachymesophalangy type 2, Brachymetapody anodontia hypotrichosis albinoidism, Brachyolmia type 1 Hobaek type, Brachyolmia type 3, Brachyphalangy polydactyly and tibial aplasia/hypoplasia, Braddock Jones Superneau syndrome, Brain stem cancer, Brain stem glioma childhood, Brain tumor adult, Brain tumor childhood, Branchial arch defects, Branchial arch syndrome X-linked, Branchiooculofacial syndrome, Branchiootic syndrome, Branchiootorenal syndrome, Breast cancer childhood, Breast cancer male, Brenner tumor of ovary, Brenner tumor of the vagina, Brittle bone syndrome lethal type, Brittle cornea syndrome, Broad-betalipoproteinemia, Brody myopathy, Bronchial adenomas/carcinoids childhood, Bronchiectasis oligospermia, Bronchiolitis obliterans, Bronchiolitis obliterans organizing pneumonia, Bronchogenic cyst, Bronchopulmonary dysplasia, Brooks Wisniewski Brown syndrome, Brown syndrome, Brown-Sequard syndrome, Brown-Vialetto-Van laere syndrome, Brucellosis, Bruck syndrome 1, Bruck syndrome 2, Brugada syndrome, Brugada syndrome 3, Brugada syndrome 4, Brunoni syndrome, Brunsting-Perry syndrome, Bruyn Scheltens syndrome, Bubonic plague, Budd-Chiari syndrome, Buerger disease, Bulbo-spinal atrophy X-linked, Bulbospinal amyotrophy X-linked, Bullous dystrophy hereditary macular type, Bullous erythroderma ichthyosiformis congenita of Brocq, Bullous pemphigoid, Burkitt's lymphoma, Burn Goodship syndrome, Burn-Mckeown syndrome, Burnett Schwartz Berberian syndrome, Burning mouth syndrome type 3, Buruli ulcer, Buschke Lowenstein tumor, Buschke Ollendorff syndrome, Bustos Simosa Pinto Cisternas syndrome, Butyrylcholinesterase deficiency, Byssinosis, C syndrome

Rare Diseases and Disorders - Starting With "C"

C-like syndrome, CADASIL, Cafe au lait spots multiple, Caffey disease, CAHMR syndrome, Calabro syndrome, Calcifying Epithelial Odontogenic Tumor, Calciphylaxis, California encephalitis, Calloso-genital dysplasia, Calvarial hyperostosis, Camera Marugo Cohen syndrome, Campomelia Cumming type, Campomelic dysplasia, Camptobrachydactyly, Camptocormism, Camptodactyly arthropathy coxa vara pericarditis syndrome, Camptodactyly joint contractures and facial skeletal dysplasia, Camptodactyly syndrome Guadalajara type 1, Camptodactyly syndrome Guadalajara type 2, Camptodactyly syndrome Guadalajara type 3, Camptodactyly taurinuria, Camptodactyly vertebral fusion, Camptodactyly fibrous tissue hyperplasia and skeletal dysplasia, Camptodactyly tall stature and hearing loss syndrome, Camptodactyly-ichthyosis syndrome, Camptomelic syndrome long limb type, Camurati Engelmann disease type 2, Camurati-Engelmann disease, Canavan disease, Candida glabrata, Candidiasis familial chronic mucocutaneous autosomal recessive, CANOMAD syndrome, Cantalamessa Baldini Ambrosi syndrome, Cantu Sanchez-Corona Fragoso syndrome, Cantu Sanchez-Corona Garcia-Cruz syndrome, Cantu Sanchez-Corona Hernandez syndrome, Capillary hemangioblastoma, Carbamoyl phosphate synthetase 1 deficiency, Carbon baby syndrome, Carcinoid syndrome, Carcinoid tumor, Carcinoid tumor childhood, Carcinoma of the vocal tract, Carcinoma of unknown primary site childhood, Cardiac diverticulum, Cardiac hydatid cysts with intracavitary expansion, Cardiac rupture, Cardiac valvular dysplasia X-linked, Cardioauditory syndrome of Sanchez Cascos, Cardiocranial syndrome, Cardioencephalomyopathy, Cardiofacial syndrome short limbs, Cardiofaciocutaneous syndrome, Cardiogenital syndrome, Cardiomelic syndrome Stratton Koehler type, Cardiomyopathy and deafness due to tRNA lysine gene mutation, Cardiomyopathy cataract hip spine disease, Cardiomyopathy diabetes deafness, Cardiomyopathy dilated with conduction defect type 1, Cardiomyopathy dilated with conduction defect type 2, Cardiomyopathy dilated with woolly hair and keratoderma, Cardiomyopathy due to anthracyclines, Cardiomyopathy hypogonadism collagenoma syndrome, Cardiomyopathy hypogonadism metabolic anomalies, Cardiomyopathy spherocytosis, Cardiomyopathy fatal fetal due to myocardial calcification, Cardioskeletal syndrome Kuwaiti type, Cardiospasm, Carnevale Hernandez Castillo syndrome, Carnevale syndrome, Carney complex, Carnitine palmitoyl transferase 1 deficiency, Carnitine palmitoyl transferase 2 deficiency, Carnitine palmitoyltransferase I deficiency muscle, Carnitine transporter deficiency, Carnitine-acylcarnitine translocase deficiency, Carnosinemia, Caroli disease, Carotid body tumor, Carpal deformity migrognathia microstomia, Carpenter syndrome, Carpo tarsal osteolysis recessive, Carpotarsal osteochondromatosis, Carrington syndrome, Cartilage-hair hypoplasia, Cartilaginous cancer, Cartwright Nelson Fryns syndrome, Caspase-8 deficiency, Cassavism, Castleman's disease, Castro Gago Pombo Novo syndrome, Cat Eye syndrome, Cat scratch disease, Catamenial pneumothorax, Cataract and cardiomyopathy, Cataract and congenital ichthyosis, Cataract anterior polar dominant, Cataract ataxia deafness, Cataract congenital autosomal dominant, Cataract congenital dominant non nuclear, Cataract congenital Volkmann type, Cataract Hutterite type, Cataract hypertrichosis mental retardation, Cataract mental retardation hypogonadism, Cataract microcornea syndrome, Cataract microphthalmia septal defect, Cataract skeletal anomalies, Cataract alopecia sclerodactyly, Cataract autosomal recessive congenital 2, Cataract congenital with microcornea or slight microphthalmia, Cataract congenital with microphthalmia, Cataract microphthalmia and nystagmus, Cataract posterior polar 1, Cataract posterior polar 3, Cataract posterior polar 4, Cataract posterior polar 5, Cataract total congenital, Cataract zonular, Cataract-glaucoma, Cataract-microcephaly failure to thrive kyphoscoliosis, Cataracts ataxia short stature and mental retardation, Catastrophic antiphospholipid syndrome, Catatrichy, Catel Manzke syndrome, Caudal appendage deafness, Caudal duplication, Caudal regression syndrome, Cavernous lymphangioma, Cayler cardiofacial syndrome, Ccge syndrome, CD3 deficiency, CD4 deficiency, CDG syndrome type 3, CDG syndrome type 4, CDK4 linked melanoma, Cennamo Gangemi syndrome, Central centrifugal cicatricial alopecia, Central core disease, Central nervous system lymphoma primary, Central neurocytoma, Central post-stroke pain, Central serous chorioretinopathy, Cercarial Dermatitis, Cerebellar agenesis, Cerebellar astrocytoma childhood, Cerebellar ataxia and hypogonadotropic hypogonadism, Cerebellar ataxia ectodermal dysplasia, Cerebellar ataxia infantile with progressive external ophthalmoplegia, Cerebellar ataxia areflexia pes cavus optic atrophy and sensorinural hearing loss, Cerebellar degeneration, Cerebellar degeneration subacute, Cerebellar hypoplasia, Cerebellar hypoplasia tapetoretinal degeneration, Cerebellar hypoplasia with endosteal sclerosis, Cerebellar liponeurocytoma, Cerebello-olivary atrophy, Cerebelloparenchymal disorder 3, Cerebellum agenesis hydrocephaly, Cerebral astrocytoma childhood, Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral calcification cerebellar hypoplasia, Cerebral calcifications opalescent teeth phosphaturia, Cerebral cavernous malformation, Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome, Cerebral folate deficiency, Cerebral gigantism jaw cysts, Cerebral palsy ataxic, Cerebral palsy athetoid, Cerebral palsy mixed, Cerebral palsy spastic diplegic, Cerebral palsy spastic hemiplegic, Cerebral palsy spastic monoplegic, Cerebral palsy spastic quadriplegic, Cerebral sarcoma, Cerebral sclerosis similar to Pelizaeus-Merzbacher disease, Cerebral ventricle cancer, Cerebro facio thoracic dysplasia, Cerebro-costo-mandibular syndrome, Cerebro-oculo-facio-skeletal syndrome, Cerebrocostomandibular-like syndrome, Cerebrospinal fluid leak, Cerebrotendinous xanthomatosis, Ceroid lipofuscinosis neuronal 1, Ceroid lipofuscinosis neuronal 10, Ceroid lipofuscinosis neuronal 2, Ceroid lipofuscinosis neuronal 3, Ceroid lipofuscinosis neuronal 4A autosomal recessive, Ceroid lipofuscinosis neuronal 4B autosomal dominant, Ceroid lipofuscinosis neuronal 5, Ceroid lipofuscinosis neuronal 6, Ceroid lipofuscinosis neuronal 7, Ceroid lipofuscinosis neuronal 8, Ceroid lipofuscinosis neuronal 9, Ceroid storage disease, Cerulean cataract, Cervical dystonia, Cervical hypertrichosis peripheral neuropathy, Cervical intraepithelial neoplasia, Cervical ribs Sprengel anomaly anal atresia and urethral obstruction, Chagas disease, Chanarin-Dorfman syndrome, Chancroid, Chandler's syndrome, CHANDS, Chang Davidson Carlson syndrome, Chaotic atrial tachycardia, Char syndrome, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease deafness recessive type, Charcot-Marie-Tooth disease dominant intermediate 1, Charcot-Marie-Tooth disease dominant intermediate 2, Charcot-Marie-Tooth disease dominant intermediate 3, Charcot-Marie-Tooth disease neuronal type A, Charcot-Marie-Tooth disease neuronal type B, Charcot-Marie-Tooth disease neuronal type D, Charcot-Marie-Tooth disease type 1A, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2A, Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2C, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2F, Charcot-Marie-Tooth disease type 2G, Charcot-Marie-Tooth disease type 2H, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease with ptosis and parkinsonism, Charcot-Marie-Tooth disease with pyramidal features autosomal dominant, Charcot-Marie-Tooth disease X-linked 1, Charcot-Marie-Tooth disease X-linked recessive 2, Charcot-Marie-Tooth disease X-linked recessive 3, Charcot-Marie-Tooth type 1 aplasia cutis congenita, CHARGE syndrome, Charles Bonnet syndrome, Charlie M syndrome, Chediak-Higashi syndrome, Cheilitis glandularis, Chemke Oliver Mallek syndrome, Cherubism, Chester porphyria, Chiari malformation type 2, Chiari malformation type 3, Chiari malformation type 4, Chiari-Frommel syndrome, Chikungunya, Chilaiditi syndrome, CHILD syndrome, Childhood disintegrative disorder, Childhood-onset cerebral X-linked adrenoleukodystrophy, Childhood-Onset Schizophrenia, Children's interstitial lung disease, Chitayat Meunier Hodgkinson syndrome, Chitty Hall Baraitser syndrome, Chitty Hall Webb syndrome, Cholecystitis, Cholemia familial, Cholera, Cholestasis intrahepatic of pregnancy, Cholestasis progressive familial intrahepatic 1, Cholestasis progressive familial intrahepatic 2, Cholestasis progressive familial intrahepatic 3, Cholestasis progressive familial intrahepatic 4, Cholestatic jaundice renal tubular insufficiency, Cholesteatoma, Cholesterol pneumonia, Chondroblastoma, Chondrocalcinosis 1, Chondrocalcinosis 2, Chondrocalcinosis due to apatite crystal deposition, Chondrodysplasia, Chondrodysplasia acromesomelic with genital anomalies, Chondrodysplasia Blomstrand type, Chondrodysplasia calcificans metaphysealis, Chondrodysplasia lethal recessive, Chondrodysplasia punctata 1 X-linked recessive, Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata Sheffield type, Chondrodysplasia punctata syndrome, Chondrodysplasia punctata with steroid sulfatase deficiency, Chondrodysplasia punctata humero-metacarpal type, Chondrodysplasia situs inversus imperforate anus polydactyly, Chondrodysplasia Grebe type, Chondrodystrophy, Chondroma, Chondrosarcoma, Chordoid glioma of the third ventricle, Chordoma, Chorea familial benign, Chorea minor, Chorea remitting with nystagmus and cataracts, Choreoacanthocytosis, Choreoacanthocytosis amyotrophic, Choriocarcinoma, Chorioretinal atrophy progressive bifocal, Chorioretinitis, Chorioretinopathy dominant form microcephaly, Choroid plexus calcification with mental retardation, Choroid plexus carcinoma, Choroid plexus cyst, Choroid plexus papilloma, Choroidal dystrophy central areolar, Choroideremia, Choroideremia hypopituitarism, Choroiditis, Christian Demyer Franken syndrome, Christian Johnson Angenieta syndrome, Christianson syndrome, Chromhidrosis, Chromomycosis, Chromophil renal cell carcinoma, Chromophobe renal cell carcinoma, Chromosomal triplication, Chromosome 1 monosomy 1p, Chromosome 1 monosomy 1q4, Chromosome 1 ring, Chromosome 1 uniparental disomy 1q12 q21, Chromosome 10 monosomy 10p, Chromosome 10 monosomy 10q, Chromosome 10 ring, Chromosome 10 trisomy 10p, Chromosome 10 uniparental disomy, Chromosome 10q partial trisomy, Chromosome 11 deletion 11p, Chromosome 11q partial deletion, Chromosome 11q trisomy, Chromosome 12 ring, Chromosome 12 12p trisomy, Chromosome 12 trisomy 12q, Chromosome 12p deletion, Chromosome 13 ring, Chromosome 13p duplication, Chromosome 13q deletion, Chromosome 13q trisomy, Chromosome 13q-mosaicism, Chromosome 14 ring, Chromosome 14 mosaic trisomy, Chromosome 14q partial deletions, Chromosome 14q proximal duplication, Chromosome 14q terminal deletion, Chromosome 15 ring, Chromosome 15 trisomy mosaicism, Chromosome 15q partial deletion, Chromosome 15q tetrasomy, Chromosome 15q trisomy, Chromosome 16 trisomy, Chromosome 16 trisomy 16p, Chromosome 16 uniparental disomy, Chromosome 16p13.3 deletion syndrome, Chromosome 16p13.3 duplication, Chromosome 16q trisomy, Chromosome 17 ring, Chromosome 17 deletion, Chromosome 17 trisomy 17p, Chromosome 17 trisomy 17q22, Chromosome 18 mosaic monosomy, Chromosome 18 ring, Chromosome 18 tetrasomy 18p, Chromosome 18 trisomy 18p, Chromosome 18 trisomy 18q, Chromosome 18p deletion syndrome, Chromosome 18q deletion syndrome, Chromosome 19 ring, Chromosome 19 trisomy 19q, Chromosome 19q13.11 deletion syndrome, Chromosome 1p36 deletion syndrome, Chromosome 1q deletion, Chromosome 1q21.1 duplication syndrome, Chromosome 2 duplication(2)(p13)(p21), Chromosome 2 monosomy 2q, Chromosome 2 monosomy 2q24, Chromosome 2 trisomy 2p, Chromosome 2 trisomy 2q, Chromosome 20 ring, Chromosome 20 deletion 20p, Chromosome 20 duplication 20p, Chromosome 20 trisomy, Chromosome 21 monosomy, Chromosome 21 ring, Chromosome 21 tetrasomy 21q, Chromosome 21 uniparental disomy, Chromosome 22 mosaic monosomy, Chromosome 22 ring, Chromosome 22 trisomy mosaic, Chromosome 22 trisomy, Chromosome 22q deletion, Chromosome 3 duplication syndrome, Chromosome 3 monosomy 3p, Chromosome 3 trisomy 3p, Chromosome 3 trisomy 3q, Chromosome 3q29 microduplication syndrome, Chromosome 4 ring syndrome, Chromosome 4 short arm deletion, Chromosome 4 monosomy 4q, Chromosome 4 Trisomy 4p, Chromosome 4 trisomy 4q, Chromosome 5 trisomy 5p, Chromosome 5 trisomy 5q, Chromosome 5 uniparental disomy, Chromosome 6 ring syndrome, Chromosome 6 monosomy 6q, Chromosome 6 monosomy 6q2, Chromosome 6 trisomy 6p, Chromosome 6 trisomy 6q, Chromosome 7 ring syndrome, Chromosome 7 monosomy, Chromosome 7 partial monosomy 7p, Chromosome 7 trisomy 7p, Chromosome 7 trisomy 7q, Chromosome 7 trisomy mosaic, Chromosome 8 ring, Chromosome 8 monosomy 8p, Chromosome 8 monosomy 8p23 1, Chromosome 8 monosomy 8q, Chromosome 8 trisomy 8p, Chromosome 8 trisomy 8q, Chromosome 9 Ring, Chromosome 9 monosomy 9p, Chromosome 9 tetrasomy 9p, Chromosome 9 trisomy 9q, Chromosome 9p trisomy, Chronic active Epstein-Barr virus infection, Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, Chronic berylliosis, Chronic demyelinizing neuropathy with IgM monoclonal, Chronic erosive gastritis, Chronic granulomatous disease, Chronic Infantile Neurological Cutaneous Articular syndrome, Chronic inflammatory demyelinating polyneuropathy, Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, Chronic lymphocytic leukemia, Chronic myeloid leukemia, Chronic myelomonocytic leukemia, Chronic myeloproliferative disorders, Chronic neutrophilic leukemia, Chronic polyradiculoneuritis, Chronic progressive external ophthalmoplegia, Chronic recurrent multifocal osteomyelitis, Chudley Rozdilsky syndrome, Chudley-Mccullough syndrome, Churg Strauss syndrome, Chylomicron retention disease, Chylothorax congenital, Chylous ascites, Cicatricial pemphigoid, Ciguatera fish poisoning, Ciliary discoordination due to random ciliary orientation, Ciliary dyskinesia with excessively long cilia, Ciliary dyskinesia due to transposition of ciliary microtubules, Ciliary dyskinesia-bronchiectasis, Cilliers Beighton syndrome, Circumscribed cutaneous aplasia of the vertex, Circumscribed disseminated keratosis Jadassohn Lew type, Citrulline transport defect, Citrullinemia type I, Clark-Baraitser syndrome, Clasped thumbs congenital, Classic Kaposi sarcoma, Clayton-Smith Donnai syndrome, Clear cell renal cell carcinoma, Cleft hand absent tibia, Cleft lip and palate malrotation cardiopathy, Cleft lip and/or palate with mucous cysts of lower, Cleft lip palate abnormal thumbs microcephaly, Cleft lip palate dysmorphism Kumar type, Cleft lip palate mental retardation corneal opacity, Cleft lip palate oligodontia syndactyly pili torti, Cleft lip palate pituitary deficiency, Cleft lip palate-tetraphocomelia, Cleft lower lip cleft lateral canthi chorioretinal, Cleft palate cardiac defect ectrodactyly, Cleft palate colobomata radial synostosis deafness, Cleft palate heart disease polydactyly absent tibia, Cleft palate lateral synechia syndrome, Cleft palate short stature vertebral anomalies, Cleft palate stapes fixation oligodontia, Cleft palate X-linked, Cleft palate midfacial hypoplasia triangular facies and sensorineural hearing loss, Cleft tongue syndrome, Cleft upper lip median cutaneous polyps, Cleidocranial dysplasia, Cleidocranial dysplasia recessive form, Cleidorhizomelic syndrome, Cloacal exstrophy, Clostridium difficile, Clostridium sordellii, Cluster headache, Cluttering, CMV antenatal infection, COACH syndrome, Coal worker's pneumoconiosis, Coarctation of aorta dominant, Coarse face hypotonia constipation, Coats disease, Cocaine antenatal infection, Coccidioidomycosis, Coccygodynia, Cochleosaccular degeneration of the inner ear and progressive cataracts, Cockayne syndrome, Cockayne syndrome type I, Cockayne syndrome type II, Cockayne syndrome type III, CODAS syndrome, Coenzyme Q cytochrome c reductase deficiency, Coenzyme Q10 deficiency, Coffin syndrome 1, Coffin-Lowry syndrome, Coffin-Siris syndrome, Cogan's syndrome, Cogan-Reese syndrome, Cohen Hayden syndrome, Cohen Lockood Wyborney syndrome, Cohen syndrome, Cold agglutinin disease, Cold contact urticaria, Cole Carpenter syndrome, Collagenopathy type 2 alpha 1, Collagenous colitis, Collecting duct carcinoma, Collins Pope syndrome, Collins Sakati syndrome, Colloid cysts of third ventricle, Coloboma chorioretinal cerebellar vermis aplasia, Coloboma hair abnormality, Coloboma of alar-nasal cartilages with telecanthus, Coloboma of choroid and retina, Coloboma of eye lens, Coloboma of iris, Coloboma of lens ala nasi, Coloboma of macula, Coloboma of macula with type B brachydactyly, Coloboma of optic nerve, Coloboma of optic papilla, Coloboma porencephaly hydronephrosis, Coloboma cleft lip/palate and mental retardation syndrome, Colobomata unilobar lung heart defect, Colobomatous microphthalmia heart disease hearing, Colonic atresia, Colonic malakoplakia, Colorectal cancer childhood, Colpocephaly, Colver Steer Godman syndrome, Combarros Calleja Leno syndrome, Combined malonic and methylmalonic aciduria, Common variable immunodeficiency, Compartment syndrome, Complement component 2 deficiency, Complement component 8 deficiency type 1, Complement component 8 deficiency type 2, Complement component deficiency, Complement component receptor 1, Complement receptor deficiency, Complete atrioventricular canal, Conductive deafness malformed external ear, Cone dystrophy X-linked with tapetal-like sheen, Cone-rod dystrophy, Cone-rod dystrophy 1, Cone-rod dystrophy 2, Cone-rod dystrophy 3, Cone-rod dystrophy 5, Cone-rod dystrophy 6, Cone-rod dystrophy amelogenesis imperfecta, Cone-rod dystrophy X-linked 1, Cone-rod dystrophy X-linked 2, Cone-rod dystrophy X-linked 3, Congenital absence of the sternocleidomastoid muscle, Congenital adrenal hyperplasia, Congenital alopecia X-linked, Congenital amegakaryocytic thrombocytopenia, Congenital amputation, Congenital aneurysms of the great vessels, Congenital anosmia, Congenital antithrombin deficiency, Congenital antithrombin deficiency type 2, Congenital antithrombin deficiency type 3, Congenital aplastic anemia, Congenital arteriovenous shunt, Congenital articular rigidity, Congenital benign spinal muscular atrophy dominant, Congenital bilateral absence of the vas deferens, Congenital bronchobiliary fistula, Congenital cardiovascular shunt, Congenital central hypoventilation syndrome, Congenital chloride diarrhea, Congenital contractural arachnodactyly, Congenital contractures, Congenital craniosynostosis maternal hyperthyroiditis, Congenital cystic eye, Congenital cystic eye multiple ocular and intracranial anomalies, Congenital cytomegalovirus, Congenital diaphragmatic hernia, Congenital dislocation of the patella, Congenital disorder of glycosylation type 1A, Congenital disorder of glycosylation type 1B, Congenital disorder of glycosylation type 1C, Congenital disorder of glycosylation type 1D, Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1F, Congenital disorder of glycosylation type 1G, Congenital disorder of glycosylation type 1H, Congenital disorder of glycosylation type 1I, Congenital disorder of glycosylation type 1J, Congenital disorder of glycosylation type 1K, Congenital disorder of glycosylation type 1L, Congenital disorder of glycosylation type 2A, Congenital disorder of glycosylation type 2B, Congenital disorder of glycosylation type 2C, Congenital disorder of glycosylation type 2D, Congenital disorder of glycosylation type 2E, Congenital disorder of glycosylation type 2G, Congenital disorder of glycosylation type I/IIX, Congenital disorders of glycosylation, Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia type 1, Congenital dyserythropoietic anemia type 2, Congenital dyserythropoietic anemia type 3, Congenital ectodermal dysplasia with hearing loss, Congenital fiber type disproportion, Congenital generalized fibromatosis, Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 2, Congenital giant megaureter, Congenital heart block, Congenital heart disease ptosis hypodontia craniostosis, Congenital heart disease radio ulnar synostosis mental retardation, Congenital hemolytic anemia, Congenital hepatic fibrosis, Congenital herpes simplex, Congenital human immunodeficiency virus, Congenital hypomyelination neuropathy, Congenital hypothyroidism, Congenital hypotrichosis milia, Congenital ichthyosis microcephalus quadriplegia, Congenital ichtyosiform erythroderma, Congenital lipoid adrenal hyperplasia, Congenital megalo-ureter, Congenital mesoblastic nephroma, Congenital mitral malformation, Congenital mitral stenosis, Congenital mixovirus, Congenital mumps, Congenital Muscular dystrophy, Congenital muscular dystrophy syringomyelia, Congenital myasthenic syndrome with episodic apnea, Congenital myotonic dystrophy, Congenital nephrotic syndrome Finnish type, Congenital nonhemolytic jaundice, Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital porphyria, Congenital primary aphakia, Congenital pseudoarthrosis, Congenital pulmonary alveolar proteinosis, Congenital pulmonary lymphangiectasia, Congenital short femur, Congenital stenosis of cervical medullary canal, Congenital sucrase-isomaltase deficiency, Congenital sucrose isomaltose malabsorption, Congenital torticollis, Congenital tracheomalacia, Congenital unilateral pulmonary hypoplasia, Congenital vagal hyperreflexivity, Congenital varicella syndrome, Congenitally corrected transposition of the great arteries, Conjunctival melanoma, Conjunctivitis ligneous, Conjunctivitis with Pseudomembrane, Conn's syndrome, Connective tissue dysplasia Spellacy type, Conotruncal anomaly face syndrome, Conotruncal heart malformations, Continuous muscle fiber activity hereditary, Continuous spike-wave during slow sleep syndrome, Contractures ectodermal dysplasia cleft lip palate, Conversion disorder, Convulsions benign familial neonatal dominant form, Convulsions benign familial infantile 1, Copper deficiency familial benign, CoQ-responsive OXPHOS deficiency, Cor biloculare, Cor triatriatum, Cormier Rustin Munnich syndrome, Cornea guttata with anterior polar cataract, Corneal anesthesia deafness mental retardation, Corneal crystals myopathy neuropathy, Corneal dystrophy and perceptive deafness, Corneal dystrophy Avellino type, Corneal dystrophy crystalline of Schnyder, Corneal dystrophy Fuchs endothelial 1, Corneal dystrophy ichthyosis microcephaly mental retardation, Corneal dystrophy of Bowman layer type 1, Corneal dystrophy pigmentary anomaly malabsorption, Corneal dystrophy Thiel Behnke type, Corneal dystrophy lattice ype 2, Corneal endothelial dystrophy type 2, Corneal hypesthesia familial, Cornelia de Lange syndrome, Corneodermatoosseous syndrome, Coronal synostosis syndactyly and jejunal atresia, Coronaro-cardiac fistula, Coronary arteries congenital malformation, Coronary artery aneurysm, Corpus callosum agenesis, Corpus callosum agenesis double urinary collecting, Corpus callosum agenesis of blepharophimosis Robin type, Corpus callosum agenesis polysyndactyly, Corpus callosum dysgenesis cleft spasm, Corpus callosum dysgenesis hypopituitarism, Corpus callosum dysgenesis X-linked recessive, Corsello Opitz syndrome, Cortada Koussef Matsumoto syndrome, Cortes Lacassie syndrome, Cortical blindness mental retardation polydactyly, Cortical defects wormian bones and dentinogenesis imperfecta, Cortical hyperostosis syndactyly, Corticobasal degeneration, Cortisone reductase deficiency, Costello syndrome, Costocoracoid ligament congenitally short, Cote Katsantoni syndrome, Cough headache, Cousin syndrome, Cowchock syndrome, Cowden's disease, Coxa vara congenital, Coxoauricular syndrome, Cramp-fasciculations syndrome, Crandall syndrome, Crane-Heise syndrome, Cranio osteoarthropathy, Cranioacrofacial syndrome, Craniodiaphyseal dysplasia, Craniodigital syndrome mental retardation, Cranioectodermal dysplasia, Craniofacial and skeletal defects, Craniofacial deafness hand syndrome, Craniofacial dysostosis arthrogryposis progeroid appearence, Craniofacial dysostosis with diaphyseal hyperplasia, Craniofacial dyssynostosis, Craniofacial dystonia, Craniofacial malformations asymmetric with polysyndactyly and abnormal skin and gut development, Craniofaciocardioskeletal syndrome, Craniofaciocervical osteoglyphic dysplasia, Craniofrontonasal dysplasia, Craniofrontonasal syndrome Teebi type, Craniometaphyseal dysplasia autosomal dominant, Craniometaphyseal dysplasia autosomal recessive type, Craniomicromelic syndrome, Craniopharyngioma, Craniorachischisis, Craniostenosis cataract, Craniostenosis with congenital heart disease mental retardation, Craniosynostosis, Craniosynostosis alopecia brain defect, Craniosynostosis arthrogryposis cleft palate, Craniosynostosis autosomal dominant, Craniosynostosis cleft lip palate arthrogryposis, Craniosynostosis contractures cleft, Craniosynostosis exostoses nevus epibulbar dermoid, Craniosynostosis Fontaine type, Craniosynostosis Maroteaux Fonfria type, Craniosynostosis mental retardation clefting syndrome, Craniosynostosis mental retardation heart defects, Craniosynostosis Philadelphia type, Craniosynostosis anal anomalies and porokeratosis, Craniosynostosis-mental retardation syndrome of Lin and Gettig, Craniotelencephalic dysplasia, Crawfurd syndrome, Creatine deficiency X-linked, Creeping myiasis, CREST syndrome, Cretinism athyreotic, Creutzfeldt-Jakob disease, Cri du chat syndrome, Crigler Najjar syndrome type 1, Crigler Najjar syndrome type 2, Crisponi syndrome, Crohn's disease of the esophagus, Crome syndrome, Cronkhite-Canada disease, Crossed polydactyly type 1, Crossed polysyndactyly, Crouzon syndrome, Crumpled helices and small mouth, Cryofibrinogenemia, Cryoglobulinemia, Cryoglobulinemia familial mixed, Cryptococcosis, Cryptogenic Organizing Pneumonia, Cryptomicrotia brachydactyly syndrome, Cryptophthalmos, Cryptorchidism arachnodactyly mental retardation, Cryptosporidiosis, Curly hair ankyloblepharon nail dysplasia syndrome, Curly hair-acral keratoderma-caries syndrome, Currarino triad, Cushing syndrome familial, Cushing's symphalangism, Cushing's syndrome, Cutaneous anthrax, Cutaneous larva migrans, Cutaneous lupus erythematosus, Cutaneous mastocytosis, Cutaneous necrotizing vasculitis, Cutaneous photosensitivity and colitis lethal, Cutaneous polyarteritis nodosa, Cutaneous sclerosis, Cutaneous T-cell lymphoma, Cutis Gyrata syndrome of Beare and Stevenson, Cutis gyratum acanthosis nigricans craniosynostosis, Cutis laxa, Cutis laxa osteoporosis, Cutis laxa autosomal dominant, Cutis laxa autosomal recessive type 1, Cutis laxa autosomal recessive type 2A, Cutis laxa autosomal recessive type 2B, Cutis marmorata telangiectatica congenita, Cutis verticis gyrata, Cutis verticis gyrata mental deficiency, Cutler Bass Romshe syndrome, Cyclic neutropenia, Cyclic thrombocytopenia, Cyclic vomiting syndrome, Cyclosporiasis, Cyprus facial neuromusculoskeletal syndrome, Cystic adenomatoid malformation of lung, Cystic fibrosis, Cystic hamartoma of lung and kidney, Cystic hygroma, Cystic hygroma lethal cleft palate, Cystic medial necrosis of aorta, Cysticercosis, Cystin transport protein defect of, Cystinosis, Cystinosis ocular nonnephropathic, Cystinuria, Cystinuria-lysinuria, Cystosarcoma phyllodes, Cytokine deficiency, Cytokine receptor deficiency, Cytomegalic inclusion disease, Cytomegalovirus retinitis, Cytoplasmic body myopathy, Czech dysplasia metatarsal type, Czeizel Losonci syndrome

Rare Diseases and Disorders - Starting With "D"

D ercole syndrome, D-2-alpha hydroxyglutaric aciduria, D-bifunctional protein deficiency, D-glycericacidemia, D-minus hemolytic uremic syndrome (D-HUS), D-plus hemolytic uremic syndrome (D+HUS), Daentl Towsend Siegel syndrome, Dahlberg Borer Newcomer syndrome, Daish Hardman Lamont syndrome, Dancing eyes-dancing feet syndrome, Dandy-Walker complex, Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia, Dandy-Walker like malformation with atrioventricular septal defect, Dandy-Walker malformation associated with macrocephaly facial anomalies developmental delay and brain stem dysgenesis, Dandy-Walker malformation with facial hemangioma, Dandy-Walker malformation with mental retardation basal ganglia disease and seizures, Dandy-Walker malformation with mental retardation macrocephaly myopia and brachytelephalangy, Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia, Dandy-Walker malformation with postaxial polydactyly, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Daneman Davy Mancer syndrome, Danon disease, Darier disease, Dauwerse-Peters syndrome, Davenport Donlan syndrome, Davis Lafer syndrome, De Barsy syndrome, De Hauwere Leroy Adriaenssens syndrome, De Quervains' disease, De Sanctis-Cacchione syndrome, Deafness conductive ptosis skeletal anomalies, Deafness conductive stapedial ear malformation facial palsy, Deafness craniofacial syndrome, Deafness enamel hypoplasia nail defects, Deafness epiphyseal dysplasia short stature, Deafness goiter stippled epiphyses, Deafness hyperuricemia neurologic ataxia, Deafness hypogonadism syndrome, Deafness hypospadias metacarpal and metatarsal syndrome, Deafness mesenteric diverticula of small bowel neuropathy, Deafness mixed with perilymphatic Gusher X-linked, Deafness nephritis anorectal malformation, Deafness oligodontia syndrome, Deafness onychodystrophy dominant form, Deafness onychodystrophy osteodystrophy and mental retardation syndrome, Deafness peripheral neuropathy arterial disease, Deafness progressive cataract autosomal dominant, Deafness skeletal dysplasia lip granuloma, Deafness vitiligo achalasia, Deafness white hair contractures papillomas, Deafness with labyrinthine aplasia microtia and microdontia (LAMM), Deafness X-linked DFN3, Deafness autosomal dominant nonsyndromic sensorineural 17, Deafness autosomal dominant nonsyndromic sensorineural 22, Deafness autosomal dominant nonsyndromic sensorineural 23, Deafness autosomal dominant nonsyndromic sensorineural 24, Deafness autosomal dominant nonsyndromic sensorineural 3, Deafness autosomal dominant nonsyndromic sensorineural 53, Deafness autosomal recessive 51, Deafness autosomal recessive 55, Deafness isolated due to mitochondrial transmission, Deafness neurosensory nonsyndromic recessive DFN, Deafness neurosensory autosomal recessive 47, Deafness progressive with stapes fixation, Deafness X-linked 2, Deafness X-linked DFN, Deal Barratt Dillon syndrome, Defective apolipoprotein B-100, Deficiency of interleukin-1 receptor antagonist, Degos 'en cocarde' erythrokeratoderma, Degos disease, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema, Delayed membranous cranial ossification, Delayed speech facial asymetry strabismus ear lobe creases, Delleman Oorthuys syndrome, Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency, Delta-sarcoglycanopathy, Dementia familial British, Dementia familial Danish, Demodicidosis, Dengue fever, Dennis Fairhurst Moore syndrome, Dens in dente and palatal invaginations, Dent disease 1, Dent disease 2, Dentatorubral pallidoluysian atrophy, Dentin dysplasia sclerotic bones, Dentin dysplasia coronal, Dentin dysplasia type 1, Dentinogenesis imperfecta 1, Dentinogenesis imperfecta Shields type 3, Denys-Drash syndrome, Depersonalization disorder, Der Kaloustian Mcintosh Silver syndrome, Dermal eccrine cylindroma, Dermatitis herpetiformis familial, Dermatocardioskeletal syndrome Boronne type, Dermatofibroma, Dermatofibrosarcoma protuberans, Dermatoleukodystrophy, Dermatomyositis, Dermatoosteolysis Kirghizian type, Dermatopathia pigmentosa reticularis, Dermochondrocorneal dystrophy of Franûáois, Dermoids of cornea, Dermoodontodysplasia, Desbuquois syndrome, Desmoid disease hereditary, Desmoid tumor, Desmoplastic infantile astrocytoma, Desmoplastic infantile ganglioglioma, Desmoplastic small round cell tumor, Desmosterolosis, Developmental delay hypotonia extremities hypertrophy, Developmental dysphasia familial, Developmental dysplasia of hip, Devic disease, Devriendt syndrome, Dextrocardia, Dextrocardia with situs inversus, Dextrocardia with unusual facies and microphthalmia, Dextrocardia-bronchiectasis-sinusitis, DFNB1, Di Guglielmo's syndrome, Diabetes hypogonadism deafness mental retardation, Diabetes insipidus nephrogenic mental retardation and intracerebral calcification, Diabetes mellitus transient neonatal, Diabetes persistent mullerian ducts, Diabetes-deafness syndrome maternally transmitted, Diabetic mastopathy, Diamond-Blackfan anemia, Diamond-Blackfan anemia 2, Diamond-Blackfan anemia 3, Dianzani autoimmune lymphoproliferative syndrome, Diaphragmatic agenesis radial aplasia omphalocele, Diaphragmatic defect limb deficiency skull defect, Diaphragmatic hernia exomphalos corpus callosum agenesis, Diaphragmatic hernia upper limb defects, Diaphyseal medullary stenosis with malignant fibrous histiocytoma, Diastematomyelia, Diastrophic dysplasia, Dibasic aminoaciduria 1, Dibasic aminoaciduria 2, Dicarboxylic aminoaciduria, DICER1-related pleuropulmonary blastoma cancer predisposition syndrome, Die Smulders Droog Van Dijk syndrome, Die Smulders Vles Fryns syndrome, Diencephalic syndrome, Dieterich's disease, Diethylstilbestrol antenatal infection, Diffuse astrocytoma, Diffuse cavernous hemangioma of the rectum, Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, Diffuse neonatal hemangiomatosis, Diffuse palmoplantar keratoderma Bothnian type, Diffuse panbronchiolitis, Diffuse scleroderma, Diffuse systemic sclerosis, DiGeorge syndrome, Digitorenocerebral syndrome, Dihydropteridine reductase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydroxyadeninuria, Dilated cardiomyopathy, Dimauro disease, Dincsoy Salih Patel syndrome, Diomedi Bernardi Placidi syndrome, Dionisi Vici Sabetta Gambarara syndrome, Diphallia, Diphallus rachischisis imperforate anus, Diphosphoglycerate mutase deficiency of erythrocyte, Diphtheria, Diploid-triploid mosaicism, Diprosopia, Dipsogenic diabetes insipidus, Dissecting cellulitis of the scalp, Disseminated infection with mycobacterium avium complex, Distal arthrogryposis Moore Weaver type, Distal myopathy Markesbery-Griggs type, Distal myopathy with vocal cord weakness, Distal primary acidosis familial, Distichiasis heart congenital anomalies, Distomatosis, DK phocomelia syndrome, Dobrow syndrome, Dominant cleft palate, Dominant ichthyosis vulgaris, Donnai Barrow syndrome, Dopamine beta hydroxylase deficiency, Dosage-sensitive sex reversal, Double cortex syndrome, Double discordia, Double fingernail of fifth finger, Double nails on the fifth toe, Double outlet left ventricle, Double outlet right ventricle, Double tachycardia induced by catecholamines, Double uterus-hemivagina-renal agenesis, Dowling-Degos disease, Doxorubicin induced cardiomyopathy, Doyne honeycomb retinal dystrophy, Drachtman Weinblatt Sitarz syndrome, Dracunculiasis, Dravet syndrome, Duane anomaly mental retardation, Duane syndrome, Duane syndrome type 1, Duane syndrome type 2, Duane syndrome type 3, Duane-radial ray syndrome, Dubin-Johnson syndrome, Dubowitz syndrome, Duchenne muscular dystrophy, Duhring Brocq disease, Duker Weiss Siber syndrome, Duodenal atresia, Duodenal atresia tetralogy of Fallot, Duodenal ulcer due to antral G-cell hyperfunction, Duodenojejunal atresia with volvulus absent dorsal mesentery and absent superior mesenteric artery, Duplication of leg mirror foot, Duplication of the thumb unilateral biphalangeal, Duplication of urethra, Dupont Sellier Chochillon syndrome, Dupuytren subungual exostosis, Dwarfism bluish sclerae, Dwarfism deafness retinitis pigmentosa, Dwarfism familial with muscle spasms, Dwarfism lethal type advanced bone age, Dwarfism Levi type, Dwarfism stiff joint ocular abnormalities, Dwarfism tall vertebrae, Dwarfism thin bones multiple fractures, Dwarfism low-birth-weight type with unresponsiveness to growth hormone, Dwarfism mental retardation and eye abnormality, Dwarfism proportionate with hip dislocation, Dyggve-Melchior-Clausen syndrome, Dykes Markes Harper syndrome, Dysautonomia like disorder, Dyschondrosteosis nephritis, Dyschromatosis symmetrica hereditaria 1, Dyschromatosis universalis hereditaria, Dysembryoplastic neuroepithelial tumor, Dysequilibrium syndrome, Dysesthetic Vulvodynia, Dysferlinopathy, Dysfibrinogenemia, Dysgnathia complex, Dysharmonic skeletal maturation muscular fiber disproportion, Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita autosomal recessive, Dyskeratosis congenita X-linked, Dyskinesia drug induced, Dysmorphism abnormal vocalization mental retardation, Dysmorphism cleft palate loose skin, Dysosteosclerosis, Dysostosis acral with facial and genital abnormalities, Dysostosis peripheral, Dysphasic dementia hereditary, Dysplasia epiphysealis hemimelica, Dysplastic cortical hyperostosis, Dysraphism cleft lip palate limb reduction defects, Dyssegmental dysplasia and glaucoma, Dyssegmental dysplasia Rolland-Desbuquois type, Dyssegmental dysplasia Silverman-Handmaker type, Dyssynergia cerebellaris myoclonica, Dystelephalangy, Dystonia 1, Dystonia 10, Dystonia 11, Dystonia 12, Dystonia 13, Dystonia 15 myoclonic, Dystonia 16, Dystonia 17, Dystonia 18, Dystonia 19, Dystonia 2 torsion autosomal recessive, Dystonia 3 torsion X-linked, Dystonia 4 torsion autosomal dominant type, Dystonia 5 Dopa-responsive type, Dystonia 6 torsion, Dystonia 7 torsion, Dystonia 8, Dystrophic epidermolysis bullosa, Dystrophinopathy

Rare Diseases and Disorders - Starting With "E"

EAF, Eagle syndrome, Eales disease, Early-onset ataxia with oculomotor apraxia and hypoalbuminemia, Eastern equine encephalitis, Ebola virus disease, Ebstein's anomaly, Eccentrochondrodysplasia, Eccrine acrospiroma, Eccrine mucinous carcinoma, Eclampsia, Ectodermal dysplasia, Ectodermal dysplasia 2 hidrotic, Ectodermal dysplasia adrenal cyst, Ectodermal dysplasia alopecia preaxial polydactyly, Ectodermal dysplasia anhidrotic, Ectodermal dysplasia arthrogryposis diabetes mellitus, Ectodermal dysplasia Bartalos type, Ectodermal dysplasia Berlin type, Ectodermal dysplasia blindness, Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia, Ectodermal dysplasia Margarita type, Ectodermal dysplasia mental retardation CNS malformation, Ectodermal dysplasia mental retardation syndactyly, Ectodermal dysplasia neurosensory deafness, Ectodermal dysplasia osteosclerosis, Ectodermal dysplasia skin fragility syndrome, Ectodermal dysplasia trichoodontoonychial type, Ectodermal dysplasia with natal teeth Turnpenny type, Ectodermal dysplasia hidrotic Christianson-Fourie type, Ectodermal dysplasia sensorineural hearing loss and distinctive facial features, Ectopia lentis isolated autosomal recessive, Ectopia pupillae, Ectopic ossification familial type, Ectopic pregnancy, Ectrodactyly and ectodermal dysplasia without cleft lip/palate, Ectrodactyly cardiopathy dysmorphism, Ectrodactyly cleft palate syndrome, Ectrodactyly polydactyly, Ectropion inferior cleft lip and or palate, Edinburgh malformation syndrome, Edwards Patton Dilly syndrome, Edwards syndrome, EEC syndrome, EEM syndrome, Egg shaped pupils, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome arthrochalasia type, Ehlers-Danlos syndrome Beasley Cohen type, Ehlers-Danlos syndrome dermatosparaxis type, Ehlers-Danlos syndrome dysfibronectinemic type, Ehlers-Danlos syndrome hypermobility type, Ehlers-Danlos syndrome kyphoscoliotic type, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome type 5, Ehlers-Danlos syndrome vascular type, Ehlers-Danlos syndrome classic type, Ehlers-Danlos-like syndrome due to tenascin-X deficiency, Ehrlichiosis, Eisenmenger syndrome, Elastosis perforans serpiginosa, Elective mutism, Elliott Ludman Teebi syndrome, Ellis Yale Winter syndrome, Ellis-Van Creveld syndrome, Emanuel syndrome, Embryonal carcinoma, Embryonal sarcoma, Emerinopathy, Emery Nelson syndrome, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy dominant type, Emery-Dreifuss muscular dystrophy X-linked, Emphysema congenital lobar, Empty sella syndrome, Enamel hypoplasia cataract hydrocephaly, Encephalitis lethargica, Encephalocele, Encephalocele anencephaly, Encephalocraniocutaneous lipomatosis, Encephalomyopathy, Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration, Encephalopathy progressive optic atrophy, Encephalopathy recurrent of childhood, Encephalopathy-basal ganglia-calcification, Enchondroma, Enchondromatosis dwarfism deafness, Endemic Kaposi sarcoma, Endocardial fibroelastosis, Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease, Endometrial stromal sarcoma, Endomyocardial fibroelastosis, Endomyocardial fibrosis, Eng Strom syndrome, Engelhard Yatziv syndrome, Enlarged vestibular aqueduct syndrome, Enolase deficiency type 1, Enolase deficiency type 2, Enolase deficiency type 3, Enolase deficiency type 4, Enterobiasis, Enteropathica, Enteropathy-associated T-cell lymphoma, Enterovirus antenatal infection, Envenomization by bothrops lanceolatus, Eosinophilia-myalgia syndrome, Eosinophilic cryptitis, Eosinophilic cystitis, Eosinophilic enteropathy, Eosinophilic fasciitis, Eosinophilic pustular folliculitis, Ependymoblastoma, Ependymoma, Epidermal nevus vitamin D resistant rickets, Epidermodysplasia verruciformis, Epidermolysa bullosa simplex with muscular dystrophy, Epidermolysis bullosa, Epidermolysis bullosa acquisita, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex Dowling-Meara type, Epidermolysis bullosa simplex generalized, Epidermolysis bullosa simplex localized, Epidermolysis bullosa simplex Ogna type, Epidermolysis bullosa late-onset localized junctional with mental retardation, Epidermolysis bullosa lethal acantholytic, Epidermolysis bullosa pretibial, Epilepsy benign neonatal dominant form, Epilepsy benign neonatal recessive form, Epilepsy juvenile absence, Epilepsy mental deterioration Finnish type, Epilepsy microcephaly skeletal dysplasia, Epilepsy occipital calcifications, Epilepsy progressive myoclonic type 3, Epilepsy telangiectasia, Epilepsy with myoclono-astatic crisis, Epilepsy benign occipital, Epilepsy female restricted with mental retardation, Epilepsy nocturnal frontal lobe type, Epilepsy partial familial, Epilepsy rolandic with paroxysmal exercise-induced dystonia and writer's cramp, Epileptic encephalopathy Lennox-Gastaut type, Epimerase deficiency, Epimetaphyseal dysplasia cataract, Epimetaphyseal skeletal dysplasia, Epiphyseal dysplasia dysmorphism camptodactyly, Epiphyseal dysplasia hearing loss dysmorphism, Epiphyseal dysplasia multiple with early-onset diabetes mellitus, Episodic ataxia, Episodic ataxia with nystagmus, Epithelial basement membrane corneal dystrophy, Epithelial-myoepithelial carcinoma, Epithelioid sarcoma, Epitheliopathy acute posterior multifocal placoid pigment, Erdheim-Chester disease, Ermine phenotype, Eronen Somer Gustafsson syndrome, Erosive pustular dermatosis of the scalp, Erysipelas, Erythema elevatum diutinum, Erythema multiforme, Erythema nodosum familial, Erythema nodosum idiopathic, Erythroderma desquamativa of Leiner, Erythroderma lethal congenital, Erythrokeratodermia ataxia, Erythrokeratodermia progressive symmetrica ichthyosis, Erythrokeratodermia symmetrica progressiva, Erythrokeratodermia variabilis ichthyosis, Erythrokeratodermia variabilis Mendes da Costa type, Erythrokeratodermia with ataxia, Erythromelalgia primary, Erythroplakia, Erythropoietic protoporphyria, Escher Hirt syndrome, Escobar syndrome type B, Esophageal atresia, Esophageal atresia associated anomalies, Esophageal atresia coloboma talipes, Esophageal cancer, Esophageal cancer childhood, Esophageal duodenal atresia abnormalities of hands, Esophageal varices, Esotropia, Essential thrombocythemia, Esthesioneuroblastoma, Ethylmalonic encephalopathy, Eunuchoidism familial hypogonadotropic, Evans syndrome, Ewing's family of tumors, Ewing's sarcoma, Exencephaly, Exercise induced anaphylaxis, Exercise-induced hyperinsulinemic hypoglycemia, Exertional headache, Exfoliative dermatitis, Exogenous lipoid pneumonia, Exogenous ochronosis, Exostoses anetodermia brachydactyly type E, Exostoses multiple type 1, Exostoses multiple type 2, Exostoses multiple type 3, Exstrophy of the bladder, Exstrophy of the bladder-epispadias, Exsudative retinopathy familial autosomal dominant, Exsudative retinopathy familial autosomal recessive, Exsudative retinopathy familial X-linked recessive, Exsudative retinopathy familial, Extracranial germ cell tumor childhood, Extragonadal germ cell tumor, Extrasystoles short stature hyperpigmentation microcephaly, Eyebrows duplication of with stretchable skin and syndactyly

Rare Diseases and Disorders - Starting With "F"

Fabry disease, FACES syndrome, Facial asymetry temporal seizures, Facial clefting corpus callosum agenesis, Facial dysmorphism shawl scrotum joint laxity syndrome, Facial ectodermal dysplasia, Facies unusual arthrogryposis advanced skeletal malformations, Facio digito genital syndrome recessive form, Facio skeletal genital syndrome Rippberger type, Facio thoraco genital syndrome, Faciocardiomelic dysplasia lethal, Faciocardiorenal syndrome, Faciomandibular myoclonus nocturnal, Facioscapulohumeral muscular dystrophy 1A, Factor 2 deficiency, Factor V deficiency, Factor VII deficiency, Factor X deficiency, Factor X deficiency congenital, Factor XI deficiency congenital, Factor XII deficiency, Factor XIII deficiency, Fairbank disease, Fallopian tube cancer, Fallot complex with severe mental and growth retardation, Fallot tetralogy, Familial adenomatous polyposis, Familial aortic dissection, Familial arteriosclerotic leukoencephalopathy alopecia lumbago without arterial hypertension, Familial band heterotopia, Familial bilateral striatal necrosis, Familial capillaro-venous leptomeningeal angiomatosis, Familial cold autoinflammatory syndrome, Familial colorectal cancer, Familial congenital fourth cranial nerve palsy, Familial cylindromatosis, Familial deafness, Familial dermographism, Familial dilated cardiomyopathy, Familial encephalopathy with neuroserpin inclusion bodies, Familial eosinophilia, Familial erythrocytosis 1, Familial exudative vitreoretinopathy, Familial hyperlipo-proteinemia type 1, Familial hypersecretion of adrenal androgens, Familial hypersensitivity pneumonitis, Familial hypertrophic cardiomyopathy, Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia type 1, Familial hypocalciuric hypercalcemia type 2, Familial hypocalciuric hypercalcemia type 3, Familial hypopituitarism, Familial hypothyroidism, Familial idiopathic basal ganglia calcification, Familial interstitial fibrosis, Familial Mediterranean fever, Familial multiple trichodiscomas, Familial myelofibrosis, Familial nasal acilia, Familial neurocardiogenic syncope, Familial non-immune hyperthyroidism, Familial opposable triphalangeal thumbs duplication, Familial partial paralysis, Familial periodic paralysis, Familial platelet disorder with associated myeloid malignancy, Familial porencephaly, Familial prostate cancer, Familial pulmonary arterial hypertension leucopenia and atrial septal defect, Familial renal cell carcinoma, Familial streblodactyly, Familial symmetric lipomatosis, Familial transthyretin amyloidosis, Familial Treacher Collins syndrome, Familial ventricular tachycardia, Familial Wilms tumor 2, Familial young-adult-onset arteriosclerotic, Fanconi anemia, Fanconi Bickel syndrome, Fanconi ichthyosis dysmorphism, Fanconi like syndrome, Fanconi renotubular syndrome, Fara Chlupackova syndrome, Farber's disease, Farmer's lung, Fascioliasis, Fatal familial insomnia, Fatal infantile encephalomyopathy, Fatty acid hydroxylase-associated neurodegeneration, Faulk Epstein Jones syndrome, Faye-Petersen Ward Carey syndrome, Fazio Londe syndrome, Febrile Ulceronecrotic Mucha-Habermann disease, Feigenbaum Bergeron Richardson syndrome, Feigenbaum Bergeron syndrome, Feingold Trainer syndrome, Felty's syndrome, Femoral facial syndrome, Femur bifid with monodactylous ectrodactyly, Femur fibula ulna syndrome, Fenton Wilkinson Toselano syndrome, Ferlini Ragno Calzolari syndrome, Fernhoff Blackston Oakley syndrome, Fertile eunuch syndrome, Fetal akinesia syndrome X-linked, Fetal Alcohol Spectrum Disorders, Fetal aminopterin syndrome, Fetal and neonatal alloimmune thrombocytopenia, Fetal antihypertensive drugs syndrome, Fetal brain disruption sequence, Fetal diethylstilbestrol syndrome, Fetal edema, Fetal enterovirus syndrome, Fetal hydantoin syndrome, Fetal indomethacin syndrome, Fetal iodine syndrome, Fetal left ventricular aneurysm, Fetal macrosomia, Fetal methimazole syndrome, Fetal methyl mercury syndrome, Fetal minoxidil syndrome, Fetal parainfluenza virus type 3 syndrome, Fetal parvovirus syndrome, Fetal phenothiazine syndrome, Fetal retinoid syndrome, Fetal thalidomide syndrome, Fetal valproate syndrome, Fetal warfarin syndrome, FG syndrome, FG syndrome 2, FG syndrome 3, FG syndrome 4, Fibrinogen deficiency congenital, Fibrocartilaginous embolism, Fibrochondrogenesis, Fibrodysplasia ossificans progressiva, Fibrolipomatosis, Fibromatosis juvenile hyaline, Fibromatosis multiple non ossifying, Fibromuscular dysplasia, Fibrosarcoma, Fibrosing alveolitis, Fibrosing mediastinitis, Fibrous dysplasia, Fibula aplasia complex brachydactyly, Fibular aplasia, Fibular aplasia ectrodactyly, Fibular hypoplasia and complex brachydactyly, Fibular hypoplasia scapulo pelvic dysplasia absent, Filippi syndrome, Fine-Lubinsky syndrome, Finger locking recurrent with intrauterine growth retardation and proportionate short stature, Fish-eye disease, Fistulous vegetative verrucous hydradenoma, Fitz-Hugh-Curtis syndrome, Fitzsimmons syndrome, Fitzsimmons Walson Mellor syndrome, Fitzsimmons-Guilbert syndrome, Flat umbilicus familial, Flaujeac factor deficiency, Flavimonas oryzihabitans, Floating-Harbor syndrome, Florid cemento-osseous dysplasia, Florid cystic endosalpingiosis of the uterus, Florid papillomatosis of the nipple, FLOTCH syndrome, Flynn Aird syndrome, Focal alopecia congenital megalencephaly, Focal cortical dysplasia of Taylor, Focal dermal hypoplasia, Focal dystonia, Focal facial dermal dysplasia, Focal or multifocal malformations in neuronal migration, Foix Chavany Marie syndrome, Follicle-stimulating hormone deficiency isolated, Follicular dendritic cell tumor, Follicular lymphoma, Follicular lymphoreticuloma, Fontaine Farriaux Blanckaert syndrome, Forbes Albright syndrome, Formaldehyde poisoning, Forney Robinson Pascoe syndrome, Fountain syndrome, Fowler's syndrome, Fox-Fordyce disease, Fragile X syndrome, Fragile X syndrome type 1, Fragile X syndrome type 2, Fragile X syndrome type 3, Fragile XE syndrome, Fragoso Cid Garcia Hernandez syndrome, Franceschini Vardeu Guala syndrome, Franek Bocker kahlen syndrome, Frank Ter Haar syndrome, Fraser Jequier Chen syndrome, Fraser like syndrome, Fraser syndrome, Frasier syndrome, FRAXD, Freeman Sheldon syndrome, Freiberg's disease, Freire-Maia odontotrichomelic syndrome, Frenkel Russe syndrome, Frey's syndrome, Frias syndrome, Friedel Heid Grosshans syndrome, Friedman Goodman syndrome, Friedreich ataxia, Friedreich ataxia congenital glaucoma, Frints De Smet Fabry Fryns syndrome, Froelich syndrome, Fronto nasal malformation cloacal exstrophy, Frontofacionasal dysplasia, Frontometaphyseal dysplasia, Frontonasal dysplasia, Frontonasal dysplasia acromelic, Frontonasal dysplasia Klippel Feil syndrome, Frontonasal dysplasia phocomelic upper limbs, Frontotemporal dementia, Frontotemporal dementia ubiquitin-positive, Froster huch syndrome, Fructose-1 6-bisphosphatase deficiency, Fryns Fabry Remans syndrome, Fryns Hofkens Fabry syndrome, Fryns smeets thiry syndrome, Fryns syndrome, Fuchs atrophia gyrata chorioideae et retinae, Fuchs heterochromic iridocyclitis, Fucosidosis, Fucosidosis type 1, Fuhrmann syndrome, Fukuda Miyanomae Nakata syndrome, Fukuyama type muscular dystrophy, Fumaric aciduria, Functioning pancreatic endocrine tumor, Fundus dystrophy pseudoinflammatory of Sorsby, Fuqua Berkovitz syndrome, Furunculous myiasis, Fused mandibular incisors

Rare Diseases and Disorders - Starting With "G"

Galactocele, Galactokinase deficiency, Galactorrhoea-Hyperprolactinaemia, Galactose epimerase deficiency, Galactosemia, Galactosialidosis, Gall bladder cancer, Game Friedman Paradice syndrome, Gamma aminobutyric acid transaminase deficiency, Gamma heavy chain disease, Gamma-cystathionase deficiency, Gangliocytoma, Ganglioglioma, Gangliosidosis generalized GM1 type 1, Gangliosidosis GM1 type 3, Gangliosidosis generalized GM1 type 2, GAPO syndrome, Gardner Morrison Abbot syndrome, Gardner syndrome, Gardner-Diamond syndrome, Garret Tripp syndrome, Gas bloat syndrome, Gastric duplication cysts, Gastric lymphoma, Gastro-enteropancreatic neuroendocrine tumor, Gastrocutaneous syndrome, Gastrointestinal Stromal Tumors, Gastroschisis, Gaucher disease, Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Gaucher ichthyosis restrictive dermopathy, Gaucher-like disease, Gay Feinmesser Cohen syndrome, Gelatinous ascites, Geleophysic dwarfism, Gemignani syndrome, Genee-Wiedemann syndrome, Generalized dominant dystrophic epidermolysis bullosa, Generalized resistance to thyroid hormone, Generalized torsion dystonia, Genetic reflex epilepsy, Geniospasm, Genital dwarfism, Genital dwarfism Turner type, Genito palato cardiac syndrome, Genoa syndrome, Genochondromatosis, Genu valgum st Helena familial, Geographic tongue, German syndrome, Germinoma, Geroderma osteodysplasticum, Gershinibaruch Leibo syndrome, Gershoni-Baruch syndrome, Gerstmann syndrome, Gestational diabetes insipidus, Gestational trophoblastic tumor, Ghosal hematodiaphyseal dysplasia syndrome, Ghosal syndrome, Ghose Sachdev Kumar syndrome, Gianotti Crosti syndrome, Giant axonal neuropathy, Giant cell myocarditis, Giant congenital nevus, Giant ganglionic hyperplasia, Giant mammary hamartoma, Giant papillary conjunctivitis, Giant platelet syndrome, Gigantism, Gigantism advanced bone age hoarse cry, Gigantomastia, Gingival fibromatosis with distinctive facies, Gingival fibromatosis with hypertrichosis, Gingival fibromatosis 1, Gingival fibromatosis 2, Gingival fibromatosis 3, Gingival fibromatosis 4, Gitelman syndrome, Glanders, Glanzmann thrombasthenia, Glass Chapman Hockley syndrome, Glassy cell carcinoma of the cervix, Glaucoma 3 primary infantile B, Glaucoma iridogoniodysgenesia, Glaucoma sleep apnea, Glaucoma type 1C, Glaucoma congenital, Glaucoma Ectopia Microspherophakia Stiff joints and Short stature syndrome, Glaucoma hereditary, Glaucoma hereditary adult type 1A, Glaucoma hereditary juvenile type 1B, Glaucoma primary infantile type 3A, Glioblastoma, Glioma, Gliomatosis cerebri, Gliosarcoma, Global disaccharide intolerance, Glomerulonephritis, Glomerulonephritis with sparse hair and telangiectases, Glomerulopathy with fibronectin deposits 1, Glomerulopathy with fibronectin deposits 2, Glomus jugulare tumors, Glomus tympanicum tumor, Glomus vagale tumors, Glossodynia, Glossopalatine ankylosis micrognathia ear anomalies, Glossopharyngeal neuralgia, Glucagonoma, Glucagonoma syndrome, Glucocorticoid deficiency familial, Glucocorticoid resistance, Glucocorticoid-remediable aldosteronism, Glucose 6 phosphate dehydrogenase deficiency, Glucose transporter type 1 deficiency syndrome, Glucose-6-phosphate translocase deficiency, Glucose-galactose malabsorption, Glucosephosphate isomerase deficiency, Glucosidase acid-1 4-alpha deficiency, Glut2 deficiency, Glutamate decarboxylase deficiency, Glutamate formiminotransferase deficiency, Glutamine deficiency congenital, Glutaric acidemia type I, Glutaric acidemia type II, Glutathione synthetase deficiency, Glutathionuria, Glyceraldehyde-3-phosphate dehydrogenase deficiency, Glycine encephalopathy, Glycine N-methyltransferase deficiency, Glycogen storage disease 8, Glycogen storage disease type 0, Glycogen storage disease type 0 muscle, Glycogen storage disease type 12, Glycogen storage disease type 13, Glycogen storage disease type 1A, Glycogen storage disease type 1B, Glycogen storage disease type 2, Glycogen storage disease type 3, Glycogen storage disease type 4, Glycogen storage disease type 5, Glycogen storage disease type 6, Glycogen storage disease type 6 due to phosphorylation, Glycogen storage disease type 7, Glycoproteinosis, Glycosylphosphatidylinositol deficiency, GM2 gangliosidosis 0 variant, GM2-gangliosidosis B B1 AB variant, Gms syndrome, Gnathostoma Infection, Goblet cell carcinoma, Goldberg-Shprintzen megacolon syndrome, Goldenhar disease, Goldmann-Favre syndrome, Goldstein Hutt syndrome, Gollop Coates syndrome, Gollop syndrome, GOMBO syndrome, Gomez Lopez Hernandez syndrome, Gonadal dysgenesis, Gonadal dysgenesis mixed, Gonadal dysgenesis Turner type, Gonadal dysgenesis XY type associated anomalies, Gonadal dysgenesis XX type, Goniodysgenesis mental retardation short stature, Gonococcal conjunctivitis, Gonzales Del Angel syndrome, Good syndrome, Goodman syndrome, Goodpasture syndrome, Gordon syndrome, Gorham's disease, Gorlin Bushkell Jensen syndrome, Gorlin Chaudhry Moss syndrome, Gouty nephropathy familial, Gracile bone dysplasia, GRACILE syndrome, Graham Boyle Troxell syndrome, Grand Kaine Fulling syndrome, Grant syndrome, Granulocytopenia, Granuloma annulare, Granuloma Inguinale, Granulomas congenital cerebral, Granulomatous Angiitis of the Central Nervous System, Granulomatous hypophysitis, Granulomatous rosacea, Granulosa cell tumor of the ovary, Graphite Pneumoconiosis, Graves' disease, Gray platelet syndrome, Green Sandford Davison syndrome, Greig cephalopolysyndactyly syndrome, Griscelli syndrome type 1, Griscelli syndrome type 2, Griscelli syndrome type 3, Grix Blankenship Peterson syndrome, Groenouw type I corneal dystrophy, Groll Hirschowitz syndrome, Grosse syndrome, Group B strep disease in newborns, Growth and mental retardation mandibulofacial dysostosis microcephaly and cleft palate, Growth deficiency brachydactyly unusual facies, Growth hormone deficiency, Growth hormone insensitivity with immunodeficiency, Growth mental deficiency syndrome of Myhre, Growth retardation alopecia pseudoanodontia optic, Growth retardation hydrocephaly lung hypoplasia, Growth retardation mental retardation phalangeal hypoplasia, Grubben de Cock Borghgraef syndrome, GTP cyclohydrolase I deficiency, Guanidinoacetate methyltransferase deficiency, Guillain-Barre syndrome, Guizar Vasquez Sanchez Manzano syndrome, Gupta Patton syndrome, Gurrieri syndrome, Guttate psoriasis, Gynandroblastoma

Rare Diseases and Disorders - Starting With "H"

Haemophilus influenzae, Hailey-Hailey disease, Haim-Munk syndrome, Hair defect with photosensitivity and mental retardation, Hairy cell leukemia, Hairy elbows, Hairy nose tip, Hairy palms and soles, Hairy tongue, Halal Setton Wang syndrome, Halal syndrome, Hall Riggs mental retardation syndrome, Hallermann-Streiff syndrome, Halo nevi, Hamanishi Ueba Tsuji syndrome, Hamano Tsukamoto syndrome, Hand and foot deformity with flat facies, Hand foot uterus syndrome, Hand-Schuller-Christian disease, Hanhart syndrome, Hansen's disease, Hantavirosis, Hantavirus pulmonary syndrome, Hard skin syndrome Parana type, Hardikar syndrome, Harding ataxia, Harlequin ichthyosis, Harlequin syndrome, Harrod Doman Keele syndrome, Hartnup disease, Hashimoto's encephalitis, Hashimoto-Pritzker syndrome, Hawkinsinuria, Hay-Wells syndrome, Heart defect tongue hamartoma and polysyndactyly, Heart tumor, Heart-hand syndrome Slovenian type, Heart-hand syndrome Spanish type, Heavy metal poisoning, HEC syndrome, Hecht Scott syndrome, Heinz body anemias, HELLP syndrome, Helminthiasis, Hemangioblastoma, Hemangioendothelioma, Hemangioma thrombocytopenia syndrome, Hemangiomatosis familial pulmonary capillary, Hemangiopericytoma, Hemeralopia congenital essential, Hemeralopia familial, Hemi 3 syndrome, Hemicrania continua, Hemifacial atrophy agenesis of the caudate nucleus, Hemifacial hyperplasia strabismus, Hemifacial myohyperplasia, Hemihypertrophy intestinal web corneal opacity, Hemimegalencephaly, Hemiplegia, Hemiplegic migraine, Hemiplegic migraine familial type 1, Hemiplegic migraine familial type 2, Hemochromatosis type 2, Hemochromatosis type 3, Hemochromatosis type 4, Hemoglobin C disease, Hemoglobin E disease, Hemoglobin SC disease, Hemoglobin sickle-beta thalassemia, Hemoglobin Zurich, Hemoglobinemia, Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities, Hemolytic uremic syndrome, Hemolytic uremic syndrome atypical, Hemolytic uremic syndrome atypical childhood, Hemophagocytic lymphohistiocytosis, Hemophagocytic lymphohistiocytosis familial 2, Hemophagocytic lymphohistiocytosis familial 3, Hemophagocytic lymphohistiocytosis familial 4, Hemophagocytic reticulosis, Hemophilia, Hemophilia A acquired, Hemophilia A congenital, Hemophilia B, Hemophilic arthropathy, Hemorrhagic fever, Hemorrhagic proctocolitis, Hemorrhagic shock and encephalopathy syndrome, Hemosiderosis, Hennekam syndrome, Hennekam Van der Horst syndrome, Henoch-Schonlein purpura, Hepadnavirus infection, Heparane sulfamidase deficiency, Heparin induced thrombocytopenia, Hepatic cystic hamartoma, Hepatic encephalopathy, Hepatic fibrosis renal cysts mental retardation, Hepatic venoocclusive disease with immunodeficiency, Hepatitis E, Hepatitis X (non-A -B -C -D -E), Hepatoblastoma, Hepatocellular carcinoma (fibrolamellar variant), Hepatocellular carcinoma adult, Hepatocellular carcinoma childhood, Hepatoerythropoietic porphyria, Hepatorenal syndrome, Hereditary amyloidosis, Hereditary angioedema, Hereditary ataxia, Hereditary cerebellar ataxia syndrome of early onset, Hereditary cerebral hemorrhage with amyloidosis, Hereditary congenital facial paresis, Hereditary coproporphyria, Hereditary elliptocytosis, Hereditary endotheliopathy retinopathy nephropathy and stroke, Hereditary fructose intolerance, Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia type 2, Hereditary hemorrhagic telangiectasia type 3, Hereditary hemorrhagic telangiectasia type 4, Hereditary hyperuricemia, Hereditary koilonychia, Hereditary lymphedema type II, Hereditary methemoglobinemia recessive, Hereditary mucoepithelial dysplasia, Hereditary multiple osteochondromas, Hereditary myopathy with intranuclear filamentous, Hereditary neuralgic amyotrophy, Hereditary neuropathy with liability to pressure palsy, Hereditary nodular heterotopia, Hereditary orotic aciduria without megaloblastic anaemia, Hereditary pancreatitis, Hereditary paroxysmal cerebral ataxia, Hereditary peripheral nervous disorder, Hereditary primary Fanconi disease, Hereditary resistance to anti-vitamin K, Hereditary sensory and autonomic neuropathy 3, Hereditary sensory and autonomic neuropathy type 2, Hereditary spastic paraplegia, Hereditary spherocytosis, Hereditary type 1 neuropathy, Hereditary type 2 neuropathy, Hereditary vascular retinopathy, Hermansky Pudlak syndrome 2, Hermansky-Pudlak syndrome, Herpes simiae (B virus), Herpes simplex encephalitis, Herpes virus antenatal infection, Herpes zoster ophthalmicus, Herpes zoster oticus, Herpesvirus simiae B virus, Herpetic embryopathy, Herpetic keratitis, Herrmann Opitz arthrogryposis syndrome, Herrmann Opitz craniosynostosis, Herrmann syndrome, Hersh Podruch Weisskopk syndrome, Heterochromia iridis, Heterotaxia autosomal dominant type, Heterotaxy with polysplenia or asplenia, Heterotaxy visceral X-linked, Hexokinase deficiency hemolytic anemia, HHV-6 encephalitis, Hidradenitis suppurativa familial, Hidradenocarcinoma, High-molecular-weight kininogen deficiency congenital, Hillig syndrome, Hing Torack Dowston syndrome, Hinson-Pepys disease, Hip luxation, Hip subluxation, Hipo syndrome, Hirschsprung disease ganglioneuroblastoma, Hirschsprung disease polydactyly heart disease, Hirschsprung disease type 2, Hirschsprung disease type 3, Hirschsprung disease type d brachydactyly, Hirschsprung microcephaly cleft palate, Hirschsprung nail hypoplasia dysmorphism, Hirschsprung's disease, Hirsutism skeletal dysplasia mental retardation, His bundle tachycardia, Histidinemia, Histidinuria renal tubular defect, Histiocytosis with joint contractures and sensorineural deafness, Histiocytosis Non-Langerhans-Cell, Hittner Hirsch Kreh syndrome, Hm syndrome, HMG CoA lyase deficiency, HMG CoA synthetase deficiency, Ho Kaufman Mcalister syndrome, Hodgkin disease X-linked pseudoautosomal, Hodgkin lymphoma, Hodgkin lymphoma childhood, Hodgkin lymphoma during pregnancy, Holmes Borden syndrome, Holmes Collins syndrome, Holoacardius amorphus, Holocarboxylase synthetase deficiency, Holoprosencephaly, Holoprosencephaly caudal dysgenesis, Holoprosencephaly deletion 2p, Holoprosencephaly ectrodactyly cleft lip palate, Holoprosencephaly radial heart renal anomalies, Holoprosencephaly recurrent infections and monocytosis, Holt-Oram syndrome, Holzgreve syndrome, Homocarnosinosis, Homocysteinemia, Homocysteinemia due to MTHFR deficiency, Homocystinuria, Homocystinuria due to CBS deficiency, Homocystinuria due to defect in methylation cbl e, Homocystinuria due to defect in methylation cbl g, Homologous wasting disease, Hooft disease, Hoon Hall syndrome, Hordnes Engebretsen Knudtson syndrome, Horn Kolb syndrome, Horner's syndrome, Hornova Dlurosova syndrome, Horseshoe kidney, Hortons disease, Houlston Ironton Temple syndrome, Howard Young syndrome, Howel-Evans syndrome, Hoyeraal Hreidarsson syndrome, Hoyeraal syndrome, HTLV-1 associated myelopathy/tropical spastic paraparesis, Human granulocytic ehrlichiosis, Human monocytic ehrlichiosis, Human parvovirus B19 infection, Human spumaretrovirus infection, Human T-cell leukemia virus type 1, Human T-cell leukemia virus type 2, Human T-cell leukemia virus type 3, Humeroradial synostosis, Humeroradioulnar synostosis, Hunter Carpenter Macdonald syndrome, Hunter Macpherson syndrome, Hunter Mcdonald syndrome, Hunter Rudd Hoffmann syndrome, Hunter-McAlpine syndrome, Huntington disease, Hurst Hallam Hockey syndrome, Hutchinson incisors, Hutterite cerebroosteonephrodysplasia syndrome, Hutteroth Spranger syndrome, Hyalinosis systemic short stature, Hydatidiform mole, Hydatidosis, Hyde Forster Mccarthy Berry syndrome, Hydranencephaly, Hydroa vacciniforme, Hydroa vacciniforme familial, Hydrocephalus, Hydrocephalus autosomal recessive, Hydrocephalus costovertebral dysplasia Sprengel anomaly, Hydrocephalus craniosynostosis bifid nose, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, Hydrocephalus endocardial fibroelastosis cataract, Hydrocephalus growth retardation skeletal anomalies, Hydrocephalus obesity hypogonadism, Hydrocephalus skeletal anomalies, Hydrocephaly corpus callosum agenesis diaphragmatic hernia, Hydrocephaly low insertion umbilicus, Hydrocephaly tall stature joint laxity, Hydrolethalus syndrome, Hydronephrosis peculiar facial expression, Hydrops ectrodactyly syndactyly, Hydrops fetalis, Hydrops fetalis anemia immune disorder absent thumb, Hydrops Ectopic calcification Moth-eaten skeletal dysplasia, Hydroxycarboxylic aciduria, Hydroxykynureninuria, Hydroxyprolinemia, Hygroma cervical, Hymenolepiasis, Hyper-IgD syndrome, Hyper-reninism, Hyperacusis, Hyperadrenalism, Hyperaldosteronism familial type 2, Hyperbetaalaninemia, Hyperbilirubinemia transient familial neonatal, Hyperbilirubinemia type 1, Hyperbilirubinemia type 2, Hypercalcinuria macular coloboma, Hypercementosis, Hyperekplexia hereditary, Hypereosinophilic syndrome, Hyperferritinemia cataract syndrome, Hyperglycerolemia, Hyperglycinemia isolated nonketotic, Hyperglycinemia isolated nonketotic type 1, Hyperglycinemia isolated nonketotic type 2, Hypergonadotropic ovarian failure familial or sporadic, Hyperimidodipeptiduria, Hyperinsulinemic hypoglycemia familial 2, Hyperinsulinemic hypoglycemia familial 3, Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, Hyperinsulinism diffuse, Hyperinsulinism focal, Hyperinsulinism-hyperammonemia syndrome, Hyperkalemic periodic paralysis, Hyperkeratosis lenticularis perstans, Hyperkeratosis palmoplantar localized acanthokeratolytic, Hyperkeratosis palmoplantar localized epidermolytic, Hyperlipoproteinemia type 1, Hyperlipoproteinemia type 2, Hyperlipoproteinemia type 3, Hyperlipoproteinemia type 4, Hyperlipoproteinemia type 5, Hyperlysinemia, Hypermanganesemia with dystonia polycythemia and cirrhosis, Hyperornithinemia, Hyperostosis cortical infantile, Hyperostosis corticalis generalisata, Hyperostosis corticalis generalisata benign form of Worth with torus palatinus, Hyperostosis-hyperphosphatemia syndrome, Hyperoxaluria, Hyperparathyroidism familial primary, Hyperparathyroidism neonatal severe primary, Hyperparathyroidism primary, Hyperparathyroidism-jaw tumor syndrome, Hyperphenilalaninemia due to pterin-4-alpha-carbin, Hyperphenylalaninemia due to dehydratase deficiency, Hyperpipecolatemia, Hyperprolinemia, Hyperprolinemia type 2, Hypersensitivity vasculitis, Hypertelorism and tetralogy of Fallot, Hypertensive hypokalemia familial, Hyperthermia induced defects, Hyperthyroidism due to mutations in TSH receptor, Hypertrichosis atrophic skin ectropion macrostomia, Hypertrichosis congenital generalized X-linked, Hypertrichosis lanuginosa congenita, Hypertrichosis lanuginosa acquired, Hypertrichosis anterior cervical, Hypertrichosis hyperkeratosis mental retardation and distinctive facial features, Hypertrichotic osteochondrodysplasia, Hypertrophic branchial myopathy, Hypertrophic hemangiectasia, Hypertrophic neuropathy of Dejerine-Sottas, Hypertrophic osteoarthropathy primary or idiopathic, Hypertryptophanemia, Hypnic headache, Hypoadrenalism, Hypoaldosteronism, Hypoalphalipoproteinemia primary, Hypobetalipoproteinaemia ataxia hearing loss, Hypobetalipoproteinemia familial, Hypocalcemia autosomal dominant, Hypochondroplasia, Hypocomplementemic urticarial vasculitis, Hypodermyasis, Hypodontia dysplasia of nails, Hypodontia of incisors and premolars, Hypodontia X-linked, Hypofibrinogenemia familial, Hypoglycemia with deficiency of glycogen synthetase in the liver, Hypogonadism cardiomyopathy, Hypogonadism male mental retardation skeletal anomaly, Hypogonadism mitral valve prolapse mental retardation, Hypogonadism primary partial alopecia, Hypogonadism retinitis pigmentosa, Hypogonadism alopecia diabetes mellitus mental retardation and extrapyramidal syndrome, Hypogonadism isolated hypogonadotropic, Hypogonadotropic hypogonadism without anosmia X-linked, Hypohidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia autosomal dominant, Hypohidrotic ectodermal dysplasia autosomal recessive, Hypohidrotic ectodermal dysplasia with immune deficiency, Hypokalemic periodic paralysis, Hypoketonemic hypoglycemia, Hypolipoproteinemia, Hypomagnesemia 2 renal, Hypomagnesemia primary, Hypomandibular faciocranial dysostosis, Hypomelanosis of Ito, Hypomelanotic disorder, Hypomelia mullerian duct anomalies, Hypoparathyroidism, Hypoparathyroidism familial isolated, Hypoparathyroidism retardation dysmorphism syndrome, Hypoparathyroidism short stature mental retardation, Hypoparathyroidism X-linked, Hypopharyngeal cancer, Hypophosphatasia, Hypophosphatasia childhood, Hypophosphatemic rickets, Hypopituitarism, Hypopituitarism micropenis cleft lip palate, Hypopituitarism postaxial polydactyly, Hypoplasia hepatic ductular, Hypoplasia of the tibia with polydactyly, Hypoplastic left heart syndrome, Hypoplastic right heart syndrome, Hypoplastic thumb mullerian aplasia, Hypoplastic thumbs hydranencephaly, Hyporeninemic hypoaldosteronism, Hyposmia nasal hypoplasia hypogonadism, Hypospadias familial, Hypospadias mental retardation Goldblatt type, Hypotelorism cleft palate hypospadias, Hypothalamic dysfunction, Hypothalamic hamartomas, Hypothyroidism due to iodide transport defect, Hypothyroidism postaxial polydactyly mental retardation, Hypotonia congenital nystagmus ataxia and abnormal auditory brainstem response, Hypotonic sclerotic muscular dystrophy, Hypotrichosis simplex, Hypoxanthine guanine phosphoribosyltransferase deficiency

Rare Diseases and Disorders - Starting With "I"

I cell disease, IBIDS syndrome, ICF syndrome, Ichthyosiform erythroderma corneal involvement deafness, Ichthyosiform erythroderma nonbullous congenital, Ichthyosis alopecia eclabion ectropion mental retardation, Ichthyosis and male hypogonadism, Ichthyosis bullosa of Siemens, Ichthyosis cheek eyebrow syndrome, Ichthyosis congenita biliary atresia, Ichthyosis deafness mental retardation skeletal anomaly, Ichthyosis follicularis atrichia photophobia syndrome, Ichthyosis hepatosplenomegaly cerebellar degeneration, Ichthyosis hystrix gravior, Ichthyosis hystrix Curth Macklin type, Ichthyosis lamellar 1, Ichthyosis lamellar 2, Ichthyosis lamellar 3, Ichthyosis lamellar autosomal dominant, Ichthyosis linearis circumflexa, Ichthyosis mental retardation dwarfism renal impairment, Ichthyosis prematurity syndrome, Ichthyosis tapered fingers midline groove up, Ichthyosis vulgaris, Ichthyosis with hypotrichosis autosomal recessive, Ichthyosis acquired, Ichthyosis erythrokeratolysis hemalis, Ichthyosis follicular, Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis, Ichthyosis mental retardation dwarfism and renal impairment, Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin, Idiopathic acute eosinophilic pneumonia, Idiopathic adolescent scoliosis, Idiopathic alveolar hypoventilation syndrome, Idiopathic basal ganglia calcification childhood-onset, Idiopathic diffuse interstitial fibrosis, Idiopathic dilatation of the pulmonary artery, Idiopathic dilated cardiomyopathy, Idiopathic double athetosis, Idiopathic eosinophilic chronic pneumopathy, Idiopathic juxtafoveal retinal telangiectasia, Idiopathic myopathy, Idiopathic pulmonary fibrosis, Idiopathic pulmonary hemosiderosis, Idiopathic pulmonary hypertension, Idiopathic subglottic tracheal stenosis, Idiopathic thrombocytopenic purpura, Iida Kannari syndrome, Illum syndrome, Imaizumi Kuroki syndrome, Imerslund-Grasbeck syndrome, Iminoglycinuria, Immotile cilia syndrome due to defective radial spokes, Immune defect due to absence of thymus, Immune deficiency familial variable, Immune dysfunction with T-cell inactivation due to calcium entry defect 1, Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Immune thrombocytopenia, Immunodeficiency with hyper IgM type 1, Immunodeficiency with hyper IgM type 2, Immunodeficiency with hyper IgM type 3, Immunodeficiency with hyper IgM type 4, Immunodeficiency with hyper IgM type 5, Immunodeficiency without anhidrotic ectodermal dysplasia, Immunodeficiency microcephaly with normal intelligence, Immunodysregulation polyendocrinopathy and enteropathy X-linked, Immunoglobulin A deficiency 2, Impairment of oral perception, Imperforate anus, Imperforate oropharynx costo vetebral anomalies, Impossible syndrome, Inborn amino acid metabolism disorder, Inborn renal aminoaciduria, Inclusion body myopathy 2, Inclusion body myopathy 3, Inclusion body myositis, Inclusion conjunctivitis, Incontinentia pigmenti, Indolent B cell lymphoma, Indomethacin antenatal infection, Infant epilepsy with migrant focal crisis, Infantile apnea, Infantile axonal neuropathy, Infantile convulsions and paroxysmal choreoathetosis familial, Infantile digital fibromatosis, Infantile histiocytoid cardiomyopathy, Infantile multisystem inflammatory disease, Infantile myofibromatosis, Infantile onset spinocerebellar ataxia, Infantile Parkinsonism-dystonia, Infantile recurrent chronic multifocal osteomyolitis, Infantile scoliosis, Infantile sialic acid storage disorder, Infantile spasms broad thumbs, Infantile striato thalamic degeneration, Infantile-onset ascending hereditary spastic paralysis, Infectious arthritis, Infectious myocarditis, Infective endocarditis, Infective myositis, Inflammatory breast cancer, Inflammatory linear verrucous epidermal nevus, Inflammatory myofibroblastic tumor, Infundibulopelvic dysgenesis, Inherited hypoprothrombinemia, Inherited peripheral neuropathy, Iniencephaly, Insensitivity to pain congenital with anhidrosis, Insulin autoimmune syndrome, Insulin-like growth factor 1 resistance to, Insulin-like growth factor I deficiency, Insulin-resistance type B, Insulin-resistant acanthosis nigricans type A, Insulinoma, Intellectual deficit Buenos-Aires type, Intercellular cholesterol esterification disease, Interferon gamma receptor 1 deficiency, Internal carotid agenesis, Intervertebral disc disease, Intestinal atresia multiple, Intestinal pseudo-obstruction, Intestinal pseudoobstruction neuronal chronic idiopathic X-linked, Intracranial aneurysms multiple congenital anomaly, Intracranial arteriovenous malformation, Intractable hiccups, Intrahepatic cholangiocarcinoma, Intraocular melanoma, Intrathoracic kidney vertebral fusion, Intrauterine growth retardation mandibular malar hypoplasia, Intrauterine growth retardation with increased mitomycin C sensitivity, Intrauterine infections, Intravascular papillary endothelial hyperplasia, Intravenous leiomyomatosis, Intrinsic factor congenital deficiency of, Iodine antenatal infection, IRAK4 deficiency, Iridocorneal endothelial syndrome, Iridogoniodysgenesis and skeletal anomalies, Iridogoniodysgenesis type1, Iridogoniodysgenesis dominant type, Iris coloboma with ptosis hypertelorism and mental retardation, Iris dysplasia hypertelorism deafness, Iris hypoplasia and glaucoma, Irons Bhan syndrome, Isaac's syndrome, Ischiadic hypoplasia renal dysfunction immunodeficiency, Ischiopatellar dysplasia, Isobutyryl-CoA dehydrogenase deficiency, Isolated growth hormone deficiency type 1A, Isolated growth hormone deficiency type 1B, Isolated growth hormone deficiency type 2, Isolated growth hormone deficiency type 3, Isosporiasis, Isotretinoin embryopathy like syndrome, Isovaleric acidemia, Isthmian coarctation, ITCH E3 ubiquitin ligase deficiency, Ivemark syndrome, IVIC syndrome

Rare Diseases and Disorders - Starting With "J"

Jackson-Weiss syndrome, Jacobsen syndrome, Jaffer Beighton syndrome, Jamaican vomiting sickness, Jankovic Rivera syndrome, Jansen type metaphyseal chondrodysplasia, Japanese encephalitis, Jejunal atresia, Jejunal atresia with renal adysplasia, Jensen syndrome, Jervell and Lange-Nielsen syndrome 2, Jervell Lange-Nielsen syndrome, Jeune syndrome, Jeune syndrome situs inversus, Johanson Blizzard syndrome, Johnson Hall Krous syndrome, Johnson Munson syndrome, Johnson neuroectodermal syndrome, Johnston Aarons Schelley syndrome, Joint laxity familial, Jones Hersh Yusk syndrome, Jones syndrome, Jorgenson Lenz syndrome, Joubert syndrome, Joubert syndrome 2, Joubert syndrome with ocular anomalies, Joubert syndrome with oculorenal anomalies, Joubert syndrome with renal anomalies, Juberg Hayward syndrome, Juberg Marsidi syndrome, Judge Misch Wright syndrome, Jumping Frenchmen of Maine, Junctional epidermolysis bullosa, Junctional epidermolysis bullosa inversa, Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa Herlitz type, Junctional epidermolysis bullosa non-Herlitz type, Jung Wolff Back Stahl syndrome, Juvenile dermatomyositis, Juvenile gout, Juvenile Huntington disease, Juvenile macular degeneration and hypotrichosis, Juvenile myelomonocytic leukemia, Juvenile myoclonic epilepsy, Juvenile osteoporosis, Juvenile polyposis syndrome, Juvenile primary lateral sclerosis, Juvenile retinoschisis, Juvenile Scleroderma, Juvenile temporal arteritis, Juvenile-onset dystonia

Rare Diseases and Disorders - Starting With "K"

Kabuki syndrome, Kallikrein hypertension, Kallmann syndrome, Kallmann syndrome 1, Kallmann syndrome 2, Kallmann syndrome 3, Kallmann syndrome 4, Kallmann syndrome 5, Kallmann syndrome 6, Kanzaki disease, Kaolin pneumoconiosis, Kaplan Plauchu Fitch syndrome, Kaplowitz Bodurtha syndrome, Kaposiform Hemangioendothelioma, Kapur Toriello syndrome, Karak syndrome, Karandikar Maria Kamble syndrome, Kartagener syndrome, Kashani Strom Utley syndrome, Kasznica Carlson Coppedge syndrome, Katsantoni Papadakou Lagoyanni syndrome, Kaufman oculocerebrofacial syndrome, Kawasaki syndrome, KBG syndrome, Kearns Sayre syndrome, Kennerknecht Vogel syndrome, Kenny-Caffey syndrome type 1, Kenny-Caffey syndrome type 2, Keratitis hereditary, Keratoconus, Keratoconus posticus circumscriptus, Keratoderma palmoplantar deafness, Keratoderma palmoplantar spastic paralysis, Keratoderma palmoplantaris transgrediens, Keratolytic winter erythema, Keratomalacia, Keratosis focal palmoplantar gingival, Keratosis follicularis dwarfism and cerebral atrophy, Keratosis follicularis spinulosa decalvans, Keratosis palmoplantaris adenocarcinoma of the colon, Keratosis palmoplantaris papulosa, Keratosis palmoplantaris striata 1, Keratosis palmoplantaris striata 3, Keratosis seborrheic, Kerion celsi, Kernicterus, Keshan disease, Keutel syndrome, KID syndrome, Kidney cancer, Kidney cancer childhood, Kienbock's disease, Kifafa seizure disorder, Kikuchi disease, Kimura disease, Kindler syndrome, King Denborough syndrome, Kingella infections, Klatskin tumor, Klebsiella, Kleeblattschaedel syndrome, Kleefstra syndrome, Kleine Levin syndrome, Kleiner Holmes syndrome, Klinefelter syndrome, Klinefelter syndrome variants, Klippel Feil syndrome, Klippel Trenaunay syndrome, Klumpke paralysis, Kluver Bucy syndrome, Kniest dysplasia, Kniest like dysplasia lethal, Kniest-like dysplasia with pursed lips and ectopia lentis, Knobloch syndrome, Knuckle pads leuconychia and sensorineural deafness, Kocher-Debre-Semelaigne syndrome, Kohler disease, Kohlschutter Tonz syndrome, Konigsmark Knox Hussels syndrome, Koone Rizzo Elias syndrome, Kosztolanyi syndrome, Kotzot-Richter syndrome, Kousseff Nichols syndrome, Kowarski syndrome, Kozlowski Brown Hardwick syndrome, Kozlowski Celermajer Tink syndrome, Kozlowski Ouvrier syndrome, Kozlowski Rafinski Klicharska syndrome, Kozlowski Warren Fisher syndrome, Kozlowski-Krajewska syndrome, Krabbe disease atypical due to Saposin A deficiency, Krabbe leukodystrophy, Krasnow Qazi syndrome, Krauss Herman Holmes syndrome, Krieble Bixler syndrome, Krukenberg carcinoma, KSHV inflammatory cytokine syndrome, Kurczynski Casperson syndrome, Kuru, Kuskokwim disease, Kuster Majewski Hammerstein syndrome, Kuster syndrome, Kyasanur Forest disease, Kyphomelic dysplasia, Kyphosis brachyphalangy optic atrophy, Kyrle disease

Rare Diseases and Disorders - Starting With "L"

L-2-hydroxyglutaric aciduria, Laband syndrome, Labrador lung, Lachiewicz Sibley syndrome, Lacrimo-auriculo-dento-digital syndrome, Lactate dehydrogenase deficiency, Lactate dehydrogenase deficiency type A, Lactate dehydrogenase deficiency type B, Lactate dehydrogenase deficiency type C, Lactic acidosis congenital infantile, Ladda Zonana Ramer syndrome, Lafora disease, Lagophthalmia cleft lip palate, Laing distal myopathy, Lambdoid synostosis, Lambert Eaton myasthenic syndrome, Lambert syndrome, Lamellar ichthyosis, Landau-Kleffner syndrome, Landy Donnai syndrome, Langer mesomelic dysplasia, Langer Nishino Yamaguchi syndrome, Langerhans cell histiocytosis, Langerhans cell sarcoma, Laparoschisis, Laplane Fontaine Lagardere syndrome, Large B cell diffuse lymphoma, Large granular lymphocyte leukemia, Laron syndrome, Larsen syndrome, Larsen syndrome dominant type, Larsen syndrome recessive type, Larsen-like syndrome, Laryngeal abductor paralysis mental retardation, Laryngeal cancer, Laryngeal cancer childhood, Laryngeal cleft, Laryngeal papillomatosis, Laryngocele, Laryngomalacia, Laryngoonychocutaneous syndrome, Larynx atresia, Larynx congenital partial atresia of, Lassueur-Graham-Little syndrome, Late acute graft versus host disease, Late-onset congenital adrenal hyperplasia, Lateral body wall defect, Lateral meningocele syndrome, Lateral semicircular canal malformation familial with external and middle ear abnormalities, Laterality defects dominant, Lathosterolosis, Lathyrism, Lattice corneal dystrophy type 1, Lattice corneal dystrophy type 3A, Laugier-Hunziker syndrome, Launois-Bensaude adenolipomatosis, Laurence Prosser Rocker syndrome, Laurin-Sandrow syndrome, LCAD deficiency, LCHAD deficiency, Le Marec Bracq Picaud syndrome, Leber congenital amaurosis, Leber congenital amaurosis type 1, Leber congenital amaurosis type 10, Leber congenital amaurosis type 11, Leber congenital amaurosis type 12, Leber congenital amaurosis type 2, Leber congenital amaurosis type 3, Leber congenital amaurosis type 4, Leber congenital amaurosis type 5, Leber congenital amaurosis type 6, Leber congenital amaurosis type 9, Leber hereditary optic neuropathy, Leber hereditary optic neuropathy with dystonia, Leber miliary aneurysm, Ledderhose disease, Left-sided gallbladder, Leg absence deformity cataract, Legg-Calve-Perthes disease, Legionellosis, Legius syndrome, Lehman syndrome, Leichtman Wood Rohn syndrome, Leigh syndrome, Leigh syndrome French Canadian type, Leiner disease, Leiomyoma of vulva and esophagus, Leiomyomatosis and renal cell cancer hereditary, Leiomyomatosis familial, Leiomyomatosis of esophagus cataract and hematuria, Leiomyomatosis esophageal and vulval with nephropathy, Leiomyosarcoma, Leishmaniasis, Leisti Hollister Rimoin syndrome, Lelis syndrome, Lemierre syndrome, Lenegre disease, Lentigo maligna melanoma, Lenz Majewski hyperostotic dwarfism, Lenz microphthalmia syndrome, LEOPARD syndrome, Leprechaunism, Leptospirosis, Leri pleonosteosis, Leri Weill dyschondrosteosis, Lesch Nyhan syndrome, Lethal chondrodysplasia Moerman type, Lethal chondrodysplasia Seller type, Lethal congenital contracture syndrome 1, Lethal congenital contracture syndrome 2, Lethal short limb skeletal dysplasia Al Gazali type, Leucine-sensitive hypoglycemia of infancy, Leucocyte adhesion defect, Leukemia subleukemic, Leukemia B-cell chronic, Leukemia Myeloid, Leukemia T-cell chronic, Leukocyte adhesion deficiency type 1, Leukodystrophy, Leukodystrophy reunion type, Leukodystrophy with oligodontia, Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia, Leukodystrophy hypomyelinating 3, Leukodystrophy psuedometachromatic, Leukoencephalopathy palmoplantar keratoderma, Leukoencephalopathy with vanishing white matter, Leukoencephalopathy arthritis colitis and hypogammaglobulinema, Leukoencephalopathy cerebral calcifications and cysts, Leukomalacia, Leukomelanoderma mental redardation hypotrichosis, Leukonychia totalis, Leukoplakia, Levator syndrome, Levic Stefanovic Nikolic syndrome, Levotransposition of the great arteries, Levy-Yeboa syndrome, Lewy body dementia, Leydig cells hypoplasia, Lhermitte-Duclos disease, Li Fraumeni syndrome, Lichen planus follicularis, Lichen planus pigmentosus, Lichen sclerosis, Lichtenstein syndrome, Light chain deposition disease, Limb deficiencies distal with micrognathia, Limb dystonia, Limb reduction defect, Limb scalp and skull defects, Limb transversal defect cardiac anomaly, Limb-body wall complex, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy autosomal dominant, Limb-girdle muscular dystrophy type 2H, Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency, Limb-girdle muscular dystrophy type 1A, Limb-girdle muscular dystrophy type 1B, Limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy type 2B, Limb-girdle muscular dystrophy type 2C, Limb-girdle muscular dystrophy type 2D, Limb-girdle muscular dystrophy type 2E, Limb-girdle muscular dystrophy type 2F, Limb-girdle muscular dystrophy type 2G, Limb-mammary syndrome, Limbic encephalitis, Lindsay Burn syndrome, Linear hamartoma syndrome, Linear nevus sebaceous syndrome, Linear porokeratosis, Linear scleroderma (subtype), Lip and oral cavity cancer, Lipase deficiency combined, Lipid storage myopathy, Lipidosis with triglycerid storage disease, Lipoamide dehydrogenase deficiency, Lipoatrophy with diabetes hepatic steatosis cardiomyopathy and leukomelanodermic papules, Lipodermatosclerosis, Lipodystrophy, Lipodystrophy familial partial type 2, Lipogranulomatosis, Lipoid proteinosis of Urbach and Wiethe, Lipomatosis familial benign cervical, Lipomyelomeningocele, Liposarcoma, Lissencephaly 1, Lissencephaly 2, Lissencephaly syndrome type 1, Lissencephaly X-linked, Lissencephaly isolated, Listeria infection, Littoral cell angioma of the spleen, Liver cancer, Liver failure acute infantile, Localized epiphyseal dysplasia, Localized scleroderma, Locked-in syndrome, Lockwood Feingold syndrome, Loeys-Dietz syndrome, Loeys-Dietz syndrome type 1A, Loeys-Dietz syndrome type 1B, Loeys-Dietz syndrome type 2A, Loeys-Dietz syndrome type 2B, Logopenic progressive aphasia, Loiasis, Loin pain hematuria syndrome, Long QT syndrome 1, Long QT syndrome 10, Long QT syndrome 11, Long QT syndrome 2, Long QT syndrome 3, Long QT syndrome 4, Long QT syndrome 5, Long QT syndrome 6, Long QT syndrome 8, Long QT syndrome 9, Loose anagen hair syndrome, Lopes Gorlin syndrome, Lowe oculocerebrorenal syndrome, Lower mesodermal defects sequence, Lowry Maclean syndrome, Lowry Wood syndrome, Lubani Al Saleh Teebi syndrome, Lubinsky syndrome, Lubs X-linked mental retardation syndrome, Lucey-Driscoll syndrome, Lujan Fryns syndrome, Lumbar malsegmentation short stature, Lung agenesis, Lupus nephritis, Lutz Richner Landolt syndrome, Lymph node neoplasm, Lymphangiectasis, Lymphangioleiomyomatosis, Lymphangioma, Lymphatic filariasis, Lymphatic neoplasm, Lymphedema and cerebral arteriovenous anomaly, Lymphedema microcephaly and chorioretinopathy syndrome, Lymphedema congenital, Lymphedema-distichiasis syndrome, Lymphoblastic lymphoma, Lymphocytes absent, Lymphocytic colitis, Lymphocytic hypophysitis, Lymphocytic infiltrate of Jessner, Lymphocytic vasculitis, Lymphogranuloma venereum, Lymphoma AIDSrelated, Lymphoma gastric non Hodgkins type, Lymphoma large-cell, Lymphoma large-cell immunoblastic, Lymphoma small cleaved-cell diffuse, Lymphoma small cleaved-cell follicular, Lymphomatoid granulomatosis, Lymphomatoid papulosis, Lymphomatous thyroiditis, Lymphoproliferative syndrome X-linked 1, Lymphosarcoma, Lynch Lee Murday syndrome, Lynch syndrome, Lysinuric protein intolerance, Lysteria monocytoigeneses meningitis

Rare Diseases and Disorders - Starting With "M"

Mac Dermot Winter syndrome, Macrocephaly mesodermal hamartoma spectrum, Macrocephaly benign familial, Macrocephaly mental retardation short stature spastic paraplegia and CNS malformations, Macrocephaly-capillary malformation, Macrodactyly of the foot, Macrodactyly of the hand, Macroepiphyseal dysplasia with osteoporosis wrinkled skin and aged appearance, Macroglossia, Macrogyria pseudobulbar palsy and mental retardation, Macrophagic myofasciitis, Macrosomia with lethal microphthalmia, Macrothrombocytopenia progressive deafness, Macular dystrophy atypical vitelliform, Macular dystrophy concentric annular, Macular dystrophy corneal type 1, Macules hereditary congenital hypopigmented and hyperpigmented, Madelung disease, Madokoro Ohdo Sonoda syndrome, Maffucci syndrome, Mahvash disease, Majeed syndrome, Mal de debarquement, Malakoplakia, Malaria, Male pseudohermaphroditism due to defective LH molecule, Male pseudohermaphroditism/mental retardation syndrome Verloes type, Malignant cylindroma, Malignant eccrine spiradenoma, Malignant fibrous histiocytoma, Malignant germ cell tumor, Malignant hyperthermia, Malignant hyperthermia arthrogryposis torticollis, Malignant hyperthermia susceptibility type 1, Malignant hyperthermia susceptibility type 2, Malignant hyperthermia susceptibility type 3, Malignant hyperthermia susceptibility type 4, Malignant hyperthermia susceptibility type 5, Malignant hyperthermia susceptibility type 6, Malignant melanoma childhood, Malignant mesenchymal tumor, Malignant mesothelioma, Malignant mixed Mullerian tumor, Malignant paroxysmal ventricular tachycardia, Malignant Teratocarcinosarcoma, Mallory-Weiss syndrome, Malonyl-CoA decarboxylase deficiency, Malouf syndrome, Malpuech facial clefting syndrome, Mandibuloacral dysplasia with type A lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy, Mandibulofacial dysostosis Treacher Collins type autosomal recessive, Mannosidosis beta A lysosomal, Manouvrier syndrome, Mansonelliasis, Mantle cell lymphoma, Manz syndrome, Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease type 1B, Maple syrup urine disease type 2, Marburg hemorrhagic fever, Marchiafava Bignami disease, Marcus Gunn phenomenon, Marden Walker like syndrome, Marden-Walker syndrome, Marek disease, Marfan syndrome, Marfan Syndrome type 2, Marfan Syndrome type 3, Marfan Syndrome type 4, Marfan Syndrome type 5, Marfanoid hypermobility syndrome, Marfanoid mental retardation syndrome autosomal, Marginal glioneuronal heterotopia, Marie type ataxia, Marie Unna congenital hypotrichosis, Marinesco-Sjogren syndrome, Marinesco-Sjogren-like syndrome (MSLS), Markel Vikkula Mulliken syndrome, Marles Greenberg Persaud syndrome, Maroteaux Fonfria syndrome, Maroteaux Stanescu Cousin syndrome, Maroteaux Verloes Stanescu syndrome, Marphanoid syndrome type De Silva, Marsden Nyhan Sakati syndrome, Marshall syndrome, Marshall-Smith syndrome, Martinez Monasterio Pinheiro syndrome, Martsolf syndrome, MASS syndrome, Massa Casaer Ceulemans syndrome, Mastocytic enterocolitis, Mastocytosis, Mastocytosis cutaneous with short stature conductive hearing loss and microtia, Mastroiacovo De Rosa Satta syndrome, Mastroiacovo Gambi Segni syndrome, Maternal hyperphenylalaninemia, Maternally inherited Leigh syndrome, Mathieu De Broca Bony syndrome, Matsoukas Liarikos Giannika syndrome, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 5, Maturity-onset diabetes of the young type 6, Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 9, Maumenee syndrome, Maxillary double lip, Maxillofacial dysostosis, Maxillonasal dysplasia Binder type, Mayer-Rokitansky-Kuster-Hauser syndrome, McAlister Crane syndrome, McCallum Macadam Johnston syndrome, McCune Albright syndrome, McDonough syndrome, McDowall syndrome, McGillivray syndrome, McKusick Kaufman syndrome, McLeod neuroacanthocytosis syndrome, McPherson Clemens syndrome, McPherson Robertson Cammarano syndrome, Meacham Winn Culler syndrome, Meadows syndrome, Measles, Meckel syndrome type 2, Meckel syndrome type 3, Meckel syndrome type1, Meconium aspiration syndrome, Medeira Dennis Donnai syndrome, Medial Medullary Syndrome, Median cleft of upper lip with polyps of facial skin and nasal mucosa, Median nodule of the upper lip, Mediastinal endodermal sinus tumors, Medium-chain 3-ketoacyl-coa thiolase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medrano Roldan syndrome, Medullary cystic kidney disease, Medullary cystic kidney disease 1, Medullary cystic kidney disease 2, Medullary sponge kidney, Medulloblastoma, Medulloblastoma childhood, Meesmann corneal dystrophy, Megacystis microcolon intestinal hypoperistalsis syndrome, Megaduodenum and/or megacystis, Megaepiphyseal dwarfism, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephaly polymicrogyria and hydrocephalus (MPPH) syndrome, Megalocornea mental retardation syndrome, Megalocytic interstitial nephritis, Megarbane Jalkh syndrome, Megarbane syndrome, Mehes syndrome, Mehta Lewis Patton syndrome, Meier Blumberg Imahorn syndrome, Meier-Gorlin syndrome, Meige syndrome, Meigel disease, Meinecke syndrome, Melanocytic lesions of CNS, Melanoma astrocytoma syndrome, Melanoma familial, Meleda disease, Melhem Fahl syndrome, Meliodosis, Melkersson-Rosenthal syndrome, Melnick-Needles syndrome, Melorheostosis, Membranoproliferative glomerulonephritis type 2, Membranous nephropathy, Menetrier disease, Mengel Konigsmark syndrome, Meningioma, Meningioma spinal, Meningocele, Meningococcal infection, Meningococcemia, Meningoencephalocele, Menkes disease, Mental deficiency-epilepsy-endocrine disorders, Mental retardation anophthalmia craniosynostosis, Mental retardation arachnodactyly hypotonia telangiectasia, Mental retardation athetosis microphthalmia, Mental retardation blepharophimosis obesity web neck, Mental retardation cataracts calcified pinnae myopathy, Mental retardation coloboma slimness, Mental retardation dysmorphism hypogonadism diabetes, Mental retardation epilepsy, Mental retardation epilepsy bulbous nose, Mental retardation gynecomastia obesity X-linked, Mental retardation hip luxation G6PD variant, Mental retardation hypocupremia hypobetalipoproteinemia, Mental retardation hypotonia skin hyperpigmentation, Mental retardation macrocephaly coarse facies hypotonia, Mental retardation microcephaly phalangeal facial, Mental retardation microcephaly unusual facies, Mental retardation Mietens Weber type, Mental retardation progressive spasticity, Mental retardation psychosis macroorchidism, Mental retardation short stature Bombay phenotype, Mental retardation short stature cleft palate unusual facies, Mental retardation short stature deafness genital, Mental retardation short stature hand contractures genital anomalies, Mental retardation short stature heart and skeletal anomalies, Mental retardation short stature hypertelorism, Mental retardation short stature microcephaly eye, Mental retardation short stature ocular and articular anomalies, Mental retardation short stature scoliosis, Mental retardation short stature unusual facies, Mental retardation skeletal dysplasia abducens palsy, Mental retardation Smith Fineman Myers type, Mental retardation spasticity ectrodactyly, Mental retardation syndrome Belgian type, Mental retardation unusual facies, Mental retardation unusual facies talipes hand anomalies, Mental retardation Wolff type, Mental retardation X-linked borderline Maoa metabolism anomaly, Mental retardation X-linked Brunner type, Mental retardation X-linked dysmorphism, Mental retardation X-linked dystonia dysarthria, Mental retardation X-linked short stature obesity, Mental retardation X-linked syndromic 11, Mental retardation X-linked syndromic 7, Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance, Mental retardation X-linked South African type, Mental retardation epileptic seizures hypogonadism and hypogenitalism microcephaly and obesity, Mental retardation keratoconus febrile seizures and sinoatrial block, Mental retardation macrocephaly short stature and craniofacial dysmorphism, Mental retardation X-linked 14, Mental retardation X-linked nonspecific, Mental retardation-hypotonic facies syndrome X-linked 1, Mental retardation-polydactyly-uncombable hair, Meralgia paresthetica, Mercury poisoning, Meretoja syndrome, Merkel cell carcinoma, Merlob Grunebaum Reisner syndrome, Merlob syndrome, Mesangial proliferative glomerulonephritis, Mesangial sclerosis diffuse, Mesenteric artery ischemia, Mesomelia, Mesomelia-synostoses syndrome, Mesomelic dwarfism cleft palate camptodactyly, Mesomelic dwarfism of hypoplastic tibia and radius type, Mesomelic dysplasia Kantaputra type, Mesomelic dysplasia Savarirayan type, Mesomelic dysplasia skin dimples, Mesomelic syndrome Pfeiffer type, Metacarpals 4 and 5 fusion, Metachondromatosis, Metachromatic leukodystrophy MLD, Metachromatic leukodystrophy due to saposin B deficiency, Metagonimiasis, Metaphyseal acroscyphodysplasia, Metaphyseal anadysplasia, Metaphyseal chondrodysplasia Schmid type, Metaphyseal chondrodysplasia Spahr type, Metaphyseal chondrodysplasia with cone-shaped epiphyses normal hair and normal hands, Metaphyseal chondrodysplasia others, Metaphyseal dysostosis mental retardation conductive deafness, Metaphyseal dysplasia maxillary hypoplasia brachydactyly, Metaphyseal dysplasia without hypotrichosis, Metaphyseal undermodeling spondylar dysplasia and overgrowth, Metaplastic carcinoma of the breast, Metastatic insulinoma, Metastatic squamous neck cancer with occult primary, Metatropic dwarfism, Methimazole antenatal infection, Methionine adenosyltransferase deficiency, Methyl mercury antenatal infection, Methylcobalamin deficiency cbl G type, Methylcobalamin deficiency cbl E complementation type, Methylmalonic acidemia, Methylmalonic acidemia with homocystinuria, Methylmalonic aciduria cblA type, Methylmalonic aciduria cblB type, Methylmalonic aciduria microcephaly cataract, Methylmalonicacidemia with homocystinuria cbl d, Methylmalonicaciduria with homocystinuria cbl f, Methylmalonyl-Coenzyme A mutase deficiency, Mevalonic aciduria, MHC class 1 deficiency, Michelin tire baby syndrome, Michels Caskey syndrome, Michels syndrome, Mickleson syndrome, Micrencephaly corpus callosum agenesis, Microbrachycephaly ptosis cleft lip, Microcephalic osteodysplastic primordial dwarfism type 1, Microcephalic osteodysplastic primordial dwarfism type 2, Microcephalic osteodysplastic primordial dwarfism type 3, Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities, Microcephalic primordial dwarfism Toriello type, Microcephaly, Microcephaly albinism digital anomalies syndrome, Microcephaly autosomal dominant, Microcephaly brachydactyly kyphoscoliosis, Microcephaly brain defect spasticity hypernatremia, Microcephaly cardiac defect lung malsegmentation, Microcephaly cardiomyopathy, Microcephaly cervical spine fusion anomalies, Microcephaly chorioretinopathy recessive form, Microcephaly deafness syndrome, Microcephaly developmental delay pancytopenia, Microcephaly glomerulonephritis Marfanoid habitus, Microcephaly hypergonadotropic hypogonadism short stature, Microcephaly immunodeficiency lymphoreticuloma, Microcephaly mental retardation retinopathy, Microcephaly mental retardation spasticity epilepsy, Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome, Microcephaly microcornea syndrome Seemanova type, Microcephaly micropenis convulsions, Microcephaly microphthalmos blindness, Microcephaly nonsyndromal, Microcephaly pontocerebellar hypoplasia dyskinesia, Microcephaly seizures mental retardation heart disorders, Microcephaly sparse hair mental retardation seizures, Microcephaly with chorioretinopathy autosomal dominant form, Microcephaly with normal intelligence immunodeficiency, Microcephaly with spastic quadriplegia, Microcephaly corpus callosum dysgenesis and cleft lip-palate, Microcephaly hiatal hernia and nephrotic syndrome, Microcephaly holoprosencephaly and intrauterine growth retardation, Microcephaly primary autosomal recessive, Microcoria congenital, Microcornea corectopia macular hypoplasia, Microcornea glaucoma and absent frontal sinuses, Microcystic adnexal carcinoma, Microdeletion 15q11.2, Microdontia hypodontia short stature, Microencephaly, Microgastria limb reduction defect, Microhydranencephaly, Micromelic bone dysplasia with cloverleaf skull, Microphthalmia associated with colobomatous cyst, Microphthalmia camptodactyly mental retardation, Microphthalmia cataract, Microphthalmia diaphragmatic hernia Fallot, Microphthalmia mental deficiency, Microphthalmia microtia fetal akinesia, Microphthalmia syndromic 10, Microphthalmia syndromic 3, Microphthalmia syndromic 4, Microphthalmia syndromic 5, Microphthalmia syndromic 6, Microphthalmia syndromic 7, Microphthalmia syndromic 8, Microphthalmia syndromic 9, Microphthalmia isolated with corectopia, Microscopic polyangiitis, Microsomia hemifacial radial defects, Microspherophakia with hernia, Microsporidiosis, Microtia eye coloboma and imperforation of the nasolacrimal duct, Microtia meatal atresia and conductive deafness, Microtia-Anotia, Microvillus inclusion disease, Midline cleft of lower lip, Midline developmental field defects, Midline field defects, Midline lethal granuloma, Midphalangeal hair, Mikulicz disease, Miles-Carpenter x-linked mental retardation syndrome, Miller Fisher syndrome, Miller-Dieker syndrome, Milner Khallouf Gibson syndrome, Milroy disease, Minicore myopathy with external ophthalmoplegia, Minicore myopathy antenatal onset with arthrogryposis, Minimal change disease, Mirizzi syndrome, Mirror polydactyly segmentation and limbs defects, Mitochondrial complex I deficiency, Mitochondrial complex II deficiency, Mitochondrial complex III deficiency, Mitochondrial complex IV deficiency, Mitochondrial complex V deficiency, Mitochondrial disease with severe hypotonia lactic acidaemia and hyperammonemia, Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, Mitochondrial genetic disorders, Mitochondrial myopathy with diabetes, Mitochondrial myopathy with lactic acidosis, Mitochondrial neurogastrointestinal encephalopathy syndrome, Mitochondrial trifunctional protein deficiency, Mitral atresia, Mitral regurgitation deafness skeletal anomalies, Mitral valve prolapse familial autosomal dominant, Mitral valve prolapse familial X-linked, Miura syndrome, Mixed connective tissue disease, Mixed sclerosing bone dystrophy, Miyoshi myopathy, Moebius axonal neuropathy hypogonadism, Moebius syndrome, Mohr-Tranebjaerg syndrome, Moloney syndrome, Molybdenum cofactor deficiency, MOMO syndrome, Mondini Dysplasia, Mondor's disease, Monilethrix, Monkeypox, Monoamine oxidase A deficiency, Monoclonal gammopathy of undetermined significance, Monodactyly tetramelic, Monomelic amyotrophy, Mononeuritis multiplex, Montefiore syndrome, Morel's ear, Morgagni-Stewart-Morel syndrome, Morgellons, Morillo-Cucci Passarge syndrome, MORM syndrome, Morphea, Morquio syndrome A, Morquio syndrome B, Morquio syndrome C, Morse Rawnsley Sargent syndrome, Morvan's fibrillary chorea, Mosaic trisomy 8, Mosaic trisomy 9, Mosaic variegated aneuploidy syndrome, Motor neuro-ophthalmic disorders, Motor neuropathy peripheral with dysautonomia, Motor sensory neuropathy type 1 aplasia cutis congenita, Mounier-Kuhn syndrome, Mousa Al din Al Nassar syndrome, Mowat-Wilson syndrome, Moyamoya disease, MSBD syndrome, Muckle-Wells syndrome, Mucoepidermoid carcinoma, Mucolipidosis type 3A, Mucolipidosis type 4, Mucopolysaccharidosis, Mucopolysaccharidosis type I, Mucopolysaccharidosis type II, Mucopolysaccharidosis type III, Mucopolysaccharidosis type IIIA, Mucopolysaccharidosis type IIIB, Mucopolysaccharidosis type IIIC, Mucopolysaccharidosis type IIID, Mucopolysaccharidosis type VI, Mucopolysaccharidosis type VII, Muenke Syndrome, Muir-Torre syndrome, Mulibrey Nanism, Muller Barth Menger syndrome, Mullerian agenesis, Mullerian aplasia, Mullerian derivatives persistent, Mullerian duct abnormalities galactosemia, Mulliez Roux Loterman syndrome, Multicentric Castleman's Disease, Multicentric osteolysis nephropathy, Multicentric reticulohistiocytosis, Multicore disease, Multicystic renal dysplasia bilateral, Multifocal choroiditis, Multifocal fibrosclerosis, Multifocal heterotopia, Multifocal lymphangioendotheliomatosis with thrombocytopenia, Multifocal motor neuropathy with conduction block, Multifocal ventricular premature beats, Multinodular goiter cystic kidney polydactyly, Multiple carboxylase deficiency biotin responsive, Multiple carboxylase deficiency late onset, Multiple carboxylase deficiency propionic acidemia, Multiple congenital anomalies mental retardation growth failure and cleft lip palate, Multiple congenital contractures, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia 1, Multiple epiphyseal dysplasia 2, Multiple epiphyseal dysplasia 3, Multiple epiphyseal dysplasia 4, Multiple epiphyseal dysplasia 5, Multiple fibrofolliculoma familial, Multiple joint dislocations metaphyseal dysplasia, Multiple myeloma, Multiple pterygium syndrome Aslan type, Multiple pterygium syndrome Escobar type, Multiple pterygium syndrome lethal type, Multiple pterygium syndrome X-linked, Multiple respiratory chain enzyme deficiencies, Multiple self healing squamous epithelioma, Multiple sulfatase deficiency, Multiple synostoses syndrome 1, Multiple synostoses syndrome 2, Multiple system atrophy, Multiple system atrophy (MSA) with orthostatic hypotension, Multiple vertebral anomalies unusual facies, Mumps, Munchausen by proxy syndrome, Mungan syndrome, MURCS association, Muscle eye brain disease, Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus, Muscular dystrophy, Muscular Dystrophy - Late Onset, Muscular dystrophy congenital merosin negative, Muscular dystrophy limb girdle type 2A Erb type, Muscular dystrophy white matter spongiosis, Muscular dystrophy congenital infantile with cataract and hypogonadism, Muscular dystrophy congenital megaconial type, Muscular dystrophy congenital merosin-positive, Muscular fibrosis multifocal obstructed vessels, Muscular phosphorylase kinase deficiency, Mutagen sensitivity, Mutiple parosteal osteochondromatous proliferations, Myalgia eosinophilia associated with tryptophan, Myasthenia gravis, Myasthenia gravis congenital, Myasthenia familial, Myasthenia familial limb-girdle, Myasthenic syndrome congenital associated with acetylcholine receptor deficiency, Myasthenic syndrome congenital slow-channel, Mycetoma, Mycobacterium Abscessus, Mycobacterium Avium Complex, Mycobacterium Chelonae, Mycobacterium fortuitum, Mycobacterium Gordonae, Mycobacterium Kansasii, Mycobacterium Malmoense, Mycobacterium Marinum, Mycobacterium tuberculosis susceptibility to infection by, Mycobacterium Xenopi, Mycoplasmal pneumonia, Mycosis fungoides, Myelitis, Myelocerebellar disorder, Myelocytic leukemia-like syndrome familial chronic, Myelodysplastic syndromes, Myelodysplastic/myeloproliferative disease, Myelofibrosis, Myeloid sarcoma, Myeloid splenomegaly, Myelomeningocele, Myeloperoxidase deficiency, MYH-associated polyposis, MYH9 related thrombocytopenia, Myhre Ruvalcaba Graham syndrome, Myhre Ruvalcaba Kelley syndrome, Myhre School syndrome, Myocarditis, Myoclonus ataxia, Myoclonus cerebellar ataxia deafness, Myoclonus epilepsy, Myoclonus epilepsy partial seizure, Myoclonus hereditary progressive distal muscular atrophy, Myoclonus with epilepsy with ragged red fibers, Myoepithelial carcinoma, Myofibrillar lysis, Myofibrillar myopathy, Myoglobinuria dominant form, Myoglobinuria recurrent, Myokymia with neonatal epilepsy, Myopathic carnitine deficiency, Myopathy cataract hypogonadism, Myopathy congenital, Myopathy congenital multicore with external ophthalmoplegia, Myopathy growth and mental retardation hypospadias, Myopathy mitochondrial cataract, Myopathy ophthalmoplegia hypoacousia areflexia, Myopathy with lysis of myofibrils, Myopathy limb-girdle with bone fragility, Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay, Myopathy tubular aggregate, Myopathy X-linked with excessive autophagy, Myopia 6, Myostatin-related muscle hypertrophy, Myotonia atrophica, Myotonia congenita autosomal dominant, Myotonia congenita autosomal recessive, Myotonia mental retardation skeletal anomalies, Myotonic dystrophy, Myotonic dystrophy type 1, Myotonic dystrophy type 2, Myotubular myopathy, Myxoid liposarcoma, Myxoma-spotty pigmentation-endocrine overactivity, Myxomatous peritonitis, Myxopapillary ependymoma, Myxozoa

Rare Diseases and Disorders - Starting With "N"

N acetyltransferase deficiency, N syndrome, N-acetyl glucosamine 6-sulfate sulfatase deficiency, N-acetyl-alpha-D-galactosaminidase deficiency type III, N-acetylglutamate synthetase deficiency, Nablus mask-like facial syndrome, NADH cytochrome B5 reductase deficiency, Naegeli syndrome, Nager acrofacial dysostosis, Naguib-Richieri-Costa syndrome, Nail dysplasia isolated congenital, Nail patella syndrome, Nakajo syndrome, Nakamura Osame syndrome, Nance-Horan syndrome, Narcolepsy, Narrow oral fissure short stature cone shaped epiphyses, Nasal cavity cancer childhood, Nasal polyposis familial, Nasodigitoacoustic syndrome, Nasopalpebral lipoma coloboma syndrome, Nasopharyngeal cancer childhood, Nasopharyngeal carcinoma, Natal teeth intestinal pseudoobstruction and patent ductus, Nathalie syndrome, Native American myopathy, Navajo neurohepatopathy, Navajo poikiloderma, Naxos disease, Necrotizing enterocolitis, Necrotizing fasciitis, Negative rheumatoid factor polyarthritis, Neisseria meningitidis, Nelson syndrome, Nemaline myopathy 1, Nemaline myopathy 2, Nemaline myopathy 3, Nemaline myopathy 4, Nemaline myopathy 5, Nemaline myopathy 6, NEMO mutation with immunodeficiency, Neonatal adrenoleukodystrophy, Neonatal hemochromatosis, Neonatal herpes, Neonatal hypothyroidism, Neonatal intrahepatic cholestasis caused by citrin deficiency, Neonatal meningitis, Neonatal ovarian cyst, Neonatal progeroid syndrome, Neonatal stroke, Neonatal systemic lupus erythematosus, Nephrocalcinosis, Nephrogenic diabetes insipidus, Nephrogenic Systemic Fibrosis, Nephronophthisis 1, Nephronophthisis familial adult spastic quadriparesis, Nephropathic cystinosis, Nephropathy deafness hyperparathyroidism, Nephropathy familial with hyperuricemia, Nephrosclerosis, Nephrosis deafness urinary tract digital malformation, Nephrotic syndrome ocular anomalies, Nephrotic syndrome idiopathic steroid-resistant, Nerve sheath neoplasm, Netherton syndrome, Neu Laxova syndrome, Neuhauser Daly Magnelli syndrome, Neuhauser Eichner Opitz syndrome, Neural crest tumor, Neuroaxonal dystrophy renal tubular acidosis, Neuroaxonal dystrophy infantile, Neuroblastoma, Neurocutaneous melanosis, Neuroectodermal endocrine syndrome, Neuroendocrine carcinoma of the cervix, Neuroepithelioma, Neurofaciodigitorenal syndrome, Neuroferritinopathy, Neurofibroma, Neurofibromatosis, Neurofibromatosis type 1, Neurofibromatosis type 2, Neurofibromatosis type 3A, Neurofibromatosis type 3B, Neurofibromatosis type 4, Neurofibromatosis type 5, Neurofibromatosis type 6, Neurofibromatosis-Noonan syndrome, Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome, Neurofibrosarcoma, Neurogenic diabetes insipidus, Neurogenic hypertension, Neuroleptic malignant syndrome, Neuroma biliary tract, Neuromyelitis optica spectrum disorder, Neuronal ceroid lipofuscinoses, Neuronal interstitial dysplasia, Neuronal intranuclear inclusion disease, Neuropathy ataxia retinitis pigmentosa syndrome, Neuropathy hereditary sensory and autonomic type 1, Neuropathy motor sensory type 2 deafness mental retardation, Neuropathy sensory spastic paraplegia, Neuropathy congenital with arthrogryposis multiplex, Neuropathy distal hereditary motor Jerash type, Neuropathy hereditary motor and sensory LOM type, Neuropathy hereditary motor and sensory Okinawa type, Neuropathy hereditary motor and sensory Russe type, Neurosyphilis, Neurotoxicity syndromes, Neutral lipid storage disease with myopathy, Neutropenia chronic familial, Neutropenia lethal congenital with eosinophilia, Neutropenia monocytopenia deafness, Neutrophil-specific granule deficiency, Neutrophilic dermatosis acute febrile, Nevi flammei familial multiple, Nevo syndrome, Nevoid basal cell carcinoma syndrome, New daily-persistent headache, Nguyen syndrome, Nicolaides Baraitser syndrome, Niemann-Pick disease, Niemann-Pick disease type B, Niemann-Pick disease type C1, Niemann-Pick disease type C2, Niemann-Pick disease type D, Nievergelt syndrome, Night blindness skeletal anomalies unusual facies, Night blindness congenital stationary, Nijmegen breakage syndrome, Nipah virus encephalitis, Noble Bass Sherman syndrome, Nocardiosis, Nodular melanoma, Nodular nonsuppurative panniculitis, Noma, Non functioning pancreatic endocrine tumor, Non-alcoholic steatohepatitis (NASH), Non-dystrophic myotonic disorders, Non-Hodgkin lymphoma childhood, Non-Hodgkin lymphoma during pregnancy, Non-lissencephalic cortical dysplasia, Non-small cell lung cancer, Non-small cell lung cancer childhood, Nonaka myopathy, Nondystrophic myotonia, Nonmedullary thyroid carcinoma with or without cell oxyphilia, Nonseminomatous germ cell tumor, Nonsyndromic hereditary sensorineural hearing loss, Noonan syndrome 1, Noonan syndrome 2, Noonan syndrome 3, Noonan syndrome 4, Noonan syndrome 5, Noonan syndrome 6, Noonan-like syndrome with loose anagen hair, Noonan-like/multiple giant cell lesion syndrome, Normokalemic periodic paralysis, Norrie disease, North Carolina macular dystrophy, Norum disease, Notalgia paresthetica, Nova syndrome, Novak syndrome, Nuchal bleb familial, Nystagmus 1 congenital X- linked, Nystagmus 2 congenital autosomal dominant, Nystagmus 3 congenital autosomal dominant, Nystagmus 4 congenital autosomal dominant, Nystagmus congenital motor autosomal recessive, Nystagmus hereditary vertical, Nystagmus myoclonic

Rare Diseases and Disorders - Starting With "O"

O Donnell Pappas syndrome, Occipital horn syndrome, Occult spinal dysraphism, Ochoa syndrome, Ochronosis, Ocular albinism type 1, Ocular cicatricial pemphigoid, Ocular coloboma-imperforate anus, Ocular colobomas ichthyosis brain malformations and endocrine abnormalities, Ocular melanoma, Ocular motility disorders, Ocular Muscular Dystrophy, Ocular toxoplasmosis, Oculo cerebral dysplasia, Oculo cerebro acral syndrome, Oculo cerebro osseous syndrome, Oculo digital syndrome, Oculo skeletal renal syndrome, Oculo tricho anal syndrome, Oculo-gastrointestinal muscular dystrophy, Oculoauriculofrontonasal syndrome, Oculocerebral hypopigmentation syndrome type Preus, Oculocerebral syndrome with hypopigmentation, Oculocerebrocutaneous syndrome, Oculocerebrorenal syndrome, Oculocutaneous albinism type 1, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculodentodigital dysplasia, Oculodentodigital dysplasia dominant, Oculodentoosseous dysplasia dominant, Oculodentoosseous dysplasia recessive, Oculodigitoesophagoduodenal syndrome, Oculoectodermal syndrome, Oculofaciocardiodental syndrome, Oculomaxillofacial dysostosis, Oculomelic amyoplasia, Oculomotor apraxia Cogan type, Oculootofacial dysplasia, Oculopharyngeal muscular dystrophy, Oculorenocerebellar syndrome, Odonto onycho dysplasia with alopecia, Odontogenic myxoma, Odontoma, Odontoma dysphagia syndrome, Odontomicronychial dysplasia, Odontoonychodermal dysplasia, Ogilvie syndrome, Oguchi disease, Ohtahara syndrome, Okamuto Satomura syndrome, Oligoastrocytoma, Oligodactyly tetramelic postaxial, Oligodendroglioma, Oligomeganephronic renal hypoplasia, Oligomeganephrony, Oliver McFarlane syndrome, Oliver syndrome, Olivopontocerebellar atrophy, Olivopontocerebellar atrophy deafness, Ollier disease, Olmsted syndrome, Omenn syndrome, Omodysplasia 1, Omodysplasia 2, Omphalocele cleft palate syndrome lethal, Omphalocele exstrophy imperforate anus, Omphalomesenteric cyst, Omsk hemorrhagic fever, Onchocerciasis, Oncocytoma renal, Oncogenic osteomalacia, Onychotrichodysplasia and neutropenia, Ophthalmoplegic Muscular dystrophy, Opisthorchiasis, Opitz G/BBB syndrome, Opitz Reynolds Fitzgerald syndrome, Opsismodysplasia, Opthalmic icthyosis, Opthalmo acromelic syndrome, Opthalmomandibulomelic dysplasia, Opthalmoplegia mental retardation lingua scrotalis, Opthalmoplegia myalgia tubular aggregates, Opthalmoplegia progressive external scoliosis, Optic atrophy 1, Optic atrophy 1 and deafness, Optic atrophy 2, Optic atrophy 5, Optic atrophy 6, Optic atrophy and cataract autosomal dominant, Optic atrophy opthalmoplegia ptosis deafness myopia, Optic atrophy polyneuropathy deafness, Optic atrophy hearing loss and peripheral neuropathy autosomal dominant, Optic nerve hypoplasia familial bilateral, Optic neuritis, Optic neuropathy anterior ischemic, Optic pathway glioma, Opticoacoustic nerve atrophy dementia, Oral cancer, Oral leukoplakia, Oral lichen planus, Oral pharyngeal disorders, Oral squamous cell carcinoma, Oral submucous fibrosis, Oral-facial cleft, Orbital lymphangioma, Orbital lymphoma, Orbital melanoma, Organic acidemia, Organic mood syndrome, Ornithine aminotransferase deficiency, Ornithine transcarbamylase deficiency, Ornithine translocase deficiency syndrome, Ornithinemia, Oro acral syndrome, Orofaciodigital syndrome 1, Orofaciodigital syndrome 10, Orofaciodigital syndrome 11, Orofaciodigital syndrome 12, Orofaciodigital syndrome 13, Orofaciodigital syndrome 2, Orofaciodigital syndrome 3, Orofaciodigital syndrome 4, Orofaciodigital syndrome 5, Orofaciodigital syndrome 6, Orofaciodigital syndrome 8, Orofaciodigital syndrome 9, Orofaciodigital syndromes, Oropharyngeal cancer adult, Oropharyngeal cancer childhood, Orotic aciduria type 1, Orotidylic decarboxylase deficiency, Orstavik Lindemann Solberg syndrome, Orthostatic intolerance, Oslam syndrome, OSMED Syndrome, Ossicular Malformations familial, Ossification of the posterior longitudinal ligament of the spine, Osteoarthropathy of fingers familial, Osteochondritis dissecans, Osteochondrodysplasia thrombocytopenia hydrocephalus, Osteochondroma, Osteodysplasia familial Anderson type, Osteodysplastic dwarfism Corsello type, Osteodysplasty precocious of Danks Mayne and Kozlowski, Osteoectasia familial, Osteogenesis imperfecta, Osteogenesis imperfecta congenita microcephaly and cataracts, Osteogenesis imperfecta Levin type, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 1A, Osteogenesis imperfecta type 2A, Osteogenesis imperfecta type 2B, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4, Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 9, Osteoglophonic dysplasia, Osteolysis syndrome recessive, Osteomalacia, Osteomyelitis, Osteonecrosis, Osteopathia striata cranial sclerosis, Osteopathia striata with pigmentary dermopathy including white forelock, Osteopenia and sparse hair, Osteopetroses, Osteopetrosis and infantile neuroaxonal dystrophy, Osteopetrosis autosomal dominant type 1, Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 1, Osteopetrosis autosomal recessive 2, Osteopetrosis autosomal recessive 3, Osteopetrosis autosomal recessive 4, Osteopetrosis autosomal recessive 5, Osteopetrosis autosomal recessive 6, Osteopetrosis autosomal recessive 7, Osteopoikilosis, Osteopoikilosis and dacryocystitis, Osteoporosis macrocephaly mental retardation blindness, Osteoporosis oculocutaneous hypopigmentation syndrome, Osteoporosis-pseudoglioma syndrome, Osteosarcoma, Osteosclerosis abnormalities of nervous system and meninges, Osteosclerosis autosomal dominant Worth type, Osteosclerosis with ichthyosis and premature ovarian failure, Ota Kawamura Ito syndrome, Oto-Palatal-digital syndrome, Oto-palato-digital syndrome type 1, Oto-palato-digital syndrome type 2, Otodental dysplasia, Otofaciocervical syndrome, Otoonychoperoneal syndrome, Otosclerosis familial, Ouvrier Billson syndrome, Ovarian cancer, Ovarian cancer childhood, Ovarian carcinosarcoma, Ovarian epithelial cancer, Ovarian germ cell tumor, Ovarian insufficiency due to FSH resistance, Ovarian insufficiency familial, Ovarian low malignant potential tumor, Ovarian remnant syndrome, Ovarian small cell carcinoma, Overgrowth radial ray defect arthrogryposis, Overgrowth syndrome type Fryer, Oxalosis

Rare Diseases and Disorders - Starting With "P"

Pachydermoperiostosis, Pachygyria, Pachygyria with mental retardation and seizures, Pachygyria frontotemporal, Pachyonychia congenita, Pachyonychia congenita type 1, Pachyonychia congenita type 2, Pacman dysplasia, Paget disease of bone familial, Paget disease of the breast, Paget disease extramammary, Paget disease juvenile, PAGOD syndrome, Pagon Stephan syndrome, Paine syndrome, Palant cleft palate syndrome, Palatopharyngeal incompetence, Pallidopyramidal syndrome, Pallister W syndrome, Pallister-Hall syndrome, Pallister-Killian mosaic syndrome, Palmer Pagon syndrome, Palmoplantar keratoderma, Palmoplantar keratoderma of Sybert, Palmoplantar keratoderma epidermolytic, Pancreatic adenoma, Pancreatic beta cell agenesis with neonatal diabetes mellitus, Pancreatic cancer, Pancreatic cancer childhood, Pancreatic carcinoma familial, Pancreatic islet cell tumors, Pancreatic lipomatosis duodenal stenosis, Pancreatitis pediatric, Pancreatoblastoma, PANDAS, Panhypopituitarism X-linked, Panostotic fibrous dysplasia, Pantothenate kinase-associated neurodegeneration, Panuveitis, Papillary cystadenocarcinoma, Papillary eccrine adenoma, Papillary renal cell carcinoma, Papilledema, Papillon Lefevre syndrome, Papillorenal syndrome, Papular mucinosis, Papular urticaria, Paracoccidioidomycosis, Paraganglioma and gastric stromal sarcoma, Paragangliomas 1, Paragangliomas 2, Paragangliomas 3, Paragangliomas 4, Paragonimiasis, Parainfluenza virus type 3, Paralysis agitans juvenile of Hunt, Paramyotonia congenita, Paranasal sinus cancer adult, Paranasal sinus cancer childhood, Paraneoplastic cerebellar degeneration, Paraneoplastic Neurologic Disorders, Paraomphalocele, Paraplegia, Parapsoriasis, Paraquat lung, Parastremmatic dwarfism, Parathyroid cancer childhood, Parathyroid carcinoma, PARC syndrome, Parenchymatous cortical degeneration of cerebellum, Paris-Trousseau thrombocytopenia, Parkes Weber syndrome, Parkinson disease 3, Parkinson disease 9, Parkinson disease juvenile autosomal recessive, Parkinsonism early onset with mental retardation, Paroxysmal cold hemoglobinuria, Paroxysmal hemicrania, Paroxysmal nocturnal hemoglobinuria, Paroxysmal ventricular fibrillation, Pars planitis, Parsonage Turner syndrome, Partial agenesis of corpus callosum, Partial atrioventricular canal, Partial deletion of Y, Partial lissencephaly, Partington Anderson syndrome, Partington X-linked mental retardation syndrome, Parvovirus antenatal infection, Pashayan syndrome, Passos-Bueno syndrome, Pasteurella multocida infection, Patel Bixler syndrome, Patella aplasia coxa vara tarsal synostosis, Patella hypoplasia mental retardation, Patent ductus arteriosus, Patent ductus venosus, Patterned dystrophy of retinal pigment epithelium, Patterson pseudoleprechaunism syndrome, Patterson Stevenson syndrome, Pauciarticular chronic arthritis, Pearson marrow-pancreas syndrome, Pectus carinatum, Pediatric Crohns disease, Pediatric multiple sclerosis, Pediatric T-cell leukemia, Pediatric ulcerative colitis, Peeling skin syndrome, PEHO syndrome, Pelger-Huet anomaly, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease late-onset type, Pellagra, Pellagra like syndrome, Pelvic dysplasia arthrogryposis of lower limbs, Pelvic lipomatosis, Pemphigoid gestationis, Pemphigus, Pemphigus and fogo selvagem, Pemphigus foliaceus, Pemphigus vulgaris, Pemphigus vulgaris familial, Pena Shokeir syndrome type 1, Pendred syndrome, Penile cancer adult, Penile cancer childhood, Penis agenesis, Penoscrotal transposition, Pentalogy of Cantrell, Pentosuria, Penttinen-Aula syndrome, PEPCK 1 deficiency, PEPCK 2 deficiency, Peptidic growth factors deficiency, Periarteritis nodosa, Pericardium absent mental retardation short stature, Perilymphatic fistula, Perimyositis, Periodic fever aphthous stomatitis pharyngitis and adenitis, Periodic fever familial autosomal dominant, Peripartum cardiomyopathy, Peripheral T-cell lymphoma, Peripheral type neurofibromatosis, Periventricular leukomalacia, Permanent neonatal diabetes mellitus, Perniosis, Peroxisome biogenesis disorders, Perry syndrome, Persistent hyperinsulinemic hypoglycemia of infancy, Persistent Mullerian duct syndrome, Persistent truncus arteriosus, Peters anomaly, Peters plus syndrome, Petit Fryns syndrome, Peutz Jeghers syndrome, Peyronie disease, Pfeiffer Kapferer syndrome, Pfeiffer Mayer syndrome, Pfeiffer Palm Teller syndrome, Pfeiffer Rockelein syndrome, Pfeiffer syndrome, Pfeiffer Tietze Welte syndrome, PHACE syndrome, Phacomatosis fourth, Phacomatosis pigmentokeratotica, Phacomatosis pigmentovascularis, PHAVER syndrome, Phenobarbital antenatal infection, Phenobarbital embryopathy, Phenothiazine antenatal infection, Phenylketonuria, Phenylketonuric embryopathy, Pheochromocytoma, Pheochromocytoma childhood, Pheochromocytoma-islet cell tumor syndrome, Philadelphia-negative chronic myeloid leukemia, Phocomelia contractures absent thumb, Phocomelia ectrodactyly deafness sinus arrhythmia, Phocomelia thrombocytopenia encephalocele, Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia, Phosphoglucomutase deficiency, Phosphoglucomutase deficiency type 1, Phosphoglucomutase deficiency type 2, Phosphoglucomutase deficiency type 3, Phosphoglucomutase deficiency type 4, Phosphoglycerate kinase 1 deficiency, Phosphoglycerate kinase deficiency, Phosphomannoisomerase deficiency, Phosphoribosylpyrophosphate synthetase deficiency, Photosensitive epilepsy, Phyllodes tumor of the prostate, PIBIDS syndrome, Picardi-Lassueur-Little syndrome, Pick's disease, Piebaldism, Piepkorn Karp Hickok syndrome, Pierre Marie cerebellar ataxia, Pierre Robin sequence faciodigital anomaly, Pierre Robin sequence with pectus excavatum and rib and scapular anomalies, Pierre Robin syndrome skeletal dysplasia polydactyly, Pierre Robin's sequence, Pierson syndrome, Pigment-dispersion syndrome, Pigmentary retinopathy, Pigmented purpuric eruption, Pigmented villonodular synovitis, Pili annulati, Pili multigemini, Pili torti, Pili torti developmental delay neurological abnormalities, Pili torti onychodysplasia, Pillay syndrome, Pilo dento ungular dysplasia microcephaly, Pilocytic astrocytoma, Pilodental dysplasia with refractive errors, Pilomatrixoma, Pilotto syndrome, Pineal parenchymal tumors of intermediate differentiation, Pineoblastoma, Pineoblastoma childhood, Pineocytoma, Pinheiro Freire-Maia Miranda syndrome, Pinta, Piriformis syndrome, Pitt syndrome, Pitt-Hopkins syndrome, Pituitary cancer, Pituitary dwarfism with large sella turcica, Pituitary hormone deficiency combined 1, Pituitary hormone deficiency combined 2, Pituitary hormone deficiency combined 3, Pituitary hormone deficiency combined 4, Pityriasis lichenoides, Pityriasis lichenoides chronica, Pityriasis lichenoides et varioliformis acuta, Pityriasis rubra pilaris, Piussan Lenaerts Mathieu syndrome, Placenta disorder, Plagiocephaly, Plagiocephaly and X-linked mental retardation, Plasma cell leukemia, Plasma thromboplastin antecedent deficiency, Plasmacytoma anaplastic, Plasmalogens synthesis deficiency isolated, Plasminogen activator inhibitor type 1 deficiency, Platelet disorder familial with associated myeloid malignancy, Platelet storage pool deficiency, Platyspondylic lethal skeletal dysplasia Torrance type, Pleoconial myopathy with salt craving, Pleomorphic malignant fibrous histiocytoma, Pleomorphic xanthoastrocytoma, Pleuropulmonary blastoma, Plexosarcoma, Plummer Vinson syndrome, Pneumocystic carinii pneumonia, Pneumocystosis, Pneumonia eosinophilic, Podder-Tolmie syndrome, POEMS syndrome, Poikiloderma with neutropenia, Poikilodermatomyositis mental retardation, Poikilodermia alopecia retrognathism cleft palate, Pointer syndrome, Poland syndrome, Poliomyelitis, Polyarteritis nodosa, Polyarthritis systemic, Polycystic bone disease, Polycystic kidneys severe infantile with tuberous sclerosis, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Polycystic liver disease, Polycythemia vera, Polydactyly, Polydactyly alopecia seborrheic dermatitis, Polydactyly cleft lip palate psychomotor retardation, Polydactyly myopia syndrome, Polydactyly postaxial, Polydactyly postaxial dental and vertebral, Polydactyly preaxial type 1, Polydactyly preaxial type 4, Polydactyly syndrome middle ray duplication, Polydactyly visceral anomalies cleft lip palate, Polyembryoma, Polyglucosan body disease adult, Polymicrogyria turricephaly hypogenitalism, Polymorphic catecholergic ventricular tachycardia, Polymorphic reticulosis, Polymorphous low-grade adenocarcinoma, Polymyositis, Polyneuropathy hand defect, Polyneuropathy mental retardation acromicria premature menopause, Polyomavirus allograft nephropathy, Polyosteolysis/hyperostosis syndrome, Polyostotic osteolytic dysplasia hereditary expansile, Polysyndactyly cardiac malformation, Polysyndactyly microcephaly ptosis, Polysyndactyly orofacial anomalies, Polysyndactyly trigonocephaly agenesis of corpus callosum, Polysyndactyly type 4, Polysyndactyly type Haas, Poncet-Spiegler's cylindroma, Pontocerebellar hypoplasia type 1, Pontocerebellar hypoplasia type 2, Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 6, Pontoneocerebellar Hypoplasia, Popliteal pterygium syndrome, Popliteal pterygium syndrome lethal type, Porencephaly, Porencephaly cerebellar hypoplasia internal malformations, Porokeratosis of Mibelli, Porokeratosis plantaris palmaris et disseminata, Porokeratosis punctata palmaris et plantaris, Porokeratosis disseminated superficial actinic 1, Porokeratosis disseminated superficial actinic 2, Porphyria, Porphyria cutanea tarda, Portal hypertension, Portal hypertension due to infrahepatic block, Positive rheumatoid factor polyarthritis, Post Polio syndrome, Post-infectious myocarditis, Post-infectious reactive arthropathy, Post-Streptococcal Neurologic Disorders, Post-transplant lymphoproliferative disease, Post-traumatic epilepsy, Postaxial polydactyly mental retardation, Posterior column ataxia, Posterior column ataxia with retinitis pigmentosa, Posterior urethral valves, Posterior valve urethra, Postorgasmic illness syndrome, Postural orthostatic tachycardia syndrome, Potassium aggravated myotonia, Potato nose, Potocki-Lupski syndrome, Potocki-Shaffer syndrome, Potter syndrome, Potter syndrome type 1, Potter syndrome type 2, Potter syndrome type 3, Potter syndrome type 4, Powell Buist Stenzel syndrome, Prader-Willi habitus osteopenia and camptodactyly, Prader-Willi syndrome, Prata Libûral Gonûáalves syndrome, Preaxial deficiency postaxial polydactyly and hypospadias, Precocious epileptic encephalopathy, Precocious myoclonic encephalopathy, Precocious puberty, Precocious puberty gonadotropin-dependent, Preeyasombat Varavithya syndrome, Prekallikrein deficiency congenital, Premature aging Okamoto type, Premature atherosclerosis with photomyoclonic epilepsy deafness diabetes mellitus nephropathy an, Premature ovarian failure familial, Presenile dementia Kraepelin type, Priapism, Prieto X-linked mental retardation syndrome, Primary agammaglobulinemia, Primary amebic meningoencephalitis, Primary angiitis of the central nervous system, Primary basilar impression, Primary biliary cirrhosis, Primary carnitine deficiency, Primary ciliary dyskinesia, Primary cortisol resistance, Primary effusion lymphoma, Primary familial xanthomatosis with involvement and calcification of the adrenal galnds, Primary gastrointestinal melanoma, Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Primary hyperoxaluria type 3, Primary lateral sclerosis, Primary malignant lymphoma, Primary malignant melanoma of the cervix, Primary malignant melanoma of the conjunctiva, Primary open angle glaucoma juvenile onset 1, Primary orthostatic tremor, Primary progressive aphasia, Primary release disorder of platelets, Primary sclerosing cholangitis, Primary tubular proximal acidosis, Primrose syndrome, Prinzmetal's variant angina, Procarcinoma, Proconvertin deficiency congenital, Progeria, Progeria variant syndrome Ruvalcaba type, Progeroid short stature with pigmented nevi, Progeroid syndrome Petty type, Progeroid syndrome Penttinen type, Prognathism mandibular, Progressive black carbon hyperpigmentation of infancy, Progressive familial heart block type 1A, Progressive familial heart block type 1B, Progressive familial heart block type 2, Progressive hemifacial atrophy, Progressive kinking of the hair acquired, Progressive multifocal leukoencephalopathy, Progressive myoclonic epilepsy, Progressive non-fluent aphasia, Progressive osseous heteroplasia, Progressive supranuclear palsy, Progressive supranuclear palsy atypical, Progressive transformation of germinal centers, Prolactinoma familial, Prolerating trichilemmal cyst, Prolidase deficiency, Proopiomelanocortin deficiency, Properdin deficiency, Properdin deficiency X-linked, Propionic acidemia, Prosencephaly cerebellar dysgenesis, Prosopagnosia hereditary, Prostaglandin-Endoperoxide Synthase Deficiency, Prostatic malacoplakia associated with prostatic abscess, Prostatic stromal proliferation of uncertain malignant potential, Protein R deficiency, Protein S deficiency, Proteus like syndrome mental retardation eye defect, Proteus syndrome, Prothrombin thrombophilia, Protoporphyria, Proud Levine Carpenter syndrome, Proximal spinal muscular atrophy, Prune belly syndrome, Prurigo nodularis, Pruritic urticarial papules plaques of pregnancy, Pseudo Pelger-Huet anomaly, Pseudo-Turner syndrome, Pseudo-Von Willebrand disease, Pseudoachondroplasia, Pseudoachondroplastic dysplasia 2, Pseudoainhum, Pseudoaldosteronism, Pseudoaminopterin syndrome, Pseudoarylsulfatase A deficiency, Pseudocholinesterase deficiency, Pseudodiastrophic dysplasia, Pseudohermaphrodism anorectal anomalies, Pseudohyperkalemia Cardiff, Pseudohypoaldosteronism type 1 autosomal dominant, Pseudohypoaldosteronism type 1 autosomal recessive, Pseudohypoaldosteronism type 2, Pseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 2, Pseudoinflammatory fundus dystrophy, Pseudomarfanism, Pseudomonas stutzeri infections, Pseudomongolism, Pseudomyotonia, Pseudomyxoma peritonei, Pseudoneonatal adrenoleukodystrophy, Pseudopapilledema blepharophimosis hand anomalies, Pseudopelade of Brocq, Pseudopolycythaemia, Pseudoprogeria syndrome, Pseudopseudohypoparathyroidism, Pseudotrisomy 13 syndrome, Pseudotumor cerebri, Pseudovaginal perineoscrotal hypospadias, Pseudoxanthoma elasticum, Pseudoxanthoma elasticum dominant form, Pseudoxanthoma elasticum forme fruste, Pseudoxanthoma elasticum recessive form, Psittacosis, Pterigium Colli, Pterygia mental retardation and distinctive craniofacial features, Pterygium antecubital, Pterygium colli mental retardation digital anomalies, Pterygium of the conjunctiva and cornea, Ptosis coloboma mental retardation, Ptosis strabismus diastasis, Ptosis strabismus ectopic pupils, Pudendal Neuralgia, Pulmonar arterioveinous aneurysm, Pulmonary alveolar proteinosis acquired, Pulmonary arterio-veinous fistula, Pulmonary arteriovenous malformation, Pulmonary artery agenesis, Pulmonary artery coming from the aorta, Pulmonary artery familial dilatation, Pulmonary artery isolated unilateral absence of (Isolated UAPA), Pulmonary artery unilateral absence of (UAPA), Pulmonary atresia with ventricular septal defect, Pulmonary branches stenosis, Pulmonary edema of mountaineers, Pulmonary hypoplasia familial primary, Pulmonary sequestration, Pulmonary supravalvular stenosis, Pulmonary surfactant protein B deficiency, Pulmonary valve stenosis, Pulmonary valves agenesis, Pulmonary vein stenosis, Pulmonary venoocclusive disease, Pulmonary venous return anomaly, Pulmonaryatresia intact ventricular septum, Pulmonic stenosis, Punctate acrokeratoderma freckle like pigmentation, Punctate inner choroidopathy, Pure autonomic failure, Pure red cell aplasia, Purine nucleoside phosphorylase deficiency, Pycnodysostosis, Pyknoachondrogenesis, Pyle disease, Pyoderma gangrenosum, Pyogenic arthritis pyoderma gangrenosum and acne, Pyomyositis, Pyridoxal 5'-phosphate-dependent epilepsy, Pyridoxine deficiency, Pyridoxine-dependent epilepsy, Pyropoikilocytosis hereditary, Pyruvate carboxylase deficiency, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase deficiency, Pyruvate dehydrogenase phosphatase deficiency, Pyruvate kinase deficiency, Pyruvate kinase deficiency liver type, Pyruvate kinase deficiency muscle type

Rare Diseases and Disorders - Starting With "Q"

Q fever, Qazi Markouizos syndrome, Quebec platelet disorder, Quinquaud's decalvans folliculitis

Rare Diseases and Disorders - Starting With "R"

Rabies, Rabson-Mendenhall syndrome, Radial defect Robin sequence, Radial hypoplasia triphalangeal thumbs and hypospadias, Radial ray agenesis, Radial ray hypoplasia choanal atresia, Radiation induced angiosarcoma of the breast, Radiation induced brachial plexopathy, Radiation induced cancer, Radiation induced meningioma, Radio digito facial dysplasia, Radio renal syndrome, Radio-ulnar synostosis type 1, Radio-ulnar synostosis type 2, Radioulnar synostosis retinal pigment abnormalities, Radioulnar synostosis with microcephaly short stature scoliosis and mental retardation, Radius absent anogenital anomalies, Raine syndrome, Ramer Ladda syndrome, Ramon Syndrome, Ramos Arroyo Clark syndrome, Rapadilino syndrome, Rapp-Hodgkin syndrome, Rasmussen encephalitis, Rasmussen Johnsen Thomsen syndrome, Rat bite fever, Ray Peterson Scott syndrome, Reactive angioendotheliomatosis, Reardon Hall Slaney syndrome, Reardon Wilson Cavanagh syndrome, Recessive developmental delay small stature microcephaly and brain calcifications, Recombinant chromosome 8 syndrome, Rectal cancer childhood, Rectal neoplasm, Rectosigmoid neoplasm, Recurrent peripheral facial palsy, Recurrent respiratory papillomatosis, Red cell phospholipid defect with hemolysis, Red skin pigment anomaly of New Guinea, Reductional transverse limb defects, Reed syndrome, Reese retinal dysplasia, Refsum disease, Refsum disease with increased pipecolic acidemia, Refsum disease infantile form, Reginato Shiapachasse syndrome, Reiter syndrome, Relapsing polychondritis, Renal adysplasia dominant type, Renal agenesis meningomyelocele mullerian defect, Renal agenesis bilateral, Renal caliceal diverticuli deafness, Renal cancer, Renal carcinoma familial, Renal cell carcinoma 4, Renal dysplasia - limb defects syndrome, Renal dysplasia diffuse autosomal recessive, Renal dysplasia diffuse cystic, Renal dysplasia limb defects, Renal dysplasia megalocystis sirenomelia, Renal dysplasia mesomelia radiohumeral fusion, Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia, Renal genital middle ear anomalies, Renal glycosuria, Renal hamartomas nephroblastomatosis and fetal gigantism, Renal hypouricemia, Renal pelvis and ureter transitional cell cancer, Renal rickets, Renal tubular acidosis, Renal tubular acidosis progressive nerve deafness, Renal tubular acidosis distal, Renal tubular acidosis distal autosomal dominant, Renal tubular acidosis distal autosomal recessive, Renal tubular acidosis distal type 3, Renal tubular acidosis distal type 4, Renal tubular dysgenesis, Renal tubulopathy diabetes mellitus and cerebellar ataxia due to duplication of mitochondrial DNA, Renier Gabreels Jasper syndrome, Renoanogenital syndrome, Renoprival hypertension, Renpenning syndrome 1, Resistance to LH (luteinizing hormone), Resistance to thyroid stimulating hormone, Respiratory distress syndrome infant, Restless legs syndrome susceptibility to 1, Restless legs syndrome susceptibility to 2, Restless legs syndrome susceptibility to 3, Restless legs syndrome susceptibility to 4, Restless legs syndrome susceptibility to 5, Restless legs syndrome susceptibility to 6, Reticular dysgenesis, Reticuloendotheliosis, Retinal cone dystrophy 1, Retinal cone dystrophy 2, Retinal cone dystrophy 3A, Retinal cone dystrophy 3B, Retinal cone dystrophy 4, Retinal degeneration with nanophthalmos cystic macular degeneration and angle closure glaucoma, Retinal dysplasia X-linked, Retinal telangiectasia hypogammaglobulinemia, Retinis pigmentosa deafness hypogenitalism, Retinitis pigmentosa, Retinitis pigmentosa 1, Retinitis Pigmentosa 11, Retinitis pigmentosa 12, Retinitis Pigmentosa 13, Retinitis Pigmentosa 14, Retinitis Pigmentosa 15, Retinitis Pigmentosa 17, Retinitis Pigmentosa 18, Retinitis Pigmentosa 19, Retinitis pigmentosa 2 x linked, Retinitis Pigmentosa 20, Retinitis Pigmentosa 22, Retinitis Pigmentosa 23, Retinitis Pigmentosa 24, Retinitis Pigmentosa 25, Retinitis Pigmentosa 26, Retinitis Pigmentosa 28, Retinitis pigmentosa 29, Retinitis pigmentosa 3, Retinitis Pigmentosa 30, Retinitis Pigmentosa 31, Retinitis Pigmentosa 32, Retinitis Pigmentosa 33, Retinitis Pigmentosa 34, Retinitis Pigmentosa 35, Retinitis Pigmentosa 36, Retinitis Pigmentosa 4, Retinitis Pigmentosa 41, Retinitis Pigmentosa 6, Retinitis Pigmentosa 7, Retinitis Pigmentosa 9, Retinitis pigmentosa deafness mental retardation and hypogonadism, Retinitis pigmentosa-deafness syndrome, Retinoblastoma, Retinohepatoendocrinologic syndrome, Retinopathy anemia CNS anomalies, Retinopathy aplastic anemia neurological abnormalities, Retinopathy of prematurity, Retinopathy pigmentary mental retardation, Retinopathy arteriosclerotic, Retinoschisis autosomal dominant, Retinoschisis of Fovea, Retroperitoneal fibrosis, Retroperitoneal liposarcoma, Rett syndrome, Revesz syndrome, Reye syndrome, Reynolds Neri Hermann syndrome, Reynolds syndrome, Rhabditida Infections, Rhabdoid tumor, Rhabdomyomatous dysplasia cardiopathy genital anomalies, Rhabdomyomatous mesenchymal hamartoma, Rhabdomyosarcoma alveolar, Rhabdomyosarcoma embryonal, Rheumatic Fever, Rheumatoid nodulosis, Rheumatoid vasculitis, Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 3, Rhizomelic dysplasia Patterson Lowry type, Rhizomelic dysplasia scoliosis and retinitis pigmentosa, Rhizomelic pseudopolyarthritis, Rhizomelic syndrome, RHYNS syndrome, Ribbing disease, Richards-Rundle syndrome, Richieri Costa Da Silva syndrome, Richieri Costa Guion-Almeida syndrome, Richieri Costa Orquizas syndrome, Richieri Costa Pereira syndrome, Richieri-Costa Colletto Otto syndrome, Richieri-Costa Guion-Almeida Cohen syndrome, Richter syndrome, Rickets, Right atrium familial dilatation, Right ventricle hypoplasia, Rigid spine syndrome, Ring dermoid of cornea, Ringed hair disease, Rippling muscle disease, Rippling muscle disease 1, Roberts syndrome, Robin sequence and oligodactyly, Robinow Sorauf syndrome, Robinow syndrome, Robinson Miller Bensimon syndrome, Roch-Leri mesosomatous lipomatosis, Rocky mountain spotted fever, Rod myopathy, Rodini Richieri Costa syndrome, Rodrigues blindness, ROHHAD, Roifman syndrome, Rokitansky sequence, Rokitansky-Aschoff sinuses of the gallbladder, Rombo syndrome, Rommen Mueller Sybert syndrome, Rosai-Dorfman disease, Rosenberg Chutorian syndrome, Rothmund Thomson syndrome, Rotor syndrome, Roussy Levy syndrome, Rowley-Rosenberg syndrome, Roy Maroteaux Kremp syndrome, Rozin Hertz Goodman syndrome, Rubella, Rubella congenital, Rubinstein Taybi like syndrome, Rubinstein-Taybi syndrome, Rud Syndrome, Rudd Klimek syndrome, Rufous oculocutaneous albinism, Rumination disorder, Rutherfurd syndrome, Ruvalcaba Churesigaew Myhre syndrome, Ruvalcaba syndrome, Ruzicka Goerz Anton syndrome

Rare Diseases and Disorders - Starting With "S"

Saal Bulas syndrome, Sabinas brittle hair syndrome, Saccharopinuria, Sackey Sakati Aur syndrome, Sacral agenesis, Sacral defect with anterior meningocele, Sacral hemangiomas multiple congenital abnormalities, Sacral meningocele conotruncal heart defects, Sacral plexopathy, Sacrococcygeal Teratoma, Saethre-Chotzen syndrome, Saito Kuba Tsuruta syndrome, Sakati syndrome, Sakoda complex, Salcedo syndrome, Salivary gland cancer adult, Salivary gland cancer childhood, Salla disease, Sallis Beighton syndrome, Sammartino Decreccio syndrome, Samson Gardner syndrome, Samson Viljoen syndrome, Sanderson Fraser syndrome, Sandhaus Ben-Ami syndrome, Sandhoff disease, Sandifer syndrome, Santos Mateus Leal syndrome, SAPHO syndrome, Sarcoidosis, Sarcoma botryoides, Sarcosinemia, SARS, Satoyoshi syndrome, Saul Wilkes Stevenson syndrome, Say Barber Miller syndrome, Say Carpenter syndrome, Say Field Coldwell syndrome, Say Meyer syndrome, Say syndrome, Scalp defects postaxial polydactyly, Scalp ear nipple syndrome, Scaphotrapeziotrapezoid arthrodesis, Scapuloperoneal myopathy, Scapuloperoneal myopathy MYH7-related, Scapuloperoneal syndrome neurogenic Kaeser type, SCARF syndrome, Schaap Taylor Baraitser syndrome, Schaefer Stein Oshman syndrome, Scheuermann disease, Schimke immunoosseous dysplasia, Schimke X-linked mental retardation syndrome, Schindler disease type 1, Schinzel Giedion syndrome, Schisis association, Schistosomiasis, Schizencephaly, Schizophrenia mental retardation deafness retinitis, Schizotaxia, Schlegelberger Grote syndrome, Schmitt Gillenwater Kelly syndrome, Schneckenbecken dysplasia, Scholte syndrome, Schrander-Stumpel Theunissen Hulsmans syndrome, Schroer Hammer Mauldin syndrome, Schwannoma, Schwannomatosis, Schwartz Cohen-Addad Lambert syndrome, Schwartz Jampel syndrome type 1, Scleredema, Scleroatonic muscular dystrophy, Sclerocornea Syndactyly ambiguous genitalia, Scleromyxedema, Sclerosing bone dysplasia mental retardation, Sclerosing mesenteritis, Sclerosteosis, Sclerotylosis, Scoliosis as part of NF, Scoliosis with unilateral unsegmented bar, SCOT deficiency, Scott Bryant Graham syndrome, Scott syndrome, Scurvy, Sea-Blue histiocytosis, Seaver Cassidy syndrome, Sebaceous gland hyperplasia familial presenile, Sebocystomatosis, Secernentea Infections, Seckel like syndrome Majoor-Krakauer type, Seckel syndrome, Secretory breast carcinoma, Sedlackova syndrome, Seemanova Lesny syndrome, Segawa syndrome autosomal recessive, Seghers syndrome, Segmental vertebral anomalies, Segmentation syndrome 1, Seizures benign familial neonatal recessive form, Seizures mental retardation hair dysplasia, Selective IgA deficiency, Selenium poisoning, Selig Benacerraf Greene syndrome, Semantic dementia, Seminoma, Semmekrot Haraldsson Weemaes syndrome, Sener syndrome, Senior Loken Syndrome, Sennetsu Fever, Sensory ataxic neuropathy dysarthria and ophthalmoparesis, Sensory neuropathy type 1, Senter syndrome, Seow Najjar syndrome, Sepiapterin reductase deficiency, Septo-optic dysplasia, Sequeiros Sack syndrome, Seres-Santamaria Arimany Muniz syndrome, Serkal syndrome, Serpentine fibula polycystic kidney syndrome, Serpiginous choroiditis, Sertoli cell-only syndrome, Sertoli-leydig cell tumors, SeSAME syndrome, Severe achondroplasia with developmental delay and acanthosis nigricans, Severe combined immunodeficiency, Severe combined immunodeficiency with sensitivity to ionizing radiation, Severe combined immunodeficiency atypical, Severe congenital neutropenia autosomal dominant, Severe congenital neutropenia autosomal recessive 3, Severe congenital neutropenia X-linked, Severe generalized recessive dystrophic epidermolysis bullosa, Severe immunodeficiency autosomal recessive T-cell negative B-cell negative NK cell-positive, Severe infantile axonal neuropathy, Severe mental retardation and absent nails of hallux and pollex, Sezary syndrome, Shapiro syndrome, Sharma Kapoor Ramji syndrome, Sharp syndrome, Shaver's disease, Sheehan syndrome, Shigellosis, Shith Filkins syndrome, Short bowel syndrome, Short broad great toe macrocranium, Short chain acyl CoA dehydrogenase deficiency, Short limb dwarf edema iris coloboma, Short limb dwarf lethal Colavita Kozlowski type, Short limb dwarf lethal Mcalister Crane type, Short limbs abnormal face congenital heart disease, Short limbs subluxed knees cleft palate, Short rib-polydactyly syndrome type 3, Short rib-polydactyly syndrome type 1, Short rib-polydactyly syndrome type 2, Short rib-polydactyly syndrome type 4, Short ribs craniosynostosis polysyndactyly, Short stature abnormal skin pigmentation mental retardation, Short stature contractures hypotonia, Short stature cranial hyperostosis hepatomegaly, Short stature deafness neutrophil dysfunction, Short stature dysmorphic face pelvic scapula dysplasia, Short stature hyperkaliemia acidosis, Short stature mental retardation eye anomalies, Short stature microcephaly seizures deafness, Short stature monodactylous ectrodactyly cleft palate, Short stature prognathism short femoral necks, Short stature Robin sequence cleft mandible hand anomalies clubfoot, Short stature syndrome Brussels type, Short stature talipes natal teeth, Short stature valvular heart disease, Short stature webbed neck heart disease, Short stature wormian bones dextrocardia, Short stature cranial hyperostosis hepatomegaly and diabetes, SHORT syndrome, Short tarsus absence of lower eyelashes, Shoulder and thorax deformity congenital heart disease, Shoulder girdle defect mental retardation familial, Shprintzen omphalocele syndrome, Shprintzen omphalocele syndrome, Shprintzen-Goldberg craniosynostosis syndrome, Shwachman-Diamond syndrome, Shwartzman phenomenon, Sialadenitis, Sialidosis type I, Sialidosis type II, Sialuria French type, Sickle cell anemia, Sickle delta beta thalassemia, Siderius X-linked mental retardation syndrome, Sideroblastic anemia acquired, Sideroblastic anemia and mitochondrial myopathy, Sideroblastic anemia pyridoxine-refractory autosomal recessive, Sideroblastic anemia pyridoxine-responsive autosomal recessive, Sideroblastic anemia X-linked, Siderosis, Siegler Brewer Carey syndrome, Signet ring cell carcinoma, Silengo Lerone Pelizza syndrome, Silicosiderosis, Silicosis, Sillence syndrome, Silver-Russell syndrome, Silvery hair syndrome, Simian B virus infection, Simosa cranio facial syndrome, Simpson-Golabi-Behmel syndrome, Sine scleroderma, Singh Chhaparwal Dhanda syndrome, Single upper central incisor, Single ventricular heart, Singleton Merten syndrome, Sinonasal undifferentiated carcinoma, Sinus cancer, Sinus node disease and myopia, Sirenomelia, Sitosterolemia, Situs inversus, Situs inversus totalis with cystic dysplasia of kidneys and pancreas, Sixth nerve palsy, Sjogren's syndrome juvenile secondary to autoimmune disease, Sjogren-Larsson syndrome, Sjogren-Larsson-like syndrome, Skeletal dysplasia orofacial anomalies, Skeletal dysplasia San Diego type, Skeleto cardiac syndrome with thrombocytopenia, Skin cancer non melanoma childhood, Skin fragility woolly hair syndrome, Slavotinek Pike Mills Hurst syndrome, Slti Salem syndrome, Small cell lung cancer childhood, Small cell lung cancer adult, Small intestine cancer, Small intestine cancer childhood, Small non-cleaved cell lymphoma, Smallpox, Smith Martin Dodd syndrome, Smith McCort dysplasia, Smith-Lemli-Opitz syndrome type 1, Smith-Lemli-Opitz syndrome type 2, Smith-Magenis syndrome, Sneddon syndrome, Snowflake vitreoretinal degeneration, Snyder Robinson syndrome, Soft tissue sarcoma, Soft tissue sarcoma childhood, Sohval Soffer syndrome, Somatostatinoma, Sommer Hines syndrome, Sommer Rathbun Battles syndrome, Sommer Young Wee Frye syndrome, Sondheimer syndrome, Sonoda syndrome, Sosby syndrome, Sotos syndrome, Sparse hair ptosis mental retardation, Spasmodic dysphonia, Spastic angina with healthy coronary artery, Spastic ataxia Charlevoix-Saguenay type, Spastic diplegia infantile type, Spastic paraparesis, Spastic paraparesis deafness, Spastic paraplegia 1, Spastic paraplegia 10, Spastic paraplegia 11, Spastic paraplegia 12, Spastic paraplegia 13, Spastic paraplegia 14, Spastic paraplegia 15, Spastic paraplegia 16, Spastic paraplegia 17, Spastic paraplegia 18, Spastic paraplegia 19, Spastic paraplegia 2, Spastic paraplegia 20, Spastic paraplegia 23, Spastic paraplegia 24, Spastic paraplegia 25, Spastic paraplegia 26, Spastic paraplegia 29, Spastic paraplegia 3, Spastic paraplegia 31, Spastic paraplegia 39, Spastic paraplegia 4, Spastic paraplegia 5A, Spastic paraplegia 5B, Spastic paraplegia 6, Spastic paraplegia 7, Spastic paraplegia 8, Spastic paraplegia 9, Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation, Spastic paraplegia epilepsy mental retardation, Spastic paraplegia facial cutaneous lesions, Spastic paraplegia nephritis deafness, Spastic paraplegia neuropathy poikiloderma, Spastic paraplegia with precocious puberty, Spastic paresis glaucoma mental retardation, Spastic quadriplegia retinitis pigmentosa mental retardation, Spasticity mental retardation, Spasticity multiple exostoses, Spellacy gibbs watts syndrome, Spermatogenesis arrest, Spheroid body myopathy, Sphingolipidosis, Spiegler-Brooke syndrome, Spielmeyer-Vogt disease, Spina bifida, Spina bifida hypospadias, Spinal atrophy ophthalmoplegia pyramidal syndrome, Spinal bulbar motor neuropathy, Spinal cord neoplasm, Spinal dysostosis type Anhalt, Spinal intradural arachnoid cysts, Spinal muscular atrophy, Spinal muscular atrophy 1, Spinal muscular atrophy Ryukyuan type, Spinal muscular atrophy type 1 with congenital bone fractures, Spinal muscular atrophy type 2, Spinal muscular atrophy type 3, Spinal muscular atrophy type 4, Spinal muscular atrophy with respiratory distress 1, Spinal shock, Spine rigid cardiomyopathy, Spinocerebellar ataxia, Spinocerebellar ataxia 1, Spinocerebellar ataxia 10, Spinocerebellar ataxia 11, Spinocerebellar ataxia 12, Spinocerebellar ataxia 13, Spinocerebellar ataxia 14, Spinocerebellar ataxia 15, Spinocerebellar ataxia 17, Spinocerebellar ataxia 18, Spinocerebellar ataxia 19, Spinocerebellar ataxia 2, Spinocerebellar ataxia 20, Spinocerebellar ataxia 21, Spinocerebellar ataxia 23, Spinocerebellar ataxia 25, Spinocerebellar ataxia 26, Spinocerebellar ataxia 27, Spinocerebellar ataxia 28, Spinocerebellar ataxia 29, Spinocerebellar ataxia 3, Spinocerebellar ataxia 30, Spinocerebellar ataxia 31, Spinocerebellar ataxia 4, Spinocerebellar ataxia 5, Spinocerebellar ataxia 6, Spinocerebellar ataxia 7, Spinocerebellar ataxia 8, Spinocerebellar ataxia 9, Spinocerebellar ataxia autosomal recessive 1, Spinocerebellar ataxia autosomal recessive 3, Spinocerebellar ataxia autosomal recessive 4, Spinocerebellar ataxia autosomal recessive 5, Spinocerebellar ataxia autosomal recessive 6, Spinocerebellar ataxia autosomal recessive with axonal neuropathy, Spinocerebellar ataxia with dysmorphism, Spinocerebellar ataxia X-linked type 2, Spinocerebellar ataxia X-linked type 3, Spinocerebellar ataxia X-linked type 4, Spinocerebellar degeneration and corneal dystrophy, Spinocerebellar degenerescence book type, Spirochetes disease, Spirurida Infections, Spitz nevus, Spleen neoplasm, Splenic infarcts, Splenogonadal fusion limb defects micrognatia, Splenomegaly, Split hand foot malformation, Split hand foot malformation 1, Split hand split foot malformation autosomal recessive, Split hand split foot mandibular hypoplasia, Split hand split foot nystagmus, Split hand urinary anomalies spina bifida, Split hand/foot malformation X-linked, Spondylarthropathy, Spondylocamptodactyly, Spondylocarpotarsal synostosis syndrome, Spondylocostal dysostosis 1, Spondylocostal dysostosis 2, Spondylocostal dysostosis 3, Spondylocostal dysostosis 4, Spondyloenchondrodysplasia, Spondyloepimetaphyseal dysplasia Genevieve type, Spondyloepimetaphyseal dysplasia joint laxity, Spondyloepimetaphyseal dysplasia Matrilin-3 related, Spondyloepimetaphyseal dysplasia micromelic, Spondyloepimetaphyseal dysplasia Missouri type, Spondyloepimetaphyseal dysplasia Shohat type, Spondyloepimetaphyseal dysplasia Sponastrime type, Spondyloepimetaphyseal dysplasia Strudwick type, Spondyloepimetaphyseal dysplasia with hypotrichosis, Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia X-linked, Spondyloepimetaphyseal dysplasia x-linked with mental deterioration, Spondyloepimetaphyseal dysplasia Aggrecan type, Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia Maroteaux type, Spondyloepiphyseal dysplasia Omani type, Spondyloepiphyseal dysplasia tarda autosomal dominant, Spondyloepiphyseal dysplasia tarda progressive arthropathy, Spondyloepiphyseal dysplasia tarda Toledo type, Spondyloepiphyseal dysplasia tarda X-linked, Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech, Spondylohypoplasia arthrogryposis and popliteal pterygium, Spondylometaepiphyseal dysplasia short limb-hand type, Spondylometaphyseal dysplasia Algerian type, Spondylometaphyseal dysplasia axial, Spondylometaphyseal dysplasia corner fracture type, Spondylometaphyseal dysplasia East-African type, Spondylometaphyseal dysplasia Kozlowski type, Spondylometaphyseal dysplasia Sedaghatian type, Spondylometaphyseal dysplasia type A4, Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism, Spondylometaphyseal dysplasia with cone-rod dystrophy, Spondylometaphyseal dysplasia with dentinogenesis imperfecta, Spondylometaphyseal dysplasia X-linked, Spondyloperipheral dysplasia, Spondylospinal thoracic dysostosis, Spondylothoracic dysostosis, Spongiform encephalopathy, Spontaneous coronary artery dissection, Spontaneous periodic hypothermia, Spontaneous pneumothorax familial type, Sporotrichosis, Spotted fever, Spranger Schinzel Myers syndrome, Sprengel deformity, Squamous cell carcinoma of the head and neck, St Anthony's fire, Stachybotrys chartarum, Stalker Chitayat syndrome, Stampe sorensen syndrome, Staphylococcal food poisoning, Staphylococcal toxic shock syndrome, STAR syndrome, Stargardt disease, Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features, Status epilepticus, Steatocystoma multiplex, Steatocystoma multiplex with natal teeth, Steinfeld syndrome, Stenotrophomonas maltophilia, Sterility due to immotile flagella, Stern Lubinsky Durrie syndrome, Sternal cleft, Sternal cyst vascular anomalies, Sternal malformation vascular dysplasia associatio, Steroid dehydrogenase deficiency dental anomalies, Stevens-Johnson syndrome, Stewart Treves syndrome, Stickler syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stickler syndrome type 3, Stiff person syndrome, Stiff skin syndrome, Still's disease adult onset, Stocco dos Santos syndrome, Stoelinga de Koomen Davis syndrome, Stoll Alembik Dott syndrome, Stoll alembik finck syndrome, Stoll geraudel chauvin syndrome, Stoll kieny dott syndrome, Stomach cancer childhood, Stomach cancer familial, Stomach carcinoma, Stomatocytosis I, Stomatocytosis II, Storm syndrome, Stratton garcia young syndrome, Stratton Parker syndrome, Streptococcal Group A invasive disease, Streptococcal Group B invasive disease, Stress cardiomyopathy, Striatonigral degeneration infantile, Strongyloidiasis, Stuart factor deficiency congenital, Sturge-Weber syndrome, Stuve-Wiedemann syndrome, Subacute sclerosing panencephalitis, Subaortic stenosis short stature syndrome, Subcutaneous panniculitis-like T-cell lymphoma, Subependymal giant cell astrocytoma, Subependymal nodular heterotopia, Subependymoma, Subpulmonary stenosis, Subvalvular aortic stenosis, Succinic acidemia, Succinic acidemia lactic acidosis congenital, Succinic semialdehyde dehydrogenase deficiency, Succinyl-CoA acetoacetate transferase deficiency, Sudden Arrhythmia Death Syndrome, Sudden infant death syndrome, Sugarman brachydactyly, Sulfite oxidase deficiency, Summitt syndrome, SUNCT headache, Superficial siderosis of the central nervous system, Superficial spreading melanoma, Superior mesenteric artery syndrome, Superior vena cava syndrome, Supernumerary nipples, Supraglottic laryngeal cancer, Supranuclear ocular palsy, Supratentorial primitive neuroectodermal tumor, Supratentorial primitive neuroectodermal tumors childhood, Supraumbilical midabdominal raphe and facial cavernous hemangiomas, Susac syndrome, Sutton disease 2, Swyer James syndrome, Swyer syndrome, Sydenham's chorea, Symmastia, Symmetrical thalamic calcifications, Symphalangism brachydactyly, Symphalangism brachydactyly craniosynostosis, Symphalangism distal, Symphalangism familial proximal, Symphalangism short stature accessory testis, Symphalangism with multiple anomalies of hands and feet, Symphalangism distal with microdontia dental pulp stones and narrowed zygomatic arch, Syncamptodactyly scoliosis, Syndactyly cataract mental retardation, Syndactyly Cenani Lenz type, Syndactyly ectodermal dysplasia cleft lip palate hand foot, Syndactyly type 1, Syndactyly type 1 with cataracts and mental retardation, Syndactyly type 2, Syndactyly type 3, Syndactyly type 5, Syndactyly type 9, Syndactyly-polydactyly-earlobe syndrome, Syndesmodysplasic dwarfism, Syngnathia cleft palate, Syngnathia multiple anomalies, Synostoses tarsal carpal and digital, Synostosis of talus and calcaneus short stature, Synovial cancer, Synovial Chondromatosis, Synovial chondromatosis familial with dwarfism, Synovial sarcoma, Synovitis, Synovitis acne pustulosis hyperostosis osteitis, Syphilitic aseptic meningitis, Syphilitic myelopathy, Syringobulbia, Syringocystadenoma papilliferum, Syringomas natal teeth oligodontia, Syringomelia hyperkeratosis, Syringomyelia, Systemic candidiasis, Systemic capillary leak syndrome, Systemic mastocytosis, Systemic necrotizing angitis

Rare Diseases and Disorders - Starting With "T"

T cell immunodeficiency primary, T-cell immunodeficiency congenital alopecia and nail dystrophy, T-cell lymphoma 1A, T-Lymphocytopenia, Tabatznik syndrome, Tachycardia hypertension microphthalmia and hyperglycinuria, Takayasu arteritis, Talipes equinovarus, Talo-patello-scaphoid osteolysis synovitis and short fourth metacarpals, Talonavicular coalition, Tang Hsi Ryu syndrome, Tangier disease, TAR syndrome, Tarlov cysts, TARP syndrome, Tarsal carpal coalition syndrome, Tarsal tunnel syndrome, TAU syndrome, Taurodontia absent teeth sparse hair, Taurodontism, Taurodontism microdontia and dens invaginatus, Tay Sachs disease, Teebi Kaurah syndrome, Teebi Naguib Al Awadi syndrome, Teebi Shaltout syndrome, Teebi syndrome, Teeth noneruption of with maxillary hypoplasia and genu valgum, Tel Hashomer camptodactyly syndrome, Telencephalic leukoencephalopathy, Telfer Sugar Jaeger syndrome, Temporal arteritis, Temporal epilepsy familial, Temporomandibular ankylosis, Temtamy preaxial brachydactyly syndrome, Temtamy syndrome, Tendons extensor of fingers anomalous insertion of, Teratoma, Testicular cancer, Testicular cancer childhood, Testotoxicosis, Tetanus, Tetra-amelia syndrome, Tetraamelia multiple malformations X-linked, Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities, Tetraamelia with pulmonary hypoplasia, Tetrahydrobiopterin deficiency, Tetralogy of fallot and glaucoma, Tetraploidy, Tetrasomy X, Thai symphalangism syndrome, Thakker Donnai syndrome, Thalamic degeneration symmetrical infantile, Thalamic degeneration symmetric infantile, Thalassemia, Thanatophoric dysplasia Glasgow variant, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, Theodor Hertz Goodman syndrome, Thiamine responsive megaloblastic anemia syndrome, Thickened earlobes with conductive deafness from incus-stapes abnormalities, Thin ribs tubular bones dysmorphism, Thiolase deficiency, Thiopurine S methyltranferase deficiency, Thomas Jewett Raines syndrome, Thomas syndrome, Thompson Baraitser syndrome, Thoracic celosomia, Thoracic dysplasia hydrocephalus syndrome, Thoracic outlet syndrome, Thoraco abdominal enteric duplication, Thoraco limb dysplasia Rivera type, Thoracolaryngopelvic dysplasia, Thoracomelic dysplasia, Thoracopelvic dysostosis, Thost-Unna palmoplantar keratoderma, Three M syndrome, Thrombasthenia, Thrombocytopathy asplenia miosis, Thrombocytopenia 2, Thrombocytopenia cerebellar hypoplasia short stature, Thrombocytopenia essential, Thrombocytopenia Robin sequence, Thrombocytopenia with elevated serum IgA and renal disease, Thrombocytopenia acquired amegakaryocytic, Thrombocytopenia x-linked, Thrombomodulin anomalies familial, Thrombotic thrombocytopenic purpura acquired, Thrombotic thrombocytopenic purpura congenital, Thumb absence hypoplastic halluces, Thumb absent short stature immune deficiency, Thumb deformity, Thumb deformity alopecia pigmentation anomaly, Thumb stiff brachydactyly mental retardation, Thunderclap headache, Thymic epithelial tumor, Thymic hyperplasia, Thymic-Renal-Anal-Lung dysplasia, Thymoma childhood, Thyrocerebral-retinal syndrome, Thyroglossal tract cyst, Thyroid agenesis, Thyroid cancer anaplastic, Thyroid cancer childhood, Thyroid cancer follicular, Thyroid cancer Hurthle cell, Thyroid cancer medullary, Thyroid hormone plasma membrane transport defect, Thyrotoxic periodic paralysis, Thyrotropin deficiency isolated, Tibia absent polydactyly arachnoid cyst, Tibiae bowed radial anomalies osteopenia fracture, Tibial aplasia ectrodactyly hydrocephalus, Tibial hemimelia cleft lip palate, Tick paralysis, Tick-borne encephalitis, Tieche-Jadassohn nevus, Tietz syndrome, Tietze syndrome, Tight skin contracture syndrome lethal, Tiglic acidemia, Togaviridae disease, Tollner Horst Manzke syndrome, Tolosa Hunt syndrome, Tome Brunet Fardeau syndrome, Tongue cancer, Toni-Debre-Fanconi syndrome, Toni-Fanconi syndrome, Tonoki syndrome, TORCH syndrome, Torg Winchester syndrome, Toriello Carey syndrome, Torsion dystonia, Torsion dystonia with onset in infancy, Torticollis keloids cryptorchidism renal dysplasia, Torticollis familial, Total Hypotrichosis Mari type, Touraine Solente Gole syndrome, Townes-Brocks syndrome, Toxic epidermal necrolysis, Toxocariasis, Trabecular fiber myopathy, Tracheal agenesis, Tracheal agenesis without tracheoesophageal fistula, Tracheobronchomalacia, Tracheobronchomegaly, Tracheobronchopathia osteoplastica, Tracheoesophageal fistula, Tracheoesophageal fistula symphalangism, Tracheophageal fistula hypospadias, Trachoma, Tranebjaerg Svejgaard syndrome, Transaldolase deficiency, Transcobalamin 1 deficiency, Transient Acantholytic Dermatosis, Transient bullous dermolysis of the newborn, Transient erythroblastopenia of childhood, Transient global amnesia, Transient neonatal arthrogryposis, Transitional cell carcinoma, Transposition of the great arteries, Transverse limb deficiency hemangioma, Transverse myelitis, Treacher Collins syndrome, Treft Sanborn Carey syndrome, Trehalase deficiency, Tremor hereditary essential 1, Tremor hereditary essential 2, Tremors nystagmus and duodenal ulcers, Treponema infection, Trichinosis, Tricho odonto onycho dermal syndrome, Tricho odonto onychodysplasia syndactyly dominant type, Tricho onychic dysplasia, Tricho onycho hypohidrotic dysplasia, Tricho retino dento digital syndrome, Tricho-dento-osseous syndrome, Tricho-dento-osseous syndrome 1, Tricho-hepato-enteric syndrome, Trichodental syndrome, Trichodermodysplasia dental alterations, Trichodysplasia xeroderma, Trichoepithelioma multiple familial 1, Trichoepithelioma multiple familial 2, Trichofolliculoma, Trichomalacia, Trichomegaly cataract hereditary spherocytosis, Trichomegaly with mental retardation dwarfism and pigmentary degeneration of retina, Trichoodontoonychial dysplasia, Trichorhinophalangeal syndrome type 1, Trichorhinophalangeal syndrome type 2, Trichorhinophalangeal syndrome type 3, Trichorrhexis nodosa syndrome, Trichoscyphodysplasia, Trichostasis spinulosa, Trichothiodystrophy nonphotosensitive, Trichothiodystrophy photosensitive, Trichotillomania, Trichuriasis, Tricuspid atresia, Trigeminal neuralgia, Trigger thumb, Trigonocephaly bifid nose acral anomalies, Trigonocephaly ptosis mental retardation, Trigonomacrocephaly tibial defect polydactyly, Trihydroxycholestanoylcoa oxidase isolated deficiency, Trimethylaminuria, Triopia, Triose phosphate-isomerase deficiency, Triphalangeal thumb non opposable, Triphalangeal thumb polysyndactyly syndrome, Triphalangeal thumbs brachyectrodactyly, Triple A syndrome, Triploidy, Trismus-pseudocamptodactyly syndrome, Trisomy 1 mosaicism, Trisomy 11 mosaicism, Trisomy 12 mosaicism, Trisomy 13, Trisomy 17 mosaicism, Trisomy 2 mosaicism, Trisomy 3 mosaicism, Trisomy 6, Trochlea of the humerus aplasia of, Trochlear dysplasia, Trophoblastic tumor placental site, Tropical sprue, Trueb Burg Bottani syndrome, Trypanosomiasis Human East-African, Trypanosomiasis Human West-African, Tryptophanuria with dwarfism, Tsukahara Azuno Kajii syndrome, Tsukahara Kajii syndrome, Tuberculosis, Tuberculous meningitis, Tuberculous uveitis, Tuberous sclerosis, Tuberous sclerosis type 1, Tuberous sclerosis type 2, Tubulointerstitial nephritis and uveitis, Tucker syndrome, Tuffli Laxova syndrome, Tufted angioma, Tufted hair folliculitis, Tufting enteropathy, Tukel syndrome, Tularemia, Tungiasis, Tunglang Savage Bellman syndrome, Turcot syndrome, Turner syndrome, Twenty-nail dystrophy, Twin twin transfusion syndrome, Tylosis, Type 1 plasminogen deficiency, Typhoid fever, Typhus, Tyrosine-oxidase temporary deficiency, Tyrosinemia type 1, Tyrosinemia type 2, Tyrosinemia type 3

Rare Diseases and Disorders - Starting With "U"

Uhl anomaly, Ulerythema ophryogenesis, Ulna and fibula absence of with severe limb deficiency, Ulna and fibula hypoplasia, Ulna hypoplasia with mental retardation, Ulna metaphyseal dysplasia syndrome, Ulnar hypoplasia lobster claw deformity of feet, Ulnar-mammary syndrome, Umbilical cord ulceration and intestinal atresia, Uncombable hair syndrome, Uniparental disomy of 6, Uniparental disomy of 13, Uniparental disomy of chromosome 11, Uniparental disomy of chromosome 2, Uniparental disomy paternal chromosome 14, Unverricht-Lundborg disease, Upington disease, Upton Young syndrome, Urachal adenocarcinoma, Urachal cancer, Urachal cyst, Urea cycle disorders, Urethral cancer, Urethral obstruction sequence, Urioste Martinez-Frias syndrome, Urocanase deficiency, Urogenital adysplasia, Urogenital adysplasia hereditary, Uropathy distal obstructive polydactyly, Usher syndrome, Usher syndrome type 2A, Usher syndrome type 1, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome type 1D, Usher syndrome type 1E, Usher syndrome type 1F, Usher syndrome type 2B, Usher syndrome type 2C, Usher syndrome type 3, Usual interstitial pneumonia, Uterine sarcoma, Uveal diseases

Rare Diseases and Disorders - Starting With "V"

VACTERL association, VACTERL association with hydrocephaly X-linked, VACTERL hydrocephaly, Vacuolar myopathy, Vagina absence of, Vaginal cancer, Vagneur Triolle Ripert syndrome, Valinemia, Van Allen Myhre syndrome, Van Benthem-Driessen-Hanveld syndrome, Van Bogaert-Hozay syndrome, Van Buchem disease type 2, Van Den Bosch syndrome, Van der Woude syndrome, Van der Woude syndrome 2, Van Goethem syndrome, Van Maldergem Wetzburger Verloes syndrome, Van Regemorter Pierquin Vamos syndrome, Variant Creutzfeldt-Jakob disease, Varicella virus antenatal infection, Variegate porphyria, Vascular hyalinosis, Vascular malposition, Vasculopathy retinal with cerebral leukodystrophy, Vasquez Hurst Sotos syndrome, Vein of Galen aneurysm, Velocardiofacial syndrome, Velofacioskeletal syndrome, Venencie Powell Gordon Winkelmann syndrome, Venezuelan equine encephalitis, Ventricular extrasystoles perodactyly Robin sequence, Ventricular familial preexcitation syndrome, Ventricular fibrillation idiopathic, Ventricular septal defects, Ventriculo-arterial discordance isolated, Ventruto Digirolamo Festa syndrome, Verloes Bourguignon syndrome, Verloes Gillerot Fryns syndrome, Verloes Van Maldergem Marneffe syndrome, Verloove Vanhorick Brubakk syndrome, Vernal keratitis, Vernal keratoconjunctivitis, Verrucous nevus acanthokeratolytic, Vertebral body fusion overgrowth, Vertebral fusion posterior lumbosacral blepharoptosis, Vertical talus congenital, Vestibulocochlear dysfunction progressive, Vibratory angioedema, Vibrio vulnificus infection, Viljoen Kallis Voges syndrome, Viljoen Smart syndrome, Viljoen Winship syndrome, VIPoma, Viral hemorrhagic fever, Virilizing ovarian tumor, Virus associated hemophagocytic syndrome, Visceral myopathy familial with external ophthalmoplegia, Visceral neuropathy familial, Visceral steatosis, Viscero-atrial heterotaxia, Visual pathway and hypothalamic glioma childhood, Vitamin A embryopathy, Vitiligo mental retardation facial dysmorphism uremia, Vitreoretinal degeneration, Vitreoretinochoroidopathy dominant, VLCAD deficiency, Vocal cord dysfunction familial, Vogt-Koyanagi-Harada syndrome, Vohwinkel syndrome, Von Hippel-Lindau syndrome, Vulvar cancer, Vulvar Vestibulitis Syndrome

Rare Diseases and Disorders - Starting With "W"

Waaler Aarskog syndrome, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Waardenburg syndrome type 2B, Waardenburg syndrome type 3, Waardenburg syndrome type 4, Wagner syndrome, WAGR syndrome, Walbaum Titran Durieux Crepin syndrome, Waldenstrom macroglobulinemia, Waldmann disease, Walker Dyson syndrome, Walker-Warburg syndrome, Wallenberg syndrome, Wallerian degeneration, Wandering spleen, Warburg micro syndrome, Warfarin syndrome, Warm-reacting-antibody hemolytic anemia, Warman Mulliken Hayward syndrome, Warthin's tumor, Waterhouse-Friderichsen syndrome, Watermelon stomach, Watson syndrome, WDHA syndrome, Weaver Johnson syndrome, Weaver like syndrome, Weaver syndrome, Weaver Williams syndrome, Weber syndrome, Webster Deming syndrome, Wegener's granulomatosis, Wegmann Jones Smith syndrome, Weill-Marchesani syndrome, Weinstein Kliman Scully syndrome, Weissenbacher-Zweymuller syndrome, Welander distal myopathy Swedish type, Weleber Hecht Bigley syndrome, Wellesley Carmen French syndrome, Wells Jankovic syndrome, Wells syndrome, Werner's syndrome, Wernicke-Korsakoff syndrome, West nile encephalitis, West nile virus, West syndrome, Western equine encephalitis, Westphal disease, Weyers acrofacial dysostosis, Weyers ulnar ray/oligodactyly syndrome, WHIMS, Whipple disease, Whispering dysphonia hereditary, Whistling face syndrome recessive form, Whitaker syndrome, White forelock with malformations, White matter hypoplasia corpus callosum agenesia and mental retardation, White platelet syndrome, White sponge nevus of cannon, Whooping cough, Wieacker syndrome, Wiedemann Grosse Dibbern syndrome, Wiedemann Oldigs Oppermann syndrome, Wiedemann Opitz syndrome, Wildervanck syndrome, Wilkes Stevenson syndrome, Wilkie Taylor Scambler syndrome, Willems De vries syndrome, Williams syndrome, Wilms tumor and radial bilateral aplasia, Wilms' tumor, Wilson disease, Wilson-Mikity syndrome, Wilson-Turner X-linked mental retardation syndrome, Windblown hand, Winkelman Bethge Pfeiffer syndrome, Winship Viljoen Leary syndrome, Winter Harding Hyde syndrome, Wisconsin syndrome, Wiskott Aldrich syndrome, Witkop syndrome, Wittwer syndrome, Wolf-Hirschhorn syndrome, Wolff-Parkinson-White syndrome, Wolffian tumor, Wolfram syndrome, Wolman disease, Woodhouse Sakati syndrome, Woods Black Norbury syndrome, Woolly hair hypotrichosis everted lower lip and outstanding ears, Woolly hair syndrome, Worster Drought syndrome, Wright Dyck syndrome, Wrinkly skin syndrome, WT limb blood syndrome, Wyburn Mason's syndrome

Rare Diseases and Disorders - Starting With "X"

X chromosome monosomy Xp22 pter, X chromosome monosomy Xq28, X chromosome trisomy Xq, X-linked adrenal hypoplasia congenita, X-linked agammaglobulinemia, X-linked hypohidrotic ectodermal dysplasia, X-linked ichthyosis, X-linked mental retardation and macro-orchidism, X-linked mental retardation craniofacial abnormal microcephaly club, X-linked mental retardation De silva type, X-linked mental retardation Gustavson type, X-linked mental retardation type Martinez, X-linked mental retardation type Raynaud, X-linked mental retardation type Schutz, X-linked mental retardation type Wittwer, X-linked periventricular heterotopia, X-linked severe combined immunodeficiency, Xanthinuria type 1, Xanthinuria type 2, Xanthogranulomatous cholecystitis, Xanthogranulomatous sialadenitis, Xeroderma pigmentosum, Xeroderma pigmentosum type 7, Xeroderma pigmentosum type 1, Xeroderma pigmentosum type 2, Xeroderma pigmentosum type 3, Xeroderma pigmentosum type 5, Xeroderma pigmentosum type 6, Xeroderma pigmentosum type 9, Xeroderma pigmentosum variant type, Xeroderma talipes enamel defects, XFE progeroid syndrome, XK aprosencephaly, XY Female

Rare Diseases and Disorders - Starting With "Y"

Y chromosome deletions, Y chromosome pericentric inversion, Yaws, Yellow fever, Yellow nail syndrome, Yemenite deaf-blind hypopigmentation syndrome, Yolk sac tumor, Yorifuji Okuno syndrome, Young Hughes syndrome, Young Simpson syndrome, Young syndrome, Yunis Varon syndrome, Yusho Disease

Rare Diseases and Disorders - Starting With "Z"

Zadik Barak Levin syndrome, ZAP-70 deficiency, Zazam Sheriff Phillips syndrome, Zechi Ceide syndrome, Zellweger syndrome, Zerres Rietschel Majewski syndrome, Zlotogora syndrome, Zollinger-Ellison syndrome, Zori Stalker Williams syndrome, Zunich neuroectodermal syndrome, Zuska's disease, Zygomycosis

Rare Diseases and Disorders – Starting with "Numbers"

11-beta-hydroxylase deficiency, 15q13.3 microdeletion syndrome, 16p11.2 deletion syndrome, 17-alpha-hydroxylase deficiency, 17-beta hydroxysteroid dehydrogenase 3 deficiency, 17q21.31 microdeletion syndrome, 18 Hydroxylase deficiency, 1q21.1 microdeletion syndrome, 2 4-Dienoyl-CoA reductase deficiency, 2-hydroxyethyl methacrylate sensitization, 2-Hydroxyglutaric aciduria, 2-methyl-3-hydroxybutyric aciduria, 2-Methylacetoacetyl CoA thiolase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, 21-hydroxylase deficiency, 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q13.3 deletion syndrome, 2q37 deletion syndrome, 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency, 3 Methylcrotonyl-CoA carboxylase 1 deficiency, 3 methylglutaconic aciduria type I, 3 methylglutaconic aciduria type IV, 3 methylglutaconic aciduria type V, 3-alpha hydroxyacyl-CoA dehydrogenase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, 3-Hydroxyisobutyric aciduria, 3-methylglutaconic aciduria type III, 3p deletion syndrome, 4-hydroxyphenylacetic aciduria, 46 XX Gonadal dysgenesis epibulbar dermoid, 46 XX testicular disorder of sex development, 47 XXX syndrome, 47 XYY syndrome, 49 XXXXX syndrome, 5-Nucleotidase syndrome, 5-oxoprolinase deficiency, 5q- syndrome, 6 alpha mercaptopurine sensitivity, 6-pyruvoyl-tetrahydropterin synthase deficiency, 8p23.1 duplication syndrome

SOURCE R.A.R.E. Project

Gene Therapy - Technologies, Markets and Companies

Wed, 01 Feb 2012 10:42:55 +0000

Gene Therapy - Technologies, Markets and Companies

PR Newswire

NEW YORK, Feb. 1, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Gene Therapy - technologies, markets and companies

http://www.reportlinker.com/p0203543/Gene-Therapy---technologies-markets-and-companies.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Biological_Therapy

Gene therapy can be broadly defined as the transfer of defined genetic material to specific target cells of a patient for the ultimate purpose of preventing or altering a particular disease state. Genes and DNA are now being introduced without the use of vectors and various techniques are being used to modify the function of genes in vivo without gene transfer. If one adds to this the cell therapy particularly with use of genetically modified cells, the scope of gene therapy becomes much broader. Gene therapy can now combined with antisense techniques such as RNA interference (RNAi), further increasing the therapeutic applications. This report takes broad overview of gene therapy and is the most up-to-date presentation from the author on this topic built-up from a series of gene therapy report written by him during the past decade including a textbook of gene therapy and a book on gene therapy companies. This report describes the setbacks of gene therapy and renewed interest in the topic

Gene therapy technologies are described in detail including viral vectors, nonviral vectors and cell therapy with genetically modified vectors. Gene therapy is an excellent method of drug delivery and various routes of administration as well as targeted gene therapy are described. There is an introduction to technologies for gene suppression as well as molecular diagnostics to detect and monitor gene expression.

Clinical applications of gene therapy are extensive and cover most systems and their disorders. Full chapters are devoted to genetic syndromes, cancer, cardiovascular diseases, neurological disorders and viral infections with emphasis on AIDS. Applications of gene therapy in veterinary medicine, particularly for treating cats and dogs, are included.

Research and development is in progress in both the academic and the industrial sectors. The National Institutes of Health (NIH) of the US is playing an important part. As of 2011, over 2030 clinical trials have been completed, are ongoing or have been approved worldwide.A breakdown of these trials is shown according to the areas of application.

Since the death of Jesse Gelsinger in the US following a gene therapy treatment, the FDA has further tightened the regulatory control on gene therapy. A further setback was the reports of leukemia following use of retroviral vectors in successful gene therapy for adenosine deaminase deficiency. Several clinical trials were put on hold and many have resumed now. The report also discusses the adverse effects of various vectors, safety regulations and ethical aspects of gene therapy including germline gene therapy.

The markets for gene therapy are difficult to estimate as there is only one approved gene therapy product and it is marketed in China since 2004. Gene therapy markets are estimated for the years 2011-2021. The estimates are based on epidemiology of diseases to be treated with gene therapy, the portion of those who will be eligible for these treatments, competing technologies and the technical developments anticipated in the next decades. In spite of some setbacks, the future for gene therapy is bright.The markets for DNA vaccines are calculated separately as only genetically modified vaccines and those using viral vectors are included in the gene therapy markets

The voluminous literature on gene therapy was reviewed and selected 700 references are appended in the bibliography.The references are constantly updated. The text is supplemented with 72 tables and 13 figures.

Profiles of 186 companies involved in developing gene therapy are presented along with 188 collaborations. There were only 44 companies involved in this area in 1995. In spite of some failures and mergers, the number of companies has increased more than 4-fold within a decade. These companies have been followed up since they were the topic of a book on gene therapy companies by the author of this report. John Wiley & Sons published the book in 2000 and from 2001 to 2003, updated versions of these companies (approximately 160 at mid-2003) were available on Wiley's web site. Since that free service was discontinued and the rights reverted to the author, this report remains the only authorized continuously updated version on gene therapy companies.

TABLE OF CONTENTS

0. Executive Summary 19

1. Introduction 21

Definitions 21

Historical evolution of gene therapy 21

Relation of gene therapy to other biotechnologies 23

Molecular biological basics for gene therapy 23

Genome 23

DNA 24

RNA 24

Alternative RNA splicing 25

Genes 26

Gene regulation 26

Gene expression 28

Chromosomes 28

Telomeres 29

Mitochondrial DNA 29

Proteins 30

2. Gene Therapy Technologies 31

Classification of gene therapy techniques 31

Ex vivo and in vivo gene therapy 32

Ex vivo gene therapy 32

In vivo gene therapy 33

Physical methods of gene transfer 33

Electroporation 33

Applications of electroporation 34

Clinical applications of electroporation 35

Advantages of electroporation 35

Limitations of electroporation 36

Hydrodynamic 36

Microinjection 36

Particle bombardment 37

Ultrasound-mediated transfection 39

Molecular vibration 39

Application of pulsed magnetic field and superparamagnetic nanoparticles 39

Gene transfection using laser irradiation 40

Photochemical transfection 40

Chemical methods of gene transfer 41

Gene repair and replacement 41

Gene repair by single-stranded oligonucleotides 41

History and current status of chimeraplasty 42

mRNA gene therapy 42

Spliceosome mediated RNA trans-splicing 42

Vectors for gene therapy 43

Basic considerations 43

Use of genes as pharmaceuticals 44

The ideal vector for gene therapy 44

Viral vectors 45

Adenovirus vectors 46

Adeno-associated virus vectors 48

Alphavirus vectors 50

Baculovirus vectors 50

Foamy virus vectors 51

Herpes simplex virus vectors 51

Lentiviral vectors 53

Multicistronic retroviral vectors 54

Retroviral vectors 55

Oncogenic potential of retroviral vectors 56

Future prospects of viral vectors 57

Companies using viral vectors 57

Nonviral vectors for gene therapy 59

Anionic lipid-DNA complexes 59

Cationic lipid-DNA complexes 60

Effects of shape of DNA molecules on delivery with nonviral vectors 60

Electrostatic modifications of surface to improve gene delivery 60

Liposomes for gene therapy 61

Liposome-nucleic acid complexes 62

Liposome-HVJ complex 63

Transposons DNA vectors 63

Polycation-DNA complexes (polyplexes) 64

Plasmid DNA vector for treatment of chronic inflammatory disease 65

Polymer molecules 65

Synthetic biology and DNA vectors 65

Synthetic peptide complexes 66

Future prospects of nonviral vs viral vectors 66

Nanobiotechnology for gene therapy 66

Antisense nanoparticles for gene regulation 67

Biological nanoparticle technology 67

Dendrimers 67

Cochleates 67

Calcium phosphate nanoparticles as nonviral vectors 68

Gelatin nanoparticles for gene delivery 68

Lipid nanoparticles for nucleic acid delivery 69

Nanoparticles as nonviral vectors for gene therapy 69

Nanoparticles with virus-like function as gene therapy vectors 70

Nanobiolistics for nucleic acid delivery 70

Nonionic polymeric micelles for oral gene delivery 70

Silica nanoparticles as a nonviral vector for gene delivery 71

Receptor-mediated endocytosis 71

Artificial viral vectors 72

Directed evolution of AAV to create efficient gene delivery vectors 73

Bacterial ghosts as DNA delivery systems 73

Bacteria plus nanoparticles for gene delivery into cells 73

Chromosome-based vectors for gene therapy 74

Mammalian artificial chromosomes (MACs) 75

Artificial Chromosome Expression (ACE) 75

Human artificial chromosomes (HACs) 75

?C31 integrase system 76

Companies using nonviral vectors 76

Concluding remarks about vectors 77

Cell-mediated gene therapy 78

Fibroblasts 79

Skeletal muscle cells 79

Vascular smooth muscle cells 80

Keratinocytes 80

Hepatocytes 80

Lymphocytes 81

Regulating protein delivery by genetically encoded lymphocytes 81

Implantation of microencapulated genetically modified cells 81

Stem cell gene therapy 82

Therapeutic applications for hematopoietic stem cell gene transfer 82

Improving delivery of genes to stem cells 83

Lentiviral vectors for gene transfer to marrow stem cells 83

Use of mesenchymal stem cells for gene therapy 83

Microporation for transfection of MSCs 83

In utero gene therapy using stem cells 84

Gene delivery to stem cells by artificial chromosome expression 84

Linker based sperm-mediated gene transfer technology 84

Combination of gene therapy with therapeutic cloning 84

Expansion of transduced HSCs in vivo 85

The future of hematopoietic stem cell gene therapy 85

Routes of administration for gene therapy 85

Direct injection of naked DNA 86

Intramuscular injection 86

Intravenous DNA injection 86

Intraarterial delivery 87

Companies with gene delivery devices/ technologies 87

Targeted gene therapy 88

Targeted integration 88

Bacteriophage integrase system for site-specific gene delivery 89

Controlled-release delivery of DNA 89

Controlled gene therapy 90

Controlled delivery of genetic material 90

Controlled induction of gene expression 90

Drug-inducible systems for control of gene expression 91

Timed activation of gene therapy by a circuit based on signaling network 91

Small molecules for post-transcriptional regulation of gene expression 91

Engineered zinc finger DNA binding proteins for gene correction 92

Light Activated Gene Therapy 92

Spatial control of gene expression via local hyperthermia 92

Companies with regulated /targeted gene therapy 93

Gene marking 94

Germline gene therapy 94

Potential applications of human germline genome modification 94

Pros and cons of human germline genome modification 95

Role of gene transfer in antibody therapy 96

Genetically engineered vaccines 96

DNA vaccines 97

DNA inoculation technology 97

Methods for enhancing the potency of DNA vaccines 98

Advantages of DNA vaccines 98

Vaccine vectors 98

Challenges and limitations of genetically engineered vaccines 99

Vaccines based on reverse genetics 100

Technologies for gene suppression 100

Antisense oligonucleotides 100

Transcription factor decoys 101

Aptamers 102

Ribozymes 102

Peptide nucleic acid 102

Intracellular delivery of PNAs 102

Locked nucleic acid 103

Zorro-LNA 103

Gene silencing 103

Post-transcriptional gene silencing 104

Definitions and terminology of RNAi 104

RNAi mechanisms 104

Inhibition of gene expression by antigene RNA 105

RNAi gene therapy 106

microRNA gene therapy 106

Application of molecular diagnostic methods in gene therapy 106

Use of PCR to study biodistribution of gene therapy vector 107

PCR for verification of the transcription of DNA 107

In situ PCR for direct quantification of gene transfer into cells 107

Detection of retroviruses by reverse transcriptase (RT)-PCR 108

Confirmation of viral vector integration 108

Monitoring of gene expression 108

Monitoring of gene expression by green fluorescent protein 108

Monitoring in vivo gene expression by molecular imaging 109

Advantages of gene therapy compared with protein therapy 109

3. Clinical Applications of Gene Therapy 111

Introduction 111

Bone and joint disorders 111

Bone fractures 111

Gene therapy for intervertebral disc degeneration 112

Spinal fusion 112

Osteogenesis imperfecta 113

Rheumatoid arthritis 113

Local or systemic treatment 114

In vivo or ex vivo gene therapy of RA 114

Clinical trials 115

Gene therapy for osteoarthritis 116

Sports injuries 117

Repair of articular cartilage defects 117

Regeneration and replacement of bone by gene therapy 118

Bacterial infections 119

Antisense approach to bacterial infections 119

Dentistry 119

Tissue engineering in dental implant defects 119

Endocrine and metabolic disorders 120

Introduction 120

Gene therapy of obesity 120

Ad viral vector-mediated transfer of leptin gene 120

AAV vector-mediated delivery of GDNF for obesity 121

Diabetes mellitus 121

Methods of gene therapy of diabetes mellitus 122

Viral vector-mediated gene transfer in diabetes 122

Gene delivery with ultrasonic microbubble destruction technology 123

Genetically engineered cells for diabetes mellitus 123

Genetically altered liver cells 124

Genetically modified stem cells 124

Genetically engineered dendritic cells 124

Insertion of gene encoding for IL-4 124

Leptin gene therapy 125

Concluding remarks about cell and gene therapy of diabetes 125

Gene therapy of growth-hormone deficiency 126

Gastrointestinal disorders 126

Introduction 126

Methods of gene transfer to the gastrointestinal tract 127

Direct delivery of genes 127

Naked plasmid DNA into the submucosa 127

Viral vectors 127

Receptor-mediated endocytosis 128

Indications for gastrointestinal gene therapy 128

Gene therapy for inflammatory disorders of the bowel 128

Gene transfer to the salivary glands 129

Potential clinical applications of salivary gene therapy 130

Hematology 130

Hemophilias 130

Gene therapy of hemophilia 131

Hemophilia A 131

Hemophilia B 132

Concluding remarks about gene therapy of hemophilias 133

Hemoglobinopathies 133

Stem cell-based gene therapy and RNAi for sickle cell disease 134

Gene therapy for ?-thalassemia 135

Gene therapy of Fanconi's anemia 136

Acquired hematopoietic disorders 136

Chronic acquired anemias 137

Neutropenia 137

Thrombocytopenia 138

Concluding remarks about gene therapy of hemoglobinopathies 139

Companies involved in gene thery of hematological disorders 139

In utero/fetal gene therapy 139

Fetal gene transfer techniques 140

Animal models of fetal gene therapy 141

Potential applications of fetal gene therapy 141

Fetal gene therapy for cystic fibrosis 141

Fetal intestinal gene therapy 142

Hearing disorders 142

Potential of gene therapy 142

Vectors for gene therapy of hearing disorders 143

Auditory hair cell replacement and hearing improvement by gene therapy 143

Kidney diseases 144

End-stage renal disease 144

Methods of gene delivery to the kidney 144

Gene transfer into kidney by adenoviral vectors 145

Non-viral gene transfer to the kidneys 145

Gene transfer into the glomerulus by HVJ-liposome 145

Bone marrow stem cells for renal disease 145

Mesangial cell therapy 146

Liposome-mediated gene transfer into the tubules 146

Gene transfer to tubules with cationic polymer polyethylenimine 146

Gene therapy in animal experimental models of renal disease 147

Genetic manipulations of the embryonic kidney 147

Antisense intervention in glomerulonephritis 147

Gene therapy for renal fibrosis 148

Use of genetically engineered cells for uremia due to renal failure 148

Concluding remarks 149

Liver disorders 149

Techniques of gene delivery to liver 150

Direct injection of DNA into liver 150

Local gene delivery by isolated organ perfusion 150

Liposome-mediated direct gene transfer 150

Retroviral vector for gene transfer to liver 151

Adenoviral vectors for gene transfer to liver 151

Receptor-mediated approach 151

Cell therapy for liver disorders 151

Transplantation of genetically modified hepatocytes 152

Genetically modified hematopoietic stem cells 152

Gene therapy by ex vivo transduced liver progenitor cells 152

Gene therapy of genetic diseases affecting the liver 153

Crigler-Najjar syndrome 153

Hereditary tyrosinemia type I (HT1) 153

Hereditary tyrosinemia type 3 153

Gene therapy of acquired diseases affecting the liver 154

Cirrhosis of liver 154

Ophthalmic disorders 154

Introduction to gene therapy of ophthalmic disorders 154

Degenerative retinal disorders 155

Age-related macular degeneration 155

Inherited retinal degenerations 157

Inherited disorders affecting vision 157

Gene therapy for color blindness 157

Leber congenital amaurosis 158

Retinitis pigmentosa 159

Stargardt disease 160

Usher syndrome 160

X-linked juvenile retinoschisis 160

Proliferative retinopathies 161

Methods of gene transfer to retinal cells 161

DNA nanoparticles for nonviral gene transfer to the eye 162

Prevention of complications associated with eye surgery 162

Prevention of proliferative retinopathy by gene therapy 162

DNA nanoparticles for gene therapy of retinal degenerative disorders 163

Posterior capsule opacification after cataract surgery 163

Autoimmune uveitis 163

Retinal ischemic injury 164

Corneal disorders 164

Glaucoma 165

Disorders of hearing 165

Gene therapy for hearing loss 165

Organ transplantation 166

Introduction 166

DNA vaccines for transplantation 166

Gene therapy for prolonging allograft survival 166

Gene therapy in lung transplantation 167

Role of gene therapy in liver transplantation 167

Gene therapy in kidney transplantation 167

Veto cells and transplant tolerance 168

Pulmonary disorders 168

Techniques of gene delivery to the lungs 169

Adenoviral vectors 169

Non-viral vectors 170

Aerosolization as an aid to gene transfer to lungs. 170

Cystic fibrosis 170

Genetics and clinical features 170

Gene therapy for CF 171

CFTR gene transfer in CF 171

Concluding remarks about gene therapy of CF 172

Miscellaneous pulmonary disorders 173

Gene therapy for pulmonary arterial hypertension 173

Gene therapy for bleomycin-induced pulmonary fibrosis 174

Pulmonary complications of a1-antitrypsin deficiency 174

Gene therapy for asthma 175

Gene therapy for adult respiratory distress syndrome 176

Gene therapy for lung injury 176

Gene therapy for bronchopulmonary dysplasia 176

Concluding remarks about gene therapy of lungs 177

Companies involved in pulmonary gene therapy 177

Skin and soft tissue disorders 178

Gene transfer to the skin 178

Electroporation for transdermal delivery of plasmid DNA 178

Electroporation for transdermal delivery of DNA vaccines 178

Liposomes for transdermal gene delivery 179

Ultrasound and topical gene therapy 179

Gene therapy in skin disorders 179

Gene therapy of hair loss 179

Gene therapy for xeroderma pigmentosa 180

Gene therapy for lamellar ichthyosis 180

Gene therapy for epidermolysis bullosa 180

Gene transfer techniques for wound healing 181

Urogenital disorders 182

Gene therapy for urinary tract dysfunction 182

Gene therapy for erectile dysfunction 182

NOS gene transfer for erectile dysfunction 182

Clinical trial of hMaxi-K Gene transfer in erectile dysfunction 182

Gene therapy for erectile dysfunction due to nerve injury 183

Concluding remarks on gene therapy for erectile dysfunction 183

Veterinary gene therapy 183

Gene therapy for mucopolysaccharidosis VII in dogs 184

Gene therapy to increase disease resistance 184

Gene therapy for infections 184

Gene therapy for chronic anemia 185

Gene therapy for endocrine disorders 185

Gene therapy for arthritis 185

Cancer gene therapy 186

Brain tumors in cats and dogs 186

Breast cancer in dogs 187

Canine hemangiosarcoma 187

Canine melanoma 188

Canine soft tissue sarcoma 188

Melanoma in horses 188

4. Gene Therapy of Genetic Disorders 189

Introduction 189

Primary immunodeficiency disorders 190

Severe combined immune deficiency 191

Chronic granulomatous disease 193

Wiskott-Aldrich syndrome 193

Purine nucleoside phosphorylase deficiency 194

Major histocompatibility class II deficiency 194

Future prospects of gene therapy of inherited immunodeficiencies 195

Metabolic disorders 195

Adrenoleukodystrophy 196

Canavan disease 196

Lesch-Nyhan syndrome 197

LPL deficiency 197

Ornithine transcarbamylase deficiency 198

Phenylketonuria 198

Porphyrias 199

Tetrahydrobiopterin deficiency 199

Lysosomal storage disorders. 200

Batten disease 201

Fabry's disease 201

Farber's disease 202

Gaucher disease 202

Animals models of Gaucher's disease 202

Gene therapy of Gaucher's disease 203

Hunter syndrome 204

Combination of cell and gene therapy for Krabbe's disease 204

Metachromatic leukodystrophy 205

Mucopolysaccharidosis type 1 (Hurler syndrome) 205

Niemann-Pick type A disease 206

Pompe disease 206

Sanfilippo A syndrome 207

Sly syndrome 207

Tay-Sachs disease 207

Future prospects of gene therapy of lysosomal storage disorders 208

Trinucleotide repeat disorders 208

Muscular dystrophies 208

Duchenne muscular dystrophy (DMD) 208

Animal models for gene therapy of DMD 209

Antisense approach to DMD 209

Exon-skipping technology for DMD 210

Liposome-mediated gene transfer 210

Myoblast-based gene transfer in DMD 211

Plasmid-mediated gene therapy 211

Post-transcriptional modulation of gene expression in DMD 211

Repair of dystrophin gene 212

Routes of administration of gene therapy in DMD 212

Types of dystrophin constructs 212

Viral vectors for DMD 213

Conclusions and future prospects of gene therapy of DMD 214

Limb-girdle muscular dystrophy 215

Myotonic dystrophy 215

Spinal muscular atrophy 216

Antisense gene therapy of SMA 216

Hereditary neuropathies 216

Charcot-Marie-Tooth disease 216

Hereditary axonal neuropathies of the peripheral nerves 217

Gene therapy of mitochondrial disorders 217

Companies involved in gene therapy of genetic disorders 218

5. Gene Therapy of Cancer 219

Strategies for cancer gene therapy 219

Direct gene delivery to the tumor 220

Injection into tumor 220

Direct injection of adenoviral vectors 220

Direct injection of a plasmid DNA-liposome complex 221

A polymer approach to local gene therapy for cancer 221

Electroporation for cancer gene therapy 221

Control of gene expression in tumor by local heat 222

Radiation-guided gene therapy of cancer 222

Radioprotective gene therapy 223

Nanoparticles to facilitate combination of hyperthermia and gene therapy 223

Cell-based cancer gene therapy 223

Adoptive cell therapy 224

Cytokine gene therapy 224

Genetic modification of human hematopoietic stem cells 227

Immunogene therapy 227

Cancer vaccines 228

Genetically modified cancer cell vaccines 228

GVAX cancer vaccines 228

Genetically modified dendritic cells 229

Nucleic acid-based cancer vaccines 230

DNA cancer vaccines 230

RNA vaccines 230

Viral vector-based cancer vaccines 230

Intradermal delivery of cancer vaccines by Ad vectors 231

Future prospects of cancer vaccines 231

Companies involved in nucleic acid-based cancer vaccines 231

Monoclonal antibody gene transfer for cancer 232

Transfer and expression of intracellular adhesion-1 molecules 233

Other gene-based techniques of immunotherapy of cancer 233

Fas (Apo-1) 233

Chemokines 233

Major Histocompatibility Complex (MHC) Class I 234

IGF (Insulin-Like Growth Factor) 234

Inhibition of immunosuppressive function in cancer 234

Delivery of toxic genes to tumor cells for eradication 235

Gene-directed enzyme prodrug therapy 235

Combination of gene therapy with radiotherapy 235

Correction of genetic defects in cancer cells 236

Targeted gene therapy for cancer 236

Antiangiogenic therapy for cancer 236

Bacteria as novel anticancer gene vectors 237

Cancer-specific gene expression 238

Cancer-specific transcription 238

Delivery of retroviral particles hitchhiking on T cells 238

Electrogene and electrochemotherapy 239

Epidermal growth factor-mediated DNA delivery 239

Gene-based targeted drug delivery to tumors 239

Gene expression in hypoxic tumor cells 240

Genetically modified T cells for targeting tumors 240

Genetically engineered stem cells for targeting tumors 241

Hematopoietic stem cells for targeted cancer gene therapy 242

Immunolipoplex for delivery of p53 gene 243

Nanomagnets for targeted cell-based cancer gene therapy 243

Nanoparticles for targeted site-specific delivery of anticancer genes 243

Targeted cancer therapy using a dendrimer-based synthetic vector 244

Tumor-targeted gene therapy by receptor-mediated endocytosis 244

Virus-mediated oncolysis 244

Cancer terminator virus 244

Cytokine-induced killer cells for delivery of an oncolytic virus 245

Monitoring of viral-mediated oncolysis by PET 246

Oncolytic HSV 246

Oncolytic adenoviruses 246

Oncolytic vesicular stomatitis virus 248

Oncolytic paramyxovirus 248

Oncolytic vaccinia virus 248

Targeted cancer treatments based on oncolytic viruses 248

Concluding remarks on oncolytic gene therapy 249

Companies developing oncolytic viruses 249

Apoptotic approach to improve cancer gene therapy 250

Tumor suppressor gene therapy 250

P53 gene therapy 250

BRIT1 gene therapy 251

Nitric oxide-based cancer gene therapy 251

Nitric oxide synthase II DNA injection 251

Gene therapy for radiosensitization of cancer 251

Gene therapy of cancer of selected organs 252

Gene therapy for bladder cancer 252

Gene therapy for glioblastoma multiforme. 252

Adenoviral vectors for treatment of brain tumors 254

Antiangiogenic gene therapy 254

Autophagy induced by conditionally replicating adenoviruses 255

Baculovirus vector for diphtheria toxin gene therapy 255

Cerepro® (sitimagene ceradenovec) 255

Gene therapy targeting hepatocyte growth factor 256

Genetically engineered MSCs for gene delivery to intracranial gliomas 256

Intravenous gene delivery with nanoparticles into brain tumors 256

Ligand-directed delivery of dsRNA molecules targeted to EGFR 256

RNAi gene therapy of brain cancer 257

Targeting normal brain cells with an AAV vector encoding interferon-? 257

Viral oncolysis of brain tumors 258

Gene therapy for breast cancer 258

Gene vaccine for breast cancer 259

Recombinant adenoviral ErbB-2/neu vaccine 259

Gene Therapy for ovarian cancer 260

Gene therapy for malignant melanoma 261

Gene therapy of lung cancer 263

Intravenous nanoparticle formulation for delivery of FUS1 gene 263

Aerosol gene delivery for lung cancer 263

Gene therapy for cancer of prostate 264

Experimental studies 264

Nanoparticle-based gene therapy for prostate cancer 264

Tumor suppressor gene therapy in prostate cancer 264

Vaccines for prostate cancer 265

Clinical trials 265

Gene therapy of head and neck cancer 266

Adenoviral vector based P53 gene therapy 266

Gene therapy of pancreatic cancer 266

Rexin-G? for targeted gene delivery in cancer 267

Targeted Expression of BikDD gene 267

Concluding remarks on gene therapy of pancreatic cancer 267

Cancer gene therapy companies 267

6. Gene Therapy of Neurological Disorders 271

Indications 271

Gene transfer techniques for the nervous system 272

Methods of gene transfer to the nervous system 272

Ideal vector for gene therapy of neurological disorders 272

Promoters of gene transfer 272

Lentivirus-mediated gene transfer to the CNS 273

AAV vector mediated gene therapy for neurogenetic disorders 273

Gene transfer to the CNS using recombinant SV40-derived vectors 274

Routes of delivery of genes to the CNS 274

Direct injection into CNS 274

Introduction of the genes into cerebral circulation 275

Introduction of genes into cerebrospinal fluid 275

Intravenous administration of vectors 275

Delivery of gene therapy to the peripheral nervous system 276

Cell-mediated gene therapy of neurological disorders 276

Neuronal cells 276

Neural stem cells and progenitor cells 276

Astrocytes 277

Cerebral endothelial cells 277

Implantation of genetically modified encapsulated cells into the brain 277

Gene therapy of neurodegenerative disorders 277

Gene therapy for Parkinson disease 277

Rationale 278

Techniques of gene therapy for PD 279

Delivery of neurotrophic factors by gene therapy 282

Delivery of parkin gene 283

Introduction of functional genes into the brain of patients with PD 283

Nanoparticle-based gene therapy for PD 283

Mitochondrial gene therapy for PD 283

RNAi approach to PD 284

Prospects of gene therapy for PD 284

Companies developing gene therapy for PD 285

Gene therapy for Alzheimer disease 286

Rationale 286

NGF gene therapy for AD 286

FGF2 gene transfer in AD 287

Neprilysin gene therapy 288

Targeting plasminogen activator inhibitor type-1 gene 288

Gene vaccination 288

Combination of gene therapy with other treatments for AD 289

Gene therapy of Huntington disease 289

Encapsulated genetically engineered cellular implants 289

Viral vector mediated administration of neurotrophic factors 289

RNAi gene therapy 290

Gene therapy of amyotrophic lateral sclerosis 290

Rationale 290

Technique of gene therapy of ALS 290

Gene therapy of cerebrovascular diseases 291

Preclinical research in gene therapy for cerebrovascular disease 291

Animal models of stroke relevant to gene therapy 292

Transgenic mice as models for stroke 292

Animal models for gene therapy of arteriovenous malformations 292

Gene transfer to cerebral blood vessels 293

Gene therapy for vasospasm following subarachnoid hemorrhage 294

NOS gene therapy for cerebral vasospasm 294

Gene therapy for stroke 295

Gene therapy for stroke using neurotrophic factors 296

Gene therapy of strokes with a genetic component 296

Gene therapy for intracranial aneurysms 297

RNAi-based gene silencing for neuroprotection in cerebral ischemia 297

Concluding remarks about gene therapy for stroke 297

Gene therapy of injuries to the nervous system 298

Traumatic brain injury 298

Spinal cord injury 29

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Nicolas Bombourg
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RNAi - Technologies, Markets and Companies

Wed, 01 Feb 2012 10:42:21 +0000

RNAi - Technologies, Markets and Companies

PR Newswire

NEW YORK, Feb. 1, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

RNAi - technologies, markets and companies

http://www.reportlinker.com/p0203551/RNAi---technologies-markets-and-companies.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Biological_Therapy

RNA interference (RNAi) or gene silencing involves the use of double stranded RNA (dsRNA). Once inside the cell, this material is processed into short 21-23 nucleotide RNAs termed siRNAs that are used in a sequence-specific manner to recognize and destroy complementary RNA. The report compares RNAi with other antisense approaches using oligonucleotides, aptamers, ribozymes, peptide nucleic acid and locked nucleic acid.

Various RNAi technologies are described, along with design and methods of manufacture of siRNA reagents. These include chemical synthesis by in vitro transcription and use of plasmid or viral vectors. Other approaches to RNAi include DNA-directed RNAi (ddRNAi) that is used to produce dsRNA inside the cell, which is cleaved into siRNA by the action of Dicer, a specific type of RNAse III. MicroRNAs are derived by processing of short hairpins that can inhibit the mRNAs. Expressed interfering RNA (eiRNA) is used to express dsRNA intracellularly from DNA plasmids.

Delivery of therapeutics to the target tissues is an important consideration. siRNAs can be delivered to cells in culture by electroporation or by transfection using plasmid or viral vectors. In vivo delivery of siRNAs can be carried out by injection into tissues or blood vessels or use of synthetic and viral vectors.

Because of its ability to silence any gene once the sequence is known, RNAi has been adopted as the research tool to discriminate gene function. After the genome of an organism is sequenced, RNAi can be designed to target every gene in the genome and target for specific phenotypes. Several methods of gene expression analysis are available and there is still need for sensitive methods of detection of gene expression as a baseline and measurement after gene silencing. RNAi microarray has been devised and can be tailored to meet the needs for high throughput screens for identifying appropriate RNAi probes. RNAi is an important method for analyzing gene function and identifying new drug targets that uses double-stranded RNA to knock down or silence specific genes. With the advent of vector-mediated siRNA delivery methods it is now possible to make transgenic animals that can silence gene expression stably. These technologies point to the usefulness of RNAi for drug discovery.

RNAi can be rationally designed to block the expression of any target gene, including genes for which traditional small molecule inhibitors cannot be found. Areas of therapeutic applications include virus infections, cancer, genetic disorders and neurological diseases. Research at academic centers that is relevant to RNAi-based therapeutics is mentioned.

Regulatory, safety and patent issues are discussed. Side effects can result from unintended interaction between an siRNA compound and an unrelated host gene. If RNAi compounds are designed poorly, there is an increased chance for non-specific interaction with host genes that may cause adverse effects in the host. However, there are no major safety concerns and regulations are in preliminary stages as the clinical trials are still ongoing and there are no marketed products. Many of the patents are still pending.

The markets for RNAi are difficult to define as no RNAi-based product is approved yet but several are in clinical trials. The major use of RNAi reagents is in research but it partially overlaps that of drug discovery and therapeutic development. Various markets relevant to RNAi are analyzed from 2011 to 2021. Markets are also analyzed according to breakdown of technologies and use of siRNAs, miRNAs, etc.

Profiles of 161 companies involved in developing RNAi technologies are presented along with 218 collaborations. They are a mix of companies that supply reagents and technologies (nearly half of all) and companies that use the technologies for drug discovery. Out of these, 33 are developing RNAi-based therapeutics and 30 are involved in microRNAs. The bibliography contains selected 600 publications that are cited in the report. The text is supplemented with 35 tables and 10 figures.

TABLE OF CONTENTS

0. Executive Summary 15

1. Technologies for suppressing gene function 17

Introduction 17

DNA transcription 17

RNA 17

Non-coding RNA 17

RNA research and potential applications 18

Role of RNA in regulation of the dihydrofolate reductase gene 19

Gene regulation 19

Post-transcriptional regulation of gene expression 20

Alternative RNA splicing 21

Technologies for gene suppression 21

Antisense oligonucleotides 21

Transcription factor decoys 22

Aptamers 22

Ribozymes 23

Aptazymes 23

RNA aptamers vs allosteric ribozymes 24

RNA Lasso 24

Peptide nucleic acid 24

PNA-DNA chimeras 25

Locked nucleic acid 25

Gene silencing 25

Post-transcriptional gene silencing 26

TargeTron? technology for gene knockout 26

Definitions and terminology of RNAi 26

RNAi mechanisms 27

Non-promoter-associated small RNAs 29

Piwi-interacting RNAs in germ cell development 30

Relation of RNAi to junk DNA 30

RNA editing and RNAi 31

Historical landmarks in the development of RNAi 31

2. RNAi Technologies 33

Introduction 33

Comparison of antisense and RNAi 33

Advantages of antisense over siRNAs 33

Advantages of siRNAs over antisense 34

RNA aptamers vs siRNA 34

RNA Lassos versus siRNA 34

Concluding remarks on antisense vs RNAi 35

ssRNAi 35

Antisense vs DNP-ssRNA and DNP-siRNA 35

LNA and RNAi 36

LNA for gene suppression 36

Comparison of LNA and RNAi 37

Use of siLNA to improve siRNA 37

RNAi versus small molecules 37

RNAi in vivo 37

Cre-regulated RNAi in vivo 38

RNAi kits 38

ShortCut™ RNAi Kit 38

HiScribe™ RNAi Transcription Kit 39

pSUPER RNAi system 39

Si2 Silencing Duplex 40

Techniques for measuring RNAi-induced gene silencing 40

Application of PCR in RNAi 40

Real-time quantitative PCR 41

Assessment of the silencing effect of siRNA by RT-PCR 41

Fluorescence resonance energy transfer probe for RNA interactions 42

Bioinformatics tools for design of siRNAs 42

Random siRNA design 42

Rational siRNA design 43

The concept of pooling siRNAs 44

Criteria for rational siRNA design 44

BLOCK-iT RNAi Designer 44

QIAGEN's 2-for-Silencing siRNA Duplexes 45

Designing vector-based siRNA 45

iRNAChek for designing siRNA 45

TROD: T7 RNAi Oligo Designer 45

siDirect: siRNA design software 46

Prediction of efficacy of siRNAs 46

Algorithms for prediction of siRNA efficacy 46

siRNA databases 46

Production of siRNAs 47

Chemical synthesis of short oligonucleotides 47

In vitro transcription 47

Generation of siRNAs in vivo 48

UsiRNAs 48

siRNA:DNA hybrid molecules 49

Chemical modifications of siRNAs 49

Sugar modifications of siRNA 49

Phosphate linkage modifications of siRNA 49

Modifications to the siRNA overhangs 50

Modifications to the duplex architecture 50

Applications of chemical modification of siRNAs 50

Synthetic RNAs vs siRNAs 51

Specificity of siRNAs 51

Asymmetric interfering RNA 52

Genome-wide data sets for the production of esiRNAs 52

ddRNAi for inducing RNAi 52

ddRNAi technology 52

Advantages of ddRNAi over siRNA 53

Short hairpin RNAs 54

siRNA versus shRNA 54

Circular interfering RNA 55

Expressed interfering RNA 56

RNA-induced transcriptional silencing complex 56

Inhibition of gene expression by antigene RNA 57

RNAi vs mRNA modulation by small molecular weight compounds 57

3. MicroRNA 59

Introduction 59

miRNA and RISC 61

Role of the microprocessor complex in miRNA 61

miRNAs compared to siRNAs 62

miRNA and stem cells 63

Influence of miRNA on stem cell formation and maintenance 63

Role of miRNAs in gene regulation during stem cell differentiation 63

miRNA databases 64

Sanger miRBase miRNA sequence database 64

Mapping miRNA genes 64

A database of ultraconserved sequences and miRNA function 65

A database for miRNA deregulation in human disease 65

An database of miRNA-target interactions 66

Role of miRNA in gene regulation 66

Control of gene expression by miRNA 67

miRNA-mediated translational repression involving Piwi 67

Transcriptional regulators of ESCs control of miRNA gene expression 67

Mechanism of miRNAs-induced silencing of gene expression 67

miRNA diagnostics 68

Biochemical approach to identification of miRNA 68

Computational approaches for the identification of miRNAs 69

LNA probes for exploring miRNA 69

Microarrays for analysis of miRNA gene expression 69

Microarrays vs quantitative PCR for measuring miRNAs 70

miRNAs as biomarkers of hepatotoxicity 70

Modification of in situ hybridization for detection of miRNAs 71

Nuclease Protection Assay to measure miRNA expression 71

Real-time PCR for expression profiling of miRNAs 71

Targeting of miRNAs with antisense oligonucleotides 72

Silencing miRNAs by antagomirs 72

New tools for miRNA silencing 72

Use of HAPIscreen for identification of aptamers against pre-miRNAs 73

miRNA-regulated lentiviral vectors 73

miRNAs as drug targets 73

miRNAs as targets for antisense drugs 74

Challenges facing use of miRNAs as drug targets 74

Target specificity of miRNAs 75

Prediction of miRNA targets 75

Role of miRNA in human health and disease 76

Role of miRNAs in regulation of hematopoiesis 76

Role of miRNA depletion in tissue regeneration 76

Role of miRNA in regulation of aging 77

Role of miRNA in inflammation 77

Role of miRNAs in regulation of immune system 77

Role of miRNA in the cardiovascular system 78

Role of miRNAs in development of the cardiovascular system 78

Role of miRNAs in angiogenesis 78

Role of miRNAs in cardiac hypertrophy and failure 78

Role of miRNAs in conduction and rhythm disorders of the heart 79

Diagnostic and prognostic value of miRNAs in acute coronary syndrome 79

miRNA-based approaches for reduction of hypercholesterolemia 80

miRNA-based approach for restenosis following angioplasty 80

miRNA gene therapy for ischemic heart disease 80

miRNAs as therapeutic targets for cardiovascular diseases 81

Concluding remarks and future prospects of miRNA in the cardiovascular system 81

Role of miRNAs in the nervous system 81

miRNAs and addiction 82

miRNAs in neurodegenerative disorders 82

miRNAs as biomarkers of Alzheimer's disease 83

miRNAs in Huntington's disease 83

miRNA malfunction in spinal motor neuron disease 83

miRNAs and retinal neurodegenerative disorders 84

miRNA and schizophrenia 84

Role of miRNA in viral infections 84

Role of miRNA in HSV-1 latency 84

miRNA and autoimmune disorders 85

miRNA in rheumatoid arthritis 85

miRNA in systemic lupus erythematosus 85

miRNAs in gastrointestinal disorders 86

miRNA-based therapies for the irritable bowel syndrome 86

miRNA and skin disorders 86

Role of miRNA in inflammatory skin disorders 86

Role of miRNAs in cancer 86

miRNAs linked to the initiation and progression of cancer 86

Oncomirs 87

Linking miRNA sequences to cancer using RNA samples 88

Role of miRNAs in viral oncogenesis 88

miRNA genes in cancer 88

miRNAs interaction with p53 89

miRNAs, embryonic stem cells and cancer 89

miRNAs and cancer metastases 90

Role of miRNAs in cancer diagnosis 91

Cancer miRNA signature 91

miRNA biomarkers in cancer 91

Diagnostic value of miRNA in cancer 92

Prognostic value of miRNA in cancer 92

miRNAs as basis of cancer therapeutics 92

Antisense oligonucleotides targeted to miRNA 92

Delivery of miRNA mimetics in Cancer 93

Role of miRNAs in adoptive immunotherapy of cancer 93

Restoration of tumor suppressor miRNA may inhibit cancer 93

Role of miRNAs in various cancers 94

miRNA and brain cancer 94

miRNA and breast cancer 95

miRNA and colorectal cancer 95

miRNA and gastrointestinal cancer 95

miRNA and hematological malignancies 96

miRNA and hepatocellular carcinoma 97

miRNA and lung cancer 97

miRNA and nasopharyngeal carcinoma 98

miRNA and ovarian cancer 99

miRNA and pancreatic cancer 99

miRNA and prostatic cancer 100

miRNA and thyroid cancer 100

Future prospects of miRNA therapeutics 101

Companies involved in miRNA 101

4. Methods of delivery in RNAi 105

Introduction 105

Methods of delivery of oligonucleotides 105

Oral and rectal administration 106

Pulmonary administration 106

Targeted delivery to the CNS 106

High flow microinfusion into the brain parenchyma 107

Intracellular guidance by special techniques 107

Biochemical microinjection 108

Liposomes-mediated oligonucleotide delivery 108

Polyethylenimine-mediated oligonucleotide delivery 108

Delivery of TF Decoys 108

Biodegradable microparticles 109

Microparticles 109

Nanoparticles 109

Self-delivering rxRNA 109

siRNA delivery technologies 110

Local delivery of siRNA 111

In vivo delivery of siRNAs by synthetic vectors 111

Intracellular delivery of siRNAs 111

Delivery of siRNAs with aptamer-siRNA chimeras 112

MPG-based delivery of siRNA 112

Nanoparticles for intracellular delivery of siRNA 112

Protamine-antibody fusion proteins for delivery of siRNA to cells 112

Protein transduction domains 113

Phosphorothioate stimulated cellular delivery of siRNA 113

Targeted delivery of siRNAs by lipid-based technologies 113

Delivery of siRNA-lipoplexes 114

Lipidoids for delivery of siRNAs 114

NeoLipid™ technology 115

siFECTamine? 115

Systemic in vivo delivery of lipophilic siRNAs 115

Systemic delivery of siRNAi by lipid nanoparticles 115

Challenges and future prospects of lipid-based siRNA delivery 116

Electroporation 116

Nucleofactor technology 117

Visualization of electrotransfer of siRNA at single cell level 117

Intravascular delivery of siRNA 117

27mer siRNA duplexes for improved delivery and potency 118

TransIT-TKO? 118

DNA-based plasmids for delivery of siRNA 119

Convergent transcription 120

PCR cassettes expressing siRNAs 120

Genetically engineered bacteria for delivery of shRNA 120

Viral vectors for delivery of siRNA 120

Adenoviral vectors 120

Adeno-associated virus vectors for shRNA expression 121

Baculovirus vector 121

Lentiviral vectors 122

Retroviral delivery of siRNA 123

Transkingdom RNAi delivery by genetically engineered bacteria 123

Delivery of siRNA without a vector 123

Cell-penetrating peptides for delivery of siRNAs 124

Role of nanobiotechnology in siRNA delivery 124

Chitosan-coated nanoparticles for siRNA delivery 124

Cyclodextrin nanoparticles 125

Delivery of gold nanorod-siRNA nanoplex to dopaminergic neurons 125

Lipidic aminoglycoside as siRNA nanocarrier 125

Lipid nanoparticles-mediated siRNA delivery 125

Nanosize liposomes for delivery of siRNA 126

PAMAM dendrimers for siRNA delivery 126

Polyethylenimine nanoparticles for siRNA delivery 127

Polycation-based nanoparticles for siRNA delivery 127

Quantum dots to monitor siRNA delivery 128

Targeted delivery of siRNAs to specific organs 128

siRNA delivery to the CNS 128

siRNA delivery to the liver 129

siRNA delivery to the lungs 129

Control of RNAi and siRNA levels 130

siRNA pharmacokinetics in mammalian cells 130

Mathematical modeling for determining the dosing schedule of siRNA 131

Assessing siRNA pharmacodynamics in animal models 131

Research on siRNA delivery funded by the NIH 131

Companies involved in delivery technologies for siRNA 132

5. RNAi in Research 135

Introduction 135

Basic RNAi research 135

Antiviral role of RNAi in animal cells 135

Combination of siRNA with green fluorescent protein 135

Detection of cancer mutations 136

Genes and lifespan 136

Inducible and reversible RNAi 136

Loss-of-function genetic screens 136

Profiling small RNAs 137

RNAi for research in neuroscience 137

RNAi and environmental research 138

Silencing snoRNA genes 138

Study of signaling pathways 138

Transgenic RNAi 139

Use of RNAi to study insulin action 139

Applied RNAi research 139

RNAi for gene expression studies 139

Microarrays for measuring gene expression in RNAi 139

RNAi for functional genomic analysis 140

RNAi studies on C. elegans 140

RNAi studies on Drosophila 141

RNAi in planaria 142

Testing the specificity of RNAi 142

Tissue-specific RNAi 142

siRNA-mediated gene silencing 143

RNAi libraries 143

Universal plasmid siRNA library 144

pDual library using plasmid vector 144

pHippy plasmid vector library 145

siRNA libary including miRNAs 145

siRNA libraries using pRetroSuper vector 145

siRNA produced by enzymatic engineering of DNA 145

shRNA libraries 146

Enzymatic production of RNAi library 147

RNAi and alternative splicing 147

RNAi in animal development 147

RNAi for creating transgenic animals 148

RNAi for creating models of neurological disorders 148

Research support for RNAi in US 149

RNAi for toxicogenomics 149

Role of RNAi in the US biodefense research 149

The RNAi Consortium 149

Research support for RNAi in Europe 150

European Union for RNA Interference Technology 150

Research support of RNAi 151

Role of RNAi in MitoCheck project 151

RNAi Global Initiative 152

SIROCCO project 153

6. RNAi in drug discovery 155

Basis of RNAi for drug discovery 155

RNAi for identification of genes as therapeutic targets 155

Role of siRNAs in drug target identification 156

Use of a genome-wide, siRNA library for drug discovery 156

Use of arrayed adenoviral siRNA libraries for drug discovery 156

RNAi as a tool for assay development 157

Targeting human kinases with an siRNAi library 157

Challenges of drug discovery with RNAi 157

Express TrackSM siRNA Drug Discovery Program 158

Genome-wide siRNA screens in mammalian cells 158

PhenomicID™ 158

Natural antisense and ncRNA as drug targets 159

RNAi for target validation 159

Delivering siRNA for target validation in vivo 159

Off-target effects of siRNA-mediated gene silencing 161

Bioinformatic approach to off-target effects 162

Validation of oncology targets discovered through RNAi screens 162

Selection of siRNA versus shRNA for target validation 163

Application of RNAi to the druggable genome 163

Application of siRNA during preclinical drug development 163

siRNAs vs small molecules as drugs 164

siRNAs vs antisense drugs 164

RNAi technology in plants for drug discovery and development 165

Application of RNAi to poppy plant as source of new drugs 165

7. Therapeutic applications of RNAi 167

Introduction 167

Potential of RNAi-based therapies 168

In vitro applications of siRNA 168

In vivo applications of RNAi 169

RNAi and cell therapy 169

Gene inactivation to study hESCs 170

RNAi and stem cells 170

Cell therapy for immune disorders 171

RNAi gene therapy 171

Drug-inducible systems for control of gene expression 171

Potential side effects of RNAi gene therapy 172

Systemic delivery of siRNAs 172

In vivo RNAi therapeutic efficacy in animal models of human diseases 173

Virus infections 173

RNAi approaches to viral infections 174

Delivery of siRNAs in viral infections 175

RNAi applications in HIV 175

A multiple shRNA approach for silencing of HIV-1 176

Anti-HIV shRNA for AIDS lymphoma 176

Aptamer-mediated delivery of anti-HIV siRNAs 176

Bispecific siRNA constructs 176

Role of the nef gene during HIV-1 infection and RNAi 177

siRNA-directed inhibition of HIV-1 infection 177

Synergistic effect of snRNA and siRNA 178

Targeting CXCR4 with siRNAs 178

Targeting CCR5 with siRNAs 178

Concluding remarks on RNAi approach to HIV/AIDS 179

Influenza 179

Inhibition of influenza virus by siRNAs 180

Delivery of siRNA in influenza 181

Challenges and future prospects of siRNAs for influenza 181

Respiratory syncytial and parainfluenza viruses 182

Coronavirus/severe acute respiratory syndrome 183

Herpes simplex virus 2 183

Hepatitis B 183

Hepatitis C virus 184

Cytomegalovirus 186

Ebola virus 186

siRNA vs antisense oligonucleotides for viral infections 186

siRNA against methicillin-resistant S. aureus 187

RNAi-based rational approach to antimalarial drug discovery 187

Inhibiting the growth of malarial parasite by heme-binding DNA aptamers 187

siRNA-based antimalarial therapeutics 188

RNAi applications in oncology 188

Allele-specific inhibition 189

Drug delivery issues in managing cancer by RNAi approach 189

Inhibition of oncogenes 190

Modification of alternative splicing in cancer 191

Onconase 191

Overcoming drug resistance in cancer 192

Targeting fusion proteins in cancer 193

Increasing chemosensitivity by RNAi 193

RNAi approach to study TRAIL 193

RNAi-based logic circuit for identification of specific cancer cells 194

siRNAs for anticancer drug discovery 194

siRNAs for inducing cancer immunity 195

siRNAs for inhibition of angiogenesis 195

siRNA targeting the R2 subunit of ribonucleotide reductase 196

siRNA for cancer chemoprevention 196

siHybrids vs siRNAs as anticancer agents 196

Nanobiotechnology-based delivery of siRNAs 197

Lipid nanoparticle-based delivery of anticancer siRNAs 197

Minicells for targeted delivery of nanoscale anticancer therapeutics 197

Nanoimmunoliposome-based system for targeted delivery of siRNA 198

Polymer nanoparticles for targeted delivery of anticancer siRNA 198

RNA nanotechnology for delivery of cancer therapeutics 199

Targeted delivery of a nanoparticle-siRNA complex in cancer patients 199

RNAi-based treatment of various cancer types 200

RNAi-based therapy of brain cancer 200

RNAi in breast cancer 201

RNAi for enhancing hyperthermia/chemotherapy in cervical cancer 202

RNAi and colorectal cancer 202

RNAi and Ewing's sarcoma 203

RNAi and leukemias 203

RNAi and lung cancer 204

RNAi and melanoma 204

RNAi and pancreatic cancer 205

RNAi and prostate cancer 205

Genetic disorders 205

RNAi for skin disorders 206

Experimental studies for RNAi applications in skin disorders 206

Clinical applications of RNAi in skin disorders 207

Pachyonychia congenita 207

Neurological disorders 207

RNAi for neurodegenerative disorders 208

Alzheimer's disease 209

Parkinson's disease 209

Amyotrophic lateral sclerosis 210

Prion diseases 211

Polyglutamine-induced neurodegeneration 211

Fragile X syndrome and RNAi 212

RNAi-based therapy for Huntington's disease 212

Combination of RNAi and gene therapy to prevent neurodegenerative disease 213

Role of RNAi in pain therapy 214

Role of RNAi in repair of spinal cord injury 214

Role of RNAi in treatment of multiple sclerosis 215

siRNA for Duchenne muscular dystrophy 215

siRNA for dystonia 215

RNAi in ophthalmology 216

Age related macular degeneration 216

Current treatment of AMD 216

RNAi-based treatments for AMD 217

Diabetic retinopathy 218

Retinitis pigmentosa 219

RNAi and metabolic disorders 219

RNAi and obesity 220

Genes and regulation of body fat 220

RNAi and diabetes 220

Regulation of insulin secretion by a miRNA 220

RNAi for study of genes in animal models of diabetes 221

RNAi for drug discovery in diabetes 221

RNAi for treating liver dysfunction in diabetes 222

siRNAs for study of glucose transporter 222

siRNAs for targeting adipose inflammation in diabetes and obesity 223

RNAi in hematology 223

Stem cell-based gene therapy and RNAi for sickle cell disease 223

RNAi and disorders of the immune system 224

siRNA applications in immunology 224

Use of RNAi in transplantation 225

RNAi for cardiovascular disorders 225

RNAi for hypercholesterolemia 226

siRNA targeting NADPH oxidase in cardiovascular diseases 226

siRNA for study and treatment of ischemia-reperfusion injury 227

RNAi in respiratory disorders 227

siRNA for cystic fibrosis 227

siRNA for asthma 228

RNAi for musculoskeletal disorders 228

RNAi for rheumatoid arthritis 228

RNAi for bone disorders 229

RNAi for treatment of osteoporosis 229

Research relevant to RNAi-based therapies at academic institutes 230

Laboratory of RNA Molecular Biology, The Rockefeller University 230

RNAi Center, La Jolla Institute for Allergy & Immunology 230

Clinical trials of RNAi-based therapies 231

Improving efficacy of siRNAs for clinical trials by improved delivery 232

Role of RNAi in development of personalized medicine 232

Future prospects of RNAi 233

Challenges for the development of RNAi-based therapeutics 233

8. Safety, regulatory and patent issues 235

Introduction 235

Limitations and drawbacks of RNAi 235

Adverse effects of RNAi 235

Effect of siRNAs on interferon response 236

Detection of interferon response 236

Prevention of the interferon response in RNAi 237

Overcoming the innate immune response to siRNAs 237

Toxicity associated with RNAi 238

Selection of siRNAs to improve specificity and efficacy 238

Regulatory issues relevant to RNAi 238

RNAi patents 239

Companies with strong patent position 239

Alnylam 239

Benitec 242

Intradigm 242

Quark Pharmaceuticals 242

Sirna Therapeutics 243

9. Markets for RNAi Technologies 245

Introduction 245

Current and future market potential for RNAi technologies 245

RNAi reagents 246

siRNA markets 246

RNAi-based drug discovery and target validation 246

RNAi-based development of therapeutics 246

RNAi market potential according to therapeutic areas 247

Market for viral infections 247

Market for cancer 248

Market for age related macular degeneration 248

Unmet needs in RNAi 248

Strategies for marketing RNAi 249

Choosing optimal indications 249

Strategies according to the trends in healthcare in the next decade 250

Concluding remarks 251

10. Companies involved in RNAi Technologies 253

Introduction 253

Major players in RNAi 256

Profiles of companies 257

Collaborations 445

11. References 453

List of Tables

Table 1 1: Classification of small RNA molecules 27Table 1 2: Mechanisms of small RNAs involved in gene silencing 28Table 1 3: Historical landmarks in the evolution of RNAi 31Table 2 1: RNAi versus small molecules 37Table 2 2: Providers of software for siRNA design 43Table 2 3: Methods for the production of siRNAs 47Table 2 4: Advantages and limitations of methods of shRNA-derived siRNA knockdown 55Table 2 5: Comparison of eiRNA with siRNA 56Table 3 1: Methods for miRNA target prediction 75Table 3 2: miRNA expression in neurodegenerative diseases 82Table 3 3: Dysregulation of miRNA expression in epithelial cancers 87Table 3 4: Companies involved in miRNA diagnostics and therapeutics 101Table 4 1: Methods of delivery of oligonucleotides 105Table 4 2: Methods of delivery of siRNA 110Table 4 3: Companies developing siRNA delivery technologies 133Table 5 1: RNAi libraries 143Table 6 1: Delivery of siRNAs in vivo for target validation 160Table 6 2: Selection of siRNA versus shRNA for target validation 163Table 7 1: RNAi-based therapeutic approaches 168Table 7 2: In vivo RNAi therapeutic efficacy in animal models of human diseases 173Table 7 3: Inhibition of viral replication by RNAi 174Table 7 4: Cancer-associated genes that can be targeted by RNAi 190Table 7 5: Neurological disorders that have been studied by using RNAi 208Table 7 6: Clinical trials of RNAi-based therapeutics 231Table 9 1: RNAi markets according to technologies and reagents 2011-2021 245Table 9 2: Markets for RNAi therapy for selected diseases: years 2011-2021 247Table 10 1: RNAi reagent, technology and service companies 253Table 10 2: Pharmaceutical companies using RNAi for drug discovery and development 254Table 10 3: Biotechnology companies using RNAi for drug discovery and development 255Table 10 4: Companies developing RNAi-based therapeutic products 256Table 10 5: Major players in RNAi 256Table 10 6: RNAi products of Benitec 277Table 10 7: Proprietary reagents of ImuThes 332Table 10 8: Product pipeline of Silence Therapeutics 414Table 10 9: Collaborations in RNAi technologies 445

List of Figures

Figure 1 1: Relationship of DNA, RNA and protein in the cell 20

Figure 1 2: Schematic of suppression of gene expression by RNAi 28

Figure 2 1: Overview of ShortCut RNAi Kit 39

Figure 2 2: Gene silencing by RNAi induced with ddRNAi 53

Figure 3 1: A schematic miRNA pathway 59

Figure 3 2: Molecular mechanisms of miRNA generation 60

Figure 7 1: Targeting disease by RNAi 167

Figure 7 2: Role of RNAi in personalized medicine 233

Figure 8 1: Problems with use of synthetic siRNAs and measures to prevent them 236

Figure 9 1: Unmet needs in RNAi technologies 249

To order this report:Biological Therapy Industry: RNAi - technologies, markets and companies

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Nicolas Bombourg
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Cytogenetics - Technologies, Markets and Companies

Wed, 01 Feb 2012 10:30:53 +0000

Cytogenetics - Technologies, Markets and Companies

PR Newswire

NEW YORK, Feb. 1, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Cytogenetics - technologies,markets and companies

http://www.reportlinker.com/p0203539/Cytogenetics---technologiesmarkets-and-companies.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Genomics

This report deals with cytogenetics in a broader sense rather than the classical use mainly to describe the chromosome structure and identify abnormalities related to disease. In the age of molecular biology, it is also referred to as molecular cytogenetics. Historical landmarks in the evolution of cytogenetics are reviewed since the first images of chromosomes were made in 1879. The scope of cytogenetics includes several technologies besides fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and multicolor FISH. Molecular cytogenetics includes application of nanobiotechnology, microarrays, real-time polymerase chain reaction (PCR), in vivo imaging, and single molecule detection. Bioinformatics is described briefly as it plays an important role in analyzing data from many of these technologies.

FISH remains the single most important technology in cytogenetics. Several innovations are described of which the most important are single copy FISH, in vivo FISH (imaging of nucleic acids in living cells) and nanotechnology-based FISH. The unique character of peptide nucleic acid (PNA) allows these probes to hybridize to target nucleic acid molecules more rapidly and with higher affinity and specificity compared with DNA probes. PNA-FISH is more suited for rapid diagnosis of infections. RNA-FISH and locked nucleic acids (LNAs), are also described.

Microarray/biochip-based technologies for cytogenetics promise to speed up detection of chromosome aberrations now examined by FISH. Other important genomic technologies are whole genome expression array and direct molecular analysis without amplification. Analysis of single-cell gene expression promises a more precise understanding of human disease pathogenesis and has important diagnostic applications. Optical Mapping can survey entire human genomes for insertions/deletions, which account for a significantly greater proportion of genetic variation between closely-related genomes as compared to single nucleotide polymorphisms (SNPs), and are a major cause of gene defects.

Technologies encompassed within molecular imaging include optical imaging, magnetic resonance imaging (MRI) and nuclear medicine techniques. Positron emission tomography (PET) is the most sensitive and specific technique for imaging molecular pathways in vivo in humans. Cytogenetics can be refined by application of cytogenetics at single molecule level. Nanotechnology has facilitated the development of technology for single molecule imaging. Atomic force microscope (AFM) has become a well-established technique for imaging single biomolecules under physiological conditions. The scanning probe microscope (SPM) system is emerging as an increasingly important tool for non-intrusive interrogation of biomolecular systems in vitro and have been applied to improve FISH. Another example of application of nanobiotechnology is QD (quantum dot)-FISH probes, which can detect down to the single molecule level.

There are connections between cytogenetics and biomarkers of genetic disorders as well as cancer. Biomarkers are very important for molecular diagnostics. Not only are molecular diagnostic technologies used for discovery of biomarkers, biomarkers are the basis of several diagnostics. As a means to understand pathomechanism of disease and as links between diagnostics and therapeutics, biomarkers are playing a role in development of personalized medicine. Application of cytogenetics extend beyond genetic disorder and cancer to diagnosis of several other diseases. Other important applications are drug discovery, and development of personalized medicine.

The chapter on markets provides a global perspective of the cytogenetics business in the major markets: US, Western Europe (including France, Germany, Italy, Spain, and the UK), and Japan. The total figures for the market are also broken out according to the technologies and major disease areas in which they are applied. Markets figure are given for the year 2011 and estimates are made for the years 2016 and 2021. Advantages and limitations of various technologies have been pointed out throughout the report but this chapter includes SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis of some of the competing technologies including the following: conventional FISH, innovative FISH technologies, PCR-based assays, and single molecule imaging. Unfulfilled needs in cytogenetics market are depicted graphically. Among various technologies, FISH is most advanced and less opportunities for further development than single molecule detection, which is in infancy and has more future potential.

The report includes summary profiles of 69 companies relevant to cytogenetics along with their 68 collaborations. Companies developing innovative technologies as well as those supplying equipment/services/reagents are identified.The report text is supplemented with 27 Tables and 9 figures. Selected 200 references are included in the bibliography.

TABLE OF CONTENTS

0. Executive Summary 11

1. Introduction 13

Definitions 13

Historical evolution of cytogenetics 13

Scope of cytogenetics 14

Molecular cytogenetics 15

Basics of molecular biology relevant to cytogenetics 15

DNA 15

RNA 16

DNA transcription 16

Chromosomes 16

Mitochondrial DNA 17

Genes 17

The genetic code 17

Gene expression 18

The human genome 18

Variations in the human genome 19

Variations in DNA sequences 19

Single nucleotide polymorphisms 19

Copy number variations in the human genome 19

Genotype and haplotypes 21

Complex chromosomal rearrangements 21

Insertions and deletions in the human genome 21

Large scale variation in human genome 22

Structural variations in the human genome 22

Replication of the DNA helix 23

Transposons 23

Mapping and sequencing of structural variation from human genomes 24

2. Technologies used for cytogenetics 25

Introduction 25

Quantitative fluorescent polymerase chain reaction 25

RNA interference and cytogenetics 26

RNA-induced transcriptional silencing complex 26

Single cell genetics by siRNA ablation 26

RNAi and cancer cytogenetics 27

Role of miRNAs in cancer cytogenetics 27

Preimplantation genetic diagnosis 27

Preimplantation genetic haplotyping 28

Bioinformatics and cytogenetics 28

FISH probe design software 28

LS-CAP algorithm 29

Distance-based clustering of CGH data 29

3. Fluorescent In Situ Hybridization 31

Introduction 31

Innovative FISH technologies 33

Direct visual in situ hybridization 33

Direct labeled Satellite FISH probes 33

Chromogenic in situ hybridization (CISH) 33

Primed in situ labeling 34

Interphase FISH 34

FISH with telomere-specific probes 35

High-throughput quantitative FISH 35

Multicolor FISH 36

Multicolor chromosome banding 36

Fiber FISH 36

Use of peptide nucleic acid with FISH 36

RNA-FISH 38

Use of locked nucleic acids with FISH 38

Automation of FISH 38

Single copy FISH probes 39

peT-FISH™ 39

In vivo FISH 40

Applications of FISH 40

Companies involved in FISH diagnostics 41

4. Genomic Technologies relevant to Cytogenetics 43

Introduction 43

Microarrays/biochips for cytogenetics 43

Tissue microarrays 43

Chromosome copy number analysis 43

Combination of FISH and gene chips 44

Combination of CGH+SNP microarrays 44

SignatureChip® 44

Molecular Combing 45

High density oligonucleotide arrays 45

Next Generation Screening® 46

Comparative genomic hybridization 46

Array-based comparative genomic hybridization 48

aCGH vs karyotyping 48

Comparison of array CGH and multipoint FISH 49

Combined use of tissue microarrays and aCGH 49

Single-cell array CGH 49

Regulatory requirements for array CGH 50

Future prospects of aCGH 50

Whole genome expression microarrays 51

Life Technologies Expression Array System 51

Arrayit's® H25K 52

Optical Mapping 52

Single cell cytogenetics 53

Single cell PCR 53

LATE-PCR 53

AmpliGrid-System 53

Digital Counting 53

Analysis of single-cell gene expression 54

Application of single cell cytogenetics in preimplantation genetic testing 54

Direct molecular analysis without amplification 55

5. Molecular Imaging & Single Molecular Detection 57

Molecular imaging 57

Companies involved in molecular imaging 57

Single molecule detection 58

Spectrally resolved fluorescence lifetime imaging microscopy 58

Single-molecule fluorescence resonance energy transfer 59

Confocal laser scanning 59

Single Molecule Array 59

PCR systems for single molecule detection 60

Real-time PCR 60

Digital PCR 60

Emulsion PCR 61

Rolling circle amplification technology 61

Microfluidic assay for protein expression at the single molecule level 61

Bioinformatic and single molecule detection 62

6. Role of Nanobiotechnology in Cytogenetics 63

Introduction 63

Nanobiology and the cell 63

Visualization on nanoscale 64

Application of AFM for biomolecular imaging 64

Future insights into biomolecular processes by AFM 64

Use of AFM for microdissection of chromosomes 65

Scanning probe microscopy 65

Near-field scanning optical microscopy 65

Multiple single-molecule fluorescence microscopy 66

Nanoscale scanning electron microscopy 66

Nanotechnology-based FISH 66

Study of chromosomes by atomic force microscopy 66

Quantum dot FISH 66

Nanobiotechnology for single molecule detection 67

Nanolaser spectroscopy for detection of cancer in single cells 68

Carbon nanotube transistors for genetic screening 68

Quantum-dots-FRET nanosensors for single molecule detection 69

3D single-molecular imaging by nanotechnology 69

Manipulation of DNA sequence by use of nanoparticles 69

Nanofluidic/nanoarray devices to detect a single molecule of DNA 69

Nanopore technology 70

Portable nanocantilever system for diagnosis 70

Nanobiosensors 71

7. Biomarkers and Cytogenetics 73

Introduction 73

Definitions 73

Biomarkers and cytogenetics 73

Cancer biomarkers 73

Technologies for detection of cancer biomarkers 74

Telomerase as a biomarker of cancer 74

Digital karyotyping for cancer biomarkers 74

Optical systems for in vivo molecular imaging of cancer 75

Circulating cancer cells in blood as biomarkers of cancer 75

Array CGH for biomarker discovery in cancer 76

Genetic biomarkers 76

8. Applications of Cytogenetics 77

Introduction 77

Applications of cytogenetics in research 77

Cytogenetics of embryonic stem cells 77

Genetic disorders 78

Technologies for diagnosis of genetic disorders 78

Cytogenetic microarrays for diagnosis of mental retardation 78

Detection of copy number variations in genetic disorders 79

Detection of non-recurrent DNA rearrangements by aCGH 79

Quantitative fluorescent PCR 80

Representational oligonucleotide microarray analysis 80

SignatureChip®-based diagnostics for cytogenetic abnormalities 80

Screening for cytogenetic abnormalities 81

Cytogenetics in prenatal diagnosis 81

aCGH for prenatal diagnosis 81

BAC HD Scan test 82

FISH for prenatal diagnosis 82

PCR for prenatal diagnosis of trisomy 21 82

Plasma DNA sequencing to detect fetal chromosomal aneuploidies 83

Concluding remarks and future prospects of prenatal diagnosis 83

Cytogenetics in preimplantation genetic diagnosis 84

Array CGH for PGD 84

Fluorescent PCR for PGD 84

FISH for PGD 85

PGD using whole genome amplification 85

Conditions detected by preimplantation cytogenetic diagnosis 86

The future of preimplantation genetic diagnosis 86

Disorders of the nervous system 87

Application of cytogenetics in epilepsy 87

Neuropsychiatric disorders in children 87

Cardiovascular disorders 88

Infections 88

PNA-FISH for diagnosis of infections 88

Diagnosis of bacterial infections at single molecule level 89

Detection of single virus particles 89

Role of cytogenetics in drug discovery and development 90

Role of cytogenetics in the development of personalized medicine 90

Relation of cytogenetics to personalized medicine 90

Cytomics as a basis for personalized medicine 91

Molecular imaging and personalized medicine 92

Cytogenetics for gender determination 92

Gender determination in competitive sport 92

Gender determination in forensic cases 93

Regulatory aspects of FISH 93

9. Cancer Cytogenetics 95

Cancer genetics 95

Cytogenetic abnormalities in cancer 95

Cytogenetic technologies for molecular diagnosis of cancer 95

Applications of aCGH in oncology 96

Cytogenetics of tumor cells in body fluids 97

Cytogenetics and microRNAs 97

Gene expression profiles predict chromosomal instability in tumors 97

Loss of heterozygosity 98

Molecular Combing for cancer diagnosis 98

Mutation detection at molecular level 99

Proteomic identification of oncogenic chromosomal translocation partners 99

Tissue microarrays for cancer diagnosis 100

Applications of cytogenetics in molecular diagnosis of cancer 100

Molecular cytogenetics in hematological malignancies 100

Chromosome translocations in leukemias 101

Cytogenetics diagnostics for leukemia 101

Detection of p53 deletions in chronic lymphocytic leukemia 102

Cytogenetics of lymphomas 102

Cytogenetics of myelodysplastic syndrome 103

Cytogenetics of plasma cell myeloma 104

Bladder cancer 104

Bone and soft tissue tumors 104

Brain tumors 105

Breast cancer 106

Chromosomal aberrations in breast carcinomas 106

FISH vs CISH and SISH for determining of HER-2/neu amplification 106

Genomic profiles of breast cancer 107

Colorectal cancer 107

Lung cancer 108

Ovarian cancer 109

aCGH analyses of cisplatin-resistant ovarian cancer cells 109

Prostate cancer 109

Renal cancer 110

Thyroid cancer 110

Cytogenetics-based anticancer strategies 111

aCGH-based strategies for targeting cancer pathways 111

Allele-specific inhibition 111

Prognostic and therapeutic significance of gene amplifications 111

RNAi-based approach for leukemia 112

Significance of double minutes 112

Online resources for cancer cytogenetics 112

The Cancer Genome Atlas 113

Concluding remarks on cancer cytogenetics 113

10. Cytogenetics Markets 115

Introduction 115

Methods for study of cytogenetic markets 115

Cytogenetic markets according to technologies 115

Market for FISH technologies 116

Array CGH markets 116

Sorting the markets of overlapping technologies 117

Markets for cytogenetics according to therapeutic areas 117

Geographical distribution of markets for cytogenetics 119

SWOT of competing technologies 119

Unfulfilled needs 120

Limitations of current technologies 122

Promising future developments in cytogenetics 122

Commercial aspects of genome sequencing technologies 122

Cost of genotyping 122

11. Companies 125

Profiles of companies 125

Collaborations 209

12. References 213

List of Tables

Table 1 1: Historical landmarks in the evolution of cytogenetics 13Table 2 1: A classification of technologies used for cytogenetics 25Table 3 1: Classification and scope of FISH and related technologies 32Table 3 2: A selection of companies with FISH diagnostics 41Table 4 1: Microarray/biochip-based technologies for cytogenetics 43Table 4 2: Chromosomal structural abnormalities detected by CGH 46Table 4 3: Companies developing whole genome chips/microarrays 51Table 5 1: Companies involved in developing molecular imaging 57Table 5 2: Technologies for single molecule detection 58Table 6 1: Nanobiotechnologies for single molecule detection 68Table 7 1: Types of cancer biomarkers relevant to cytogenetics 74Table 8 1: Applications of cytogenetics 77Table 8 2: Application of preimplantation cytogenetic diagnosis in monogenic disorders 86Table 9 1: WHO classification of myelodysplastic syndromes 103Table 9 2: Fusion genes in in malignant bone and soft tissue tumors 105Table 9 3: Fusion genes in adenocarcinoma of the thyroid 110Table 10 1: Cytogenetic markets according to technologies from 2011-2021 115Table 10 2: Market size for cytogenetics according to applications 2011-2021 117Table 10 3: Global cytogenetics markets 2011-2021 119Table 10 4: SWOT of conventional FISH 119Table 10 5: SWOT of innovative FISH technologies 119Table 10 6: SWOT of PCR-based assays 120Table 10 7: SWOT of aCGH 120Table 10 8: SWOT of single molecule imaging 120Table 11 1: Major suppliers of reagents/services/equipment for cytogenetics 125Table 11 2: Major consumers of reagents 126Table 11 3: Companies developing innovative technologies in cytogenetics 126Table 11 4: Collaborations in cytogenetics 209

List of Figures

Figure 6 1: Scheme of a novel optical mRNA biosensor 71

Figure 8 1: Relation of various technologies to drug discovery and development 90

Figure 8 2: Relation of cytogenetics to personalized medicine 91

Figure 8 3: Relation of cytomics to personalized medicine 92

Figure 9 1: Basic scheme of genome-wide screening techniques for cancer 95

Figure 10 1: Distribution of applications of cytogenetics in the year 2016. 118

Figure 10 2: Distribution of applications of cytogenetics in the year 2021. 118

Figure 10 3: Unfulfilled needs in cytogenetics according to technologies 121

Figure 10 4: Unfulfilled needs in cytogenetics according to areas of application 121

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Nicolas Bombourg
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Biomarkers - Technologies, Markets and Companies

Wed, 01 Feb 2012 10:28:22 +0000

Biomarkers - Technologies, Markets and Companies

PR Newswire

NEW YORK, Feb. 1, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Biomarkers - Technologies,markets and companies

http://www.reportlinker.com/p0203536/Biomarkers---Technologiesmarkets-and-companies.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Genomics

This report follows the broad definition of a biomarker as a characteristic that can be objectively measured and evaluated as an indicator of normal biological or pathogenic processes as well as pharmacological responses to a therapeutic intervention. Tests based on biomarkers have been around for more than half a century, but interest in their application for diagnostics and drug discovery as well as development has increased remarkably since the beginning of the 21st century. This report describes different types of biomarkers and their discovery using various "-omics" technologies such as proteomics and metabolomics. Molecular diagnostics technologies are used for the discovery of biomarkers and new tests are also based on biomarker.

Currently the most important applications of biomarkers are in drug discovery and development. The role of biomarkers in various therapeutic areas particularly cancer, cardiovascular diseases and disorders of the central nervous system, is described. Biomarkers are useful not only for diagnosis of some of these diseases but also for understanding the pathomechanism as well as a basis for development of therapeutics.

Biomarkers will facilitate the combination of therapeutics with diagnostics and will thus play an important role in the development of personalized medicine. Biomarkers play a role in use of pharmacogenetics, pharmacogenomics and pharmacoproteomics for development of personalized medicine.

Many of the regulatory issues concerning biomarkers are related to genomics, proteomics, molecular diagnostics and pharmacogenomics/pharmacogenetics. Validation of biomarkers and their role in clinical trials is discussed.

Biomarker markets are estimated from 2011 to 2021 according to share of markets for various technologies and applications: proteomics, metabolomics, molecular diagnostics, drug discovery, clinical trials, and bioinformatics. Market values are further split according to therapeutic applications and major geographical areas. Unfulfilled needs in biomarkers are identified as well as the drivers for biomarker markets. Challenges facing the biomarker industry and strategies for developing biomarker markets are discussed.

A large number of companies with varying technical backgrounds are involved in biomarkers and 279 of these are profiled in part 2 of the report with classification into various categories.These also include major pharmaceutical companies. There is tabulation of 518 collaborations between companies and additional academic collaborations are mentioned in the individual profiles of companies. The report is supplemented by 1,000 references, 66 tables and 13 figures

TABLE OF CONTENTS

0. Executive Summary 21

1. Introduction 23

Definitions 23

Historical aspects of biomarkers 23

Classification of biomarkers 24

Biological marker as response to therapeutic intervention 25

Pharmacokinetic/pharmacodynamics biomarkers 25

Predictive biomarkers 25

Valid biomarkers 26

Types of biomarkers 26

Genes as biomarkers 26

Proteins as biomarkers 27

Proteomics 27

DNA biomarkers 28

Mitochondrial DNA 28

Mitochondrial mutations 28

RNA biomarkers 28

Transcriptomics 29

MicroRNAs 30

Metabolomics 30

Glycomics 30

Single nucleotide polymorphisms 31

Haplotyping 31

Cell biomarkers of disease 32

Stem cell biomarkers 32

Association of stem cell biomarkers with disease 32

Cancer stem cell biomarkers 33

Endoglin as a functional biomarker of stem cells 33

p75NTR as a biomarker to isolate adipose tissue-derived stem cells 33

Protein expression profile as biomarker of stem cells 33

STEMPRO? EZChek? for analysis of biomarkers of hESCs 34

SSEA-4 as biomarker of MSCs 34

Gaseous mediators as biomarkers of disease 34

Autoantibodies as biomarkers of autoimmune diseases 34

Comparison of various types of biomarkers 35

Biomarkers and systems biology 36

Systems biology approach to biomarker identification 37

Relation of biomarkers to other technologies and healthcare 37

Biomarkers and translational medicine 38

Limitations of use of biomarkers in healthcare 38

2. Technologies for Discovery of Biomarkers 41

Introduction 41

The ideal biomarker 41

Genomic technologies 41

Gene expression 41

Whole genome expression array 42

Gene expression profiling on whole blood samples 43

Profiling gene expression patterns of white blood cells 43

Tissue microarrays for study of biomarkers 43

Epigenomic technologies 44

Discovery of methylation biomarkers 44

Proteomic technologies 45

2D GE 46

Biomarker Amplification Filter 47

CellCarta® proteomics platform 47

Isotope-coded affinity tags 48

Liquid chromatography-MS/MS 48

Lucid Proteomics System 48

Magnetics beads for protein biomarker discovery 49

MASStermind™ 49

Mass spectrometry 49

2D PAGE and mass spectrometry 50

Imaging mass spectrometry 50

MALDI mass spectrometry for biomarker discovery 51

Quantitative tandem MS 52

Single-molecule mass spectrometry using a nanopore 52

Requirements for MS-based proteomic biomarker development 53

Protein tomography 53

Protein biochips/microarrays and biomarkers 53

Antibody-based biomarker discovery 54

Detection of biomarkers using peptide array technology 54

Discovery of biomarkers by MAb microarray profiling 54

Protein nanobiochip 55

Gene expression microarray data as a source of protein biomarkers 55

Quantification of protein biomarkers 55

Mass spectrometry for quantification of protein biomarkers 55

Real-time PCR for quantification of protein biomarkers 56

CyTOF for quantification of biomarkers 56

Search for biomarkers in body fluids 56

Challenges and strategies for discovey of protein biomarkers in plasma 57

3-D structure of CD38 as a biomarker 58

BD™ Free Flow Electrophoresis System 58

Isotope tags for relative and absolute quantification 58

Plasma protein microparticles as biomarkers 59

Proteome partitioning 59

Stable isotope tagging methods 60

Technology to measure both the identity and size of the biomarker 60

Targeted proteomic approaches 61

Biomarkers in the urinary proteome 61

Peptides in body fluids and tissues as biomarkers of disease 61

Analysis of peptides in bodily fluids 62

Serum peptidome patterns 62

SISCAPA method for quantitating proteins and peptides in plasma 63

Comparison of proteomic profiling technologies for discovery of biomarkers 63

Verification for interlaboratory reproducibility of protein biomarkers 63

Significance of similar protein biomarkers in different tissues 64

Glycomic technologies 65

Metabolomic technologies 65

Genome-wide association studies for identification of metabolic biomarkers 66

Lipid profiling 66

Mass spectrometry-based kits for discovery of metabolic biomarkers in plasma 66

Role of metabolomics in biomarker identification and pattern recognition 67

Urinary profiling by capillary electrophoresis 67

Validation of biomarkers in large-scale human metabolomics studies 67

Lipidomics 67

Disease biomarkers in breath 68

Portable breath test for volatile organic compounds 68

Detection of breath biomarkers by sensation technology 69

Detection of breath biomarkers optical frequency comb spectroscopy 69

Detection of breath biomarkers by infrared absorption spectroscopy 69

Fluorescent indicators for biomarkers 70

Molecular imaging technologies 70

Computer tomography 70

Magnetic resonance imaging 71

Positron emission tomography 71

Advantages of imaging biomarkers 72

Monitoring in vivo gene expression by molecular imaging 72

Molecular imaging in vivo as a biomarker 72

Challenges and future prospects of molecular imaging 73

Basic research in molecular imaging 73

Imaging intracellular NADH as a biomarker of disease 73

Devices for molecular imaging 74

Imaging biomarkers in clinical trials 74

Molecular imaging in clinical practice 74

Nuclear magnetic resonance 74

Chemical derivatization to enhance biomarker detection by NMR 75

Fluxomics by using NMR 75

Nanobiotechnology 75

Nanomaterials for biolabeling 76

Quantum dot molecular labels 77

Bioconjugated QDs for multiplexed profiling of biomarkers 77

Magnetic nanotags for multipley detection of biomarkers 78

Nanoproteomics and biomarkers 78

High-field asymmetric waveform ion mobility mass spectrometry 78

Nanoparticles for molecular imaging 78

Nanoparticles for discovering biomarkers 79

Nanosensors for measuring biomarkers in blood 79

Nanobiochip sensor technique for analysis of oral cancer biomarkers 80

Nucleoprotein nanodevices for detection of cancer biomarkers 80

Future prospects of application of nanobiotechnology for biomarkers 80

Bioinformatics 81

Biomarker Workflow Guide 81

Analysis of microarray data for selecting useful biomarkers 81

Role of bioinformatics in discovery of protein biomarkers 82

Role of bioinformatics in detection of cancer biomarkers 82

Biomarker databases 83

Gene networks as biomarkers 83

Role of bioinformatics in integrating various data and biomarker discovery 83

Evaluation of biomarker studies 84

3. Biomarkers and Molecular Diagnostics 85

Introduction 85

Molecular diagnostic technologies 85

Polymerase chain reaction 85

Amplification 85

Target selection 86

Detection of amplified DNA 86

Limitations of PCR 86

Real-time PCR systems 87

Limitations of real-time PCR 87

Future applications of real-time qPCR 88

Real-time qPCR for quantification of circulating mtDNA 88

Combined PCR-ELISA 88

Non-PCR methods 89

Linked Linear Amplification 89

Transcription mediated amplification 89

Rapid analysis of gene expression 89

WAVE nucleic acid fragment analysis system 90

DNA probes with conjugated minor groove binder 90

Rolling circle amplification technology 91

Gene-based diagnostics through RCAT 91

RCAT-immunodiagnostics 92

RCAT-biochips 92

RCAT-pharmacogenomics 92

Circle-to-circle amplification 92

Biochips and microarrays 93

Applications of biochips/microarrays 93

Role of biochip/microarrays in discovery of biomarkers 94

Biomarkers and high throughput molecular screening 94

Detection and expression profiling of miRNA 95

Real-time PCR for expression profiling of miRNAs 95

Use of LNA to explore miRNA 95

Microarrays for analysis of miRNA gene expression 96

4. Biomarkers for Drug Discovery & Development 97

Introduction 97

Biomarker technologies for drug discovery 98

Proteomics-based biomarkers for drug discovery 98

Chemoproteomics 98

Activity-based chemical proteomics 98

Transcriptomics for drug discovery 99

AvalonRx® drug discovery platform 99

Metabolomics for drug discovery 99

Biomarkers and drug safety 100

Biomarkers of adverse drug reactions 100

Applications of biomarkers in drug safety studies 101

Genomic technologies for toxicology biomarkers 101

Proteomic technologies for toxicology biomarkers 102

Metabonomic technologies for toxicology biomarkers 102

Integration of genomic and metabonomic data to develop toxicity biomarkers 102

Toxicology studies based on biomarkers 103

Biomarkers of hepatotoxicity 104

Biomarkers of nephrotoxicity 105

Cardiotoxicity 106

Neurotoxicity 107

Applications of biomarkers for drug development 107

Application of metabonomics/metabolomics for drug development 107

Role of pharmacokinetic/pharmacodynamic biomarkers in drug development 108

Molecular imaging as a biomarker in drug development 109

Molecular imaging in preclinical studies 109

Molecular imaging in clinical trials 110

Prospects of molecular imaging in drug discovery and development 111

Biomarkers in clinical trials 111

NIH recommendations on the use of biomarkers in clinical trials 112

Advantages of biomarkers for drug development 113

Limitations and problems with use of biomarkers in clinical trials 113

Application of biomarkers by the pharmaceutical companies 114

Use of biomarkers in relation to stage of drug discovery and development 115

Drug development in cardiovascular disorders 115

Drug development in neurological disorders 115

Future prospects of biomarker-based drug development 116

The Biomarker Alliance 116

Molecular Libraries and Imaging Roadmap of NIH 117

Biomarkers Consortium 117

Pharmacogenomic biomarker information in drug labels 118

Concluding remarks on the future trends in biomarker development 119

5. Role of Biomarkers in Healthcare 121

Introduction 121

Biomarkers of inflammation 121

ESR and CRP as biomarkers of inflammation 122

Biomarkers of oxidative stress 122

1,4-dihydroxynonane-mercapturic acid 122

Oxidative DNA damage 123

Proteins as biomarkers of oxidative stress in diseases 123

Testing for oxidative stress 123

Biomarkers in metabolic disorders 123

Biomarkers of acute intermittent porphyria 123

Liver X receptors 124

Biomarkers of diabetes mellitus 124

Biomarkers of hyperglycemia 125

Biomarkers of diabetes-associated oxidative stress 125

Biomarkers of inflammation associated with diabetes 126

Biomarkers of renal complications in diabetes mellitus type 2 126

Biomarkers of diabesity 126

Glycosylated hemoglobin in diabetes mellitus 126

Glycated albumin as a biomarker of diabetes mellitus 127

Lack of C-peptide as biomarker of complications of diabetes type 1 127

Serum retinol binding protein 4 as biomarker of insulin resistance 127

Biomarkers of metabolic syndrome 128

Adiponectin 128

Biomarkers in immune disorders 129

Biomarkers relevant to organ transplantation 129

Biomarkers of graft versus host disease 129

Biomarkers of renal allograft failure 130

Biomarkers of renal transplant tolerance 131

Biomarkers of lung transplant rejection 132

Systemic lupus erythematosus 132

Current management and need for biomarkers 132

Role of collaborative efforts and databases of SLE biomarkers 133

C4d-bearing reticulocytes 133

Adiponectin 133

CB-CAPS 133

HMGB1 134

Genetic loci of SLE 134

Epigenetic biomarkers of SLE 134

Biomarkers of musculoskeletal disorders 134

Biomarkers of rheumatoid arthritis 135

Circulating cytokines in RA 135

miRNA biomarkers in RA 135

Serum CRP in RA 136

Assays for biomarkers of RA 136

Biomarkers of spondylarthritis 136

Biomarkers of osteoarthritis 137

Biomarkers of osteoporosis 138

Dual x-ray absorptiometry 139

Bone imaging with quantitative CT and MRI 139

Assays for detection of biomarkers of osteoporosis 139

Biomarkers of osteonecrosis 139

Osteonecrosis in Gaucher's disease 139

Biomarkers of infectious diseases 139

Application of proteomics for discovering biomarkers of infections 141

Chemokines as biomarkers of infection 141

Circulating CPS-1 as biomarkers of organ damage in sepsis 141

CoQ10 level reduction in septic shock 142

Endotoxin as biomarker of infection 142

Nitric oxide as a biomarker of sepsis 142

Procalcitonin as a guide to antibiotic therapy in infections 143

Soluble urokinase plasminogen activator receptor 144

Systemic inflammatory response syndrome 144

Tuberculosis 144

Conventional diagnosis of tuberculosis 145

Molecular diagnostics for tuberculosis 145

Biomarkers for tuberculosis 146

Biomarkers of pulmonary tuberculosis in the breath 146

Biomarkers of viral infections 146

Viral hepatitis 147

Biomarkers of SARS 149

Biomarkers of HIV 149

Biomarkers in parasitic infections 150

Role of biomarkers in malaria 150

Identification of biomarkers in Schistosomiasis infections 151

Biomarkers of liver disease 151

Breath biomarkers of liver disease 151

Biomarkers of viral hepatitis B and C 152

Biomarkers of liver injury 153

Biomarkers of liver cirrhosis 153

FibroMax 153

Biomarkers of pancreatitis 153

Biomarkers of renal disease 154

Biomarkers of lupus nephritis 154

Biomarkers of diabetic nephropathy 154

Cystatin C as biomarker of glomerular filtration rate (GFR) 155

Estimated GFR and albuminuria as biomarkers of chronic kidney disease 155

Proteomic biomarkers of acute kidney injury 155

Biomarkers of pulmonary diseases 156

Biomarkers of oxidative stress in lung diseases 156

Biomarkers of acute lung injury and respiratory distress syndrome 157

Cytokine/chemokine biomarkers of SARS 157

Plasma biomarkers related to inflammation 157

Urinary NO as biomarker 157

Biomarkers of interstitial lung disease 158

Pulmonary surfactant proteins as biomarkers for lung diseases 158

Serum KL-6 as biomarker of interstitial lung disease 158

Biomarkers of chronic obstructive pulmonary disease 158

Alpha1-antitrypsin gene polymorphisms predisposing to emphysema 159

BNP as a biomarker of chronic pulmonary disease 159

Chromagranin A (CgA) as biomarker of airway obstruction in smokers 159

Gene expression profile in peripheral blood of patients with COPD 159

Increased expression of PIGF as a biomarker of COPD 159

Biomarkers of asthma 160

Biomarker for rhinovirus-induced asthma exacerbation 160

Biomarkers for predicting response to corticosteroid therapy 160

Comparison of biomarkers of asthma and COPD 160

Cytokines as biomarkers of asthma severity 161

Exaled NO as a biomarker of asthma 161

Endothelin-1 in exhaled breath as biomarker of asthma 162

IgE as guide to dosing of omalizumab for asthma 162

Periostin as a biomarker for treatment of asthma with lebrikizumab 162

Biomarkers for cystic fibrosis 163

Biomarkers of pulmonary embolism 163

D-dimer as biomarker of thromboembolism 163

BNP and cTnT as biomarkers of outcome in pulmonary embolism 164

Biomarkers in gynecology and obstetrics 164

Biomarkers of menopause 164

Biomarkers of premenstrual dysphoric disorder 165

Biomarkers of endometriosis 165

Biomarkers for preeclampsia 166

Protein biomarker of preeclampsia in urine 166

Protein biomarkers of preeclampsia in CSF 166

Protein HtrA1 as biomarker for preeclampsia 167

sFlt1 and soluble endoglin as biomarkers of preeclampsia 167

RNA biomarkers 168

Biomarkers of premature birth 168

Biomarkers of oxidative stress in complicated pregnancies 169

Fetal biomarkers in maternal blood 169

Biomarkers for genetic disorders 169

Biomarkers for Down's syndrome 169

Biomarkers for muscular dystrophy 170

Biomarkers of phenylketonuria 170

Genetic biomarkers for psoriasis 171

Biomarkers of lysosomal storage disorders 171

Biomarkers of aging 172

Effect of calorie restriction on biomarkers of longevity 174

Genes as biomarkers of aging 174

Mitochondrial mutations as biomarkers of aging 174

Telomere attrition as aging biomarker 174

Gene variants as determinants of biological age 175

Genetic signatures of longevity 175

Low serum thyroid hormone level as biomarker of longevity 175

Role of bioinformatics in search for biomarkers of aging 176

Study of biomarkers of aging in a genetically homogeneous population 176

Biomarkers of miscellaneous disorders 176

Biomarkers of inflammatory bowel disease 176

Biomarkers of erectile dysfunction 177

Biomarkers of fever 178

Biomarkers of heat stroke 178

Biomarkers of radiation injury 178

Biomarkers common to multiple diseases 179

Nasal nitric oxide as a biomarker of response to rhinosinusitis therapy 179

Biomarkers and nutrition 179

Biomarkers in nutritional epidemiology 179

Biomarkers of nutritional status 180

Biomarkers of branched chain amino acid status 180

Biomarkers of caloric restriction 180

Biomarkers of malnutrition 181

Proteomic biomarkers and nutrition 181

Vitamin deficiency as biomarker of disease 181

Vitamin D as a biomarker of disease 181

Vitamin B12 deficiency 182

Biomarkers of gene-environmental interactions in human disease 183

6. Biomarkers of Cancer 185

Introduction 185

The ideal biomarker for cancer 185

Single vs multiple biomarkers of cancer 186

Types of cancer biomarkers 186

HER3 as biomarker of cancer 187

DNA repair biomarkers 187

miRNAs as biomarkers in cancer 187

Circulating miRNAs for cancer detection 189

Diagnostic value of miRNA in cancer 189

Biomarkers of epigenetic gene silencing in cancer 189

Immunologic biomarkers of cancer 190

Molecular diagnostic techniques for cancer 190

Technologies for detection of cancer biomarkers 191

Genomic technologies for cancer biomarkers 191

Cold-PCR 191

Genome analysis at the molecular level 192

Sequencing-based approaches for detection of cancer biomarkers 192

Early detection of tumor suppressor gene mutations 192

Biomarkers of PTEN tumor suppressor gene status 193

HAAH as a biomarker for cancer 193

KRAS as a biomarker of cancer 194

Telomerase as a biomarker of cancer 194

Digital karyotyping for cancer biomarkers 194

LigAmp for detection of gene mutations in cancer 195

Mitochondrial DNA as a cancer biomarker 195

Tissue microarrays for study of cancer biomarkers 195

Molecular fingerprinting of cancer 196

Biomarkers of inflammation in cancer 197

Proteomic technologies for detecting biomarkers of cancer 197

2D PAGE 198

Antibody-based detection of protein biomarkers 198

Aptamer-based molecular probes for cancer biomarker discovery 199

Cancer immunomics to identify autoantibody signatures 199

Desorption electrospray ionization for detection of cancer biomarkers 200

Detection of circulating nucleosomes in serum of cancer patients 200

Detection of tumor markers with ProteinChip technology 200

eTag assay system for cancer biomarkers 201

Glycoprotein biomarkers of cancer 201

HER-2/neu oncoprotein as biomarkers for cancer 202

Humoral proteomics 202

Laser capture microdissection 202

Membrane-type serine protease-1 203

Phage display technology 203

Proteomic analysis of cancer cell mitochondria 203

Proteomic technologies for detection of autoimmune biomarkers 204

SELDI-TOF MS 204

Serum proteome analysis for early detection of cancer 204

Triple-quadrupole MS for detection of mutant proteins 205

Targeted MS for validation of cancer biomarkers in plasma 205

Tissue proteomics for discovery of cancer biomarkers 205

Metabolomic biomarkers of cancer 205

Choline phospholipid biomarkers of cancer 206

Hypoxia-inducible factor-1 206

Detection of drug resistance in cancer by metabolic profiling 207

Epitomics for the early detection of cancer 207

Detection of biomarkers of DNA methylation 207

PCR with bisulfite for detecting DNA methylation biomarkers in cancer 209

MDScan? microarray technology 210

Rubicon MethylPlex technology 210

Epigenomics Marker Machine for DNA methylation biomarkers 210

Sequenom's integrated genetic analysis platform 211

Histone deacetylase 211

Mucins as epigenetic biomarkers in epithelial cancers 211

Nanobiotechnology for early detection of cancer to improve treatment 212

Selective expression of biomarkers by cancer compared with normal tissues 212

Ultrasound radiation to enhance release of a tumor biomarker 212

In vivo imaging of cancer biomarkers 213

Computer tomography 213

Optical systems for in vivo molecular imaging of cancer 213

Positron emission tomography 213

Imaging of tumor oxygenation and microvascular permeability by MRI 214

Xenon-enhanced MRI 214

Kallikrein gene family and cancer biomarkers 214

Circulating cancer cells in blood as biomarkers of cancer 215

Applications of cancer biomarkers 216

Use of biomarkers for cancer classification 216

Cancer classification using microarrays 216

Proteomic classification of cancer 216

Use of biomarkers for early detection of cancer 216

Applications of biomarkers for cancer diagnosis 217

Methylated DNA sequences as cancer biomarkers 217

MicroRNA expression profiling for diagnosis of human cancers 218

MUC4 as a diagnostic biomarker in cancer 218

Applications of biomarkers for cancer diagnosis and therapy 218

Asparagine synthetase as biomarker for therapy with L-asparaginase 219

Peptide-based agents for targeting cancer biomarkers 219

Biomarkers for assessing efficacy of cancer therapy 220

ERCC1-XPF expression as a biomarker of response to chemotherapy 220

P53 expression level as biomarker of efficacy of cancer gene therapy 220

Biomarkers of angiogenesis for developing antiangiogenic therapy 220

Biomarkers of response to antiangiogenic agents 221

Circulating endothelial cells as targets for antiangiogenic drugs 221

Imaging biomarkers for evaluation of antiangiogenic agents 221

Tumor endothelial markers 222

VEGF signaling inhibitors as biomarkers 222

VEGF-PET imaging for analysis of angiogenic changes within a tumor 223

Biomarkers of prognosis in cancer treatment 223

Biomarkers of drug resistance in cancer 223

A systems approach to biomarkers of innate drug resistance 224

Epithelial membrane protein-1 as a biomarker of gefitinib resistance 224

Methylation biomarkers of drug resistance in cancer 224

STAT3 and resistance to cisplatin 225

Biomarkers of radiation therapy for cancer 225

Role of biomarkers in drug development in oncology 225

Molecular imaging of tumor as a guide to drug development 226

Use of PET to assess response to anticancer drugs 227

Use of MRI to assess response to anticancer drugs 227

Biomarkers in plucked hair for assessing cancer therapy 227

Molecular targets of anticancer drugs as biomarkers 228

Safety biomarkers in oncology studies 228

Role of biomarkers in phase I clinical trials of anticancer drugs 228

Biomarkers according to location/type of cancer 229

Bladder cancer biomarkers 229

Detection of FGFR3 mutations in urine for diagnosis of bladder cancer 229

NMP22 BladderChek 229

Urinary telomerase as biomarker for detection of bladder cancer 230

Concluding remarks abut biomarkers of urinary cancer 230

Brain tumor biomarkers 230

14-3-3zeta positive expression as a prognostic biomarker for GBM 231

Biomarkers to predict response to EGFR inhibitors 231

CD133 as biomarker of resistance to radiotherapy 231

Circulating microvesicles as biomarkers 232

CSF protein profiling 232

CSF attractin as a biomarker of malignant astrocytoma 232

Methylation profiling of brain tumors 232

Metabolite biomarkers of brain tumors 233

miRNAs as biomarkers of brain tumors 234

MRI biomarker for response of brain tumor to therapy 234

Multigene predictor of outcome in GBM 234

Neuroimaging biomarkers combined with DNA microarray analysis 235

Receptor protein tyrosine phosphatase ? as biomarker of gliomas 235

Serum protein fingerprinting 235

VEGF-R2 as biomarker of angiogenesis in brain tumors 236

Bone tumor biomarkers 236

Cytogenetics for the study of bone and soft tissue tumors 236

Biomarkers of Ewing's tumors 236

Role of biomarkers in the diagnosis of bone tumors 237

Breast cancer biomarkers 237

Autoantibody biomarkers of breast cancer 238

Biomarkers of breast cancer in breath 239

Biomarkers for breast cancer in nipple aspiration fluid 239

Circulating nucleic acid biomarkers of breast cancer 239

Flow cytometry for quantification of biomarker expression patterns 239

Plasma proteomics for biomarkers of breast cancer 240

Quantitative realtime PCR assays for biomarker validation 240

Cdk6 as a biomarker of breast cancer 241

Centromere protein-F 241

Carbonic anhydrase IX 241

COX-2 as a biomarker of breast cancer 242

Glycomic biomarkers of breast cancer 242

HER-2/neu oncoprotein 242

High mobility group protein A2 244

Hypermethylated genes as biomarkers of metastatic breast cancer 244

Lipocalin 2 as biomarker of breast cancer progression 244

Long intervening non-coding RNAs 245

Mammaglobin 245

miRNA biomarkers of breast cancer 245

p27 expression as biomarker for survival after chemotherapy 246

Podocalyxin 246

Progranulin as a biomarker of breast cancer 247

Proliferating cell nuclear antigen 247

Protein kinase C as a predictive biomarker of metastatic breast cancer 247

Retinoblastoma tumor suppressor gene as a biomarker 247

Riboflavin carrier protein 248

Risk of invasive cancer after diagnosis of ductal carcinoma in situ 248

Serum CA 15-3 as biomarker of prognosis in advanced breast cancer 249

Suppressor of deltex protein 249

Tumor microenvironment as biomarker of metastasis in breast cancer 249

Type III TGF-? receptor as regulator of cancer progression 249

Diagnostic tests based on breast cancer genes 250

Prognostic role of breast cancer genes 251

Protein biomarkers for breast cancer prevention 252

Biomarkers to evaluate efficacy of chemoprevention 252

Biomarkers of response to chemotherapy of breast cancer 252

Concluding remarks and future prospects of breast cancer biomarkers 253

Cervical cancer biomarkers 253

Gastrointestinal cancer biomarkers 255

Esophageal cancer biomarkers 255

Gastric cancer biomarkers 255

Colorectal cancer biomarkers 256

Head and neck cancer 261

Leukemia biomarkers 262

Chromosome translocations in leukemias 262

DNA methylation biomarkers in leukemia 263

Gene mutations as biomarkers in leukemia 263

Molecular diagnostic techniques for leukemia 263

Proteomic technologies for discovering biomarkers of leukemia 264

Biomarkers of chronic lymphocytic leukemia 264

Biomarkers of chronic myeloid leukemia 265

Biomarkers of drug resistance in leukemia 265

Biomarkers of myelodysplasitic syndromes 266

Lymphoma biomarkers 266

Liver cancer biomarkers 266

Lung cancer biomarkers 267

Autoantibodies as biomarkers in lung cancer 268

Biomarkers associated with neuroendocrine differentiation in NSCLC 269

Biomarkers of chronic inflammation in lung cancer 269

Biomarkers for predicting sensitivity to chemotherapy in lung cancer 269

Biomarkers for prediction of sensitivity to EGFR inhibitors 270

Circulating tumor cells as biomarkers 271

Gene expression profiling for biomarkers of lung cancer 271

Methylation biomarkers of lung cancer 272

miRNA biomarkers in lung cancer 272

Proteomic biomarkers in exaled breath condensate 273

Serum protein biomarkers of lung cancer 273

tNOX as biomarker of lung cancer 274

Tumor-derived DNA and RNA markers in blood 274

Volatile organic compounds in the exhaled breath 274

Malignant pleural mesothelioma 275

Melanoma biomarkers 275

Nasopharyngeal carcinoma biomarkers 277

Proteomic biomarkers of nasopharyngeal cancer 278

miRNA biomarkers of nasopharyngeal carcinoma 278

Oral cancer biomarkers 278

Ovarian cancer biomarkers 279

Epitomics approach for ovarian cancer biomarkers in serum 280

Gene expression studies in ovarian cancer 281

HE4 protein in urine as a biomarker for ovarian cancer 281

HtrA1 as a biomarker of response to chemotherapy in ovarian cancer 281

Mutation of genes in ovarian cancer 282

Serum biomarkers of ovarian cancer prognosis 282

Serum albumin-associated peptides and proteins 282

Multiplex assays for biomarkers of ovarian cancer 283

Concluding remarks on biomarker-based tests of ovarian cancer 284

Pancreatic cancer biomarkers 284

Discovery and validation of pancreatic cancer biomarkers 285

Cancer stem cells as biomarkers of pancreatic cancer 285

Histone modifications used as biomarkers in pancreatic cancer 285

miRNA biomarkers of pancreatic cancer 286

Parathyroid cancer biomarkers 287

Proteomic biomarkers of pancreatic cancer 287

Prostate cancer 288

Adipose tissue-derived biomarkers of obesity-related prostate cancer 289

B7-H3 as biomarker of prostate cancer 289

Cancer genetics-guided biomarker signatures of prostate cancer 289

Detection of prostate cancer biomarkers in urine 290

Detection of prostatic intraepithelial neoplasia 291

Epigenetic biomarkers of prostate cancer 291

Gene expression analysis of prostate cancer 291

Genetic biomarkers of prostate cancer 292

Huntingtin Interacting Protein 1 overexpression in prostate cancer 292

Id proteins expression in prostate cancer 293

Identification of prostate cancer mRNA biomarkers 293

Integrative genomic and proteomic profiling of prostate cancer 293

LCM for diagnosis of prostate cancer 293

Loss of p27 as predictor of recurrence of prostate cancer 294

Microarray for diagnosis of prostate cancer 294

miRNA biomarkers of prostate cancer 294

Prostate cancer biomarkers in semen 295

PSA as biomarker of prostate cancer 295

ProPSA as biomarker of prostate cancer 296

Prostate Health Index 296

Prostasomes in blood as biomarker of prostate cancer 296

PSMA as biomarker of prostate cancer 296

Sarcosine as a metabolic biomarker of prostate cancer 297

Serum HAAH as biomarker of prostate cancer 297

Silenced CDH13 gene as a biomarker of cancer 297

Serum-protein fingerprinting 297

Tests for prostate cancer based on genetic dislocations 298

Concluding remarks on biomarkers of prostate cancer 298

Renal cancer biomarkers 298

Gene expression profile of RCC for biomarkers 299

miRNA biomarkers of renal cancer 299

Use of proteomics for detection of RCC biomarkers 299

Use of RCC biomarkers for prognosis and therapy 300

Thyroid cancer biomarkers 300

Detection of BRAF mutation 301

Gene expression biomarkers of thyroid cancer 301

Multiple endocrine neoplasia type 2B as risk factor for thyroid cancer 301

miRNA biomarkers of thyroid cancer 302

Biochemical biomarkers of thyroid cancer 302

Role of the NCI in molecular diagnosis of cancer 302

The Cancer Genome Anatomy Project 302

Molecular profiling of cancer 303

Cancer Genome Atlas 303

Cancer Genetic Markers of Susceptibility Project 304

Oncology Biomarker Qualification Initiative 304

Role of NCI in cancer biomarker development and validation 304

Projects for cancer biomarker research in Europe 306

COBRED project 306

COLTHERES consortium 306

PREDICT Consortium 306

Future prospects for cancer biomarkers 307

Cancer biomarker research at academic institutions 307

Future prospects and challenges in the discovery of cancer biomarkers 307

7. Biomarkers of Disorders of the Nervous Syst

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