EIN Presswire: Brain Cancer Live Feed Press Releases

Siemens Forms New Companion Diagnostics Partnerships with ViiV Healthcare and Tocagen

Tue, 07 Feb 2012 16:33:24 +0000

Siemens Forms New Companion Diagnostics Partnerships with ViiV Healthcare and Tocagen

Siemens' move into the companion diagnostics market targets the development of novel diagnostics tests for physicians treating HIV and brain cancer

PR Newswire

RESEARCH TRIANGLE PARK, N.C., SAN DIEGO and TARRYTOWN, N.Y., Feb. 7, 2012 /PRNewswire/ -- Siemens Healthcare Diagnostics announces two new companion diagnostics partnerships with pharmaceutical companies ViiV Healthcare and Tocagen — marking a major step for Siemens (NYSE: SI) into this important and fast-growing segment of the in vitro diagnostics (IVD) market. Both partnerships intend to leverage the clinical trial and commercialization options within Siemens' CLIA laboratory, as well as Siemens' established IVD clinical and regulatory expertise.

(Logo: http://photos.prnewswire.com/prnh/20070904/SIEMENSLOGO )

Siemens' partnership with ViiV Healthcare will focus on clinical trials related to Celsentri/Selzentry® (maraviroc) — ViiV Healthcare's novel CCR5 co-receptor antagonist for the treatment of CCR5-tropic HIV — followed by potential commercialization of a diagnostics test to assist in patient selection prior to physician treatment decisions, subject to FDA approval. According to the World Health Organization, 33.3 million people worldwide were living with HIV as of 2009. That same year, 2.6 million new infections were reported and 1.8 million people worldwide died of AIDS-related illnesses.

The Siemens - Tocagen relationship will begin with diagnostic tests to support clinical trials related to Tocagen's unique viral gene therapy (Toca 511 & Toca FC) under investigation for the treatment of primary brain cancer, followed by potential commercialization of diagnostic tests for therapy monitoring, subject to FDA approval. According to the American Cancer Society, primary brain and central nervous system cancers are expected to account for 22,910 new cases and 13,700 deaths in 2012. Additionally, the National Institutes of Health estimates that 10-30% of all adults with cancer will develop brain metastases.

Widely considered a major step towards the vision of personalized healthcare, companion diagnostics are clinical tests linked to a specific drug or therapy intended to assist physicians in making treatment decisions for their patients. The technology and science behind the field allows pharmaceutical drug developers to identify subpopulations of patients more or less likely to respond favorably to a particular drug or therapy, and those more or less likely to experience unfavorable side effects.(1)The companion diagnostics market, worth an estimated $1.5 billion annually, is reportedly the fastest growing segment in the IVD industry, due largely to demand for safer, higher quality drugs.(2)

Complementing a move into next-generation sequencing, Siemens' companion diagnostics business will establish relationships with pharmaceutical companies to offer clinical trial expertise as well as diagnostic test development and commercialization. The company's CLIA-certified clinical lab in Berkeley, California is capable of offering a broad range of nucleic acids and immunoassay tests, as well as developing new test approaches as required.

"Siemens' presence in the emerging companion diagnostics market enables us to leverage our innovation capabilities and deep clinical knowledge to help improve pharmaceutical drug safety and effectiveness," said Michael Reitermann, CEO, Siemens Healthcare Diagnostics. "More so, it helps align Siemens with new classes of therapies tailored to the individual that hold the promise of improving patient care and delivering on the goal of personalized medicine."

ViiV Healthcare previously announced the start of the Phase III MODERN Study [Maraviroc Once daily with Darunavir Enhanced by Ritonavir in a Novel regimen], also known as A4001095, comparing its CCR5-inhibitor, Celsentri/Selzentry® (maraviroc), to emtricitabine/tenofovir (Truvada®), both in combination with darunavir/ritonavir. The 96-week trial will evaluate a two-drug versus three-drug once-daily regimen for the treatment of antiretroviral-naive patients infected with CCR5-tropic HIV-1.

In addition, MODERN is the first large Phase III trial that will compare the performance of a genotypic test with a phenotypic test in identifying patients appropriate for use of Celsentri/Selzentry®. Patients will be randomised to undergo screening with either the genotypic or phenotypic test. Genotypic tropism testing in the MODERN study is provided by Siemens Healthcare Diagnostics as part of this partnership and phenotypic testing (Trofile®) by Monogram Biosciences. Subject to FDA approval, Siemens Healthcare Diagnostics may commercialize their genotypic tropism diagnostic test.

"Our partnership with Siemens Healthcare Diagnostics is a valuable part of our commitment to addressing patient needs through developing innovative treatment approaches," said Dr. John Pottage, Chief Scientific and Medical Officer, ViiV Healthcare. "Celsentri/Selzentry is an important treatment option for people living with CCR5-tropic HIV and we continue to support the evolution of tropism testing to provide physicians with accurate, accessible and affordable companion diagnostics."

Tocagen is enrolling patients in its clinical trials of Toca 511 (vocimagene amiretrorepvec), for injection & Toca FC (flucytosine), extended-release tablets. These multicenter, open-label studies(3) are in patients with recurrent high-grade glioma, such as those with glioblastoma multiforme (GBM, Grade 4), who have had prior surgery and chemoradiation. Toca 511 is a retroviral replicating vector (RRV) that is designed to deliver a cytosine deaminase (CD) gene selectively to cancer cells. After allowing time for the administered Toca 511 to spread through the tumor, those cancer cells expressing the CD gene may convert the antibiotic flucytosine into the anti-cancer drug 5-fluorouracil (5-FU). In these studies, patients receive multiple cycles of oral Toca FC. Tocagen plans to work with Siemens Healthcare Diagnostics on the assays used during these clinical studies. Subject to FDA approval, Siemens may commercialize diagnostic tests capable of monitoring patient levels of Toca 511 and Toca FC.

"We believe that developing the necessary diagnostic tests with the right diagnostic partner is an important component for the successful commercialization of Toca 511 & Toca FC," said Harry E. Gruber, CEO, Tocagen Inc. "Siemens' capabilities in developing commercial viral assays in addition to their market presence in the diagnostics space make them an excellent complement to Tocagen's focus on the development and commercialization of viral gene transfer products to treat advanced cancer."

These partnerships reflect Siemens' efforts to expand its healthcare global presence by leveraging the power of in vivo and in vitro diagnostics to impact therapeutics – one goal of the recently launched Siemens Agenda 2013, a new two-year global initiative to further strengthen the innovative power and competitiveness of the Siemens Healthcare Sector.

(1) http://www.dddmag.com/article-Companion-Prospecting-91211.aspx (accessed on 10/6/11)
(2) http://www.prnewswire.com/news-releases/companion-diagnostics-world-market-outlook-2011-2021-130615878.html, http://www.visiongain.com (accessed on 10/6/11)
(3) http://clinicaltrials.gov/ct2/results?term=tocagen

ViiV Healthcare is a global specialist HIV company established by GlaxoSmithKline (LSE: GSK.L) and Pfizer (NYSE: PFE) to deliver advances in treatment and care for people living with HIV. Our aim is to take a deeper and broader interest in HIV/AIDS than any company has done before, and take a new approach to deliver effective and new HIV medicines as well as support communities affected by HIV. For more information on the company, its management, portfolio, pipeline and commitment, please visit: www.viivhealthcare.com.

Tocagen Inc. is a privately funded, clinical stage biopharmaceutical company pursuing the discovery, development and commercialization of gene transfer products for the treatment of cancer. Tocagen is initially focusing on treatments for patients with advanced cancer for whom no adequate treatments currently exist. Toca 511 & Toca FC, the company's lead investigational combination product candidate, is being evaluated in clinical trials in patients with recurrent high grade glioma (such as glioblastoma multiforme). Tocagen has received grant support from leading brain cancer foundations including, Accelerate Brain Cancer Cure (ABC2), the American Brain Tumor Association (ABTA), and the National Brain Tumor Society (NBTS). For more information about Tocagen or Toca 511 please visit: www.tocagen.com.

The Siemens Healthcare Sector is one of the world's largest suppliers to the healthcare industry and a trendsetter in medical imaging, laboratory diagnostics, medical information technology and hearing aids. Siemens offers its customers products and solutions for the entire range of patient care from a single source – from prevention and early detection to diagnosis, and on to treatment and aftercare. By optimizing clinical workflows for the most common diseases, Siemens also makes healthcare faster, better and more cost-effective. Siemens Healthcare employs some 51,000 employees worldwide and operates around the world. In fiscal year 2011 (to September 30), the Sector posted revenue of 12.5 billion euros and profit of around 1.3 billion euros. For further information please visit: www.siemens.com/healthcare.

SOURCE Siemens Healthcare Diagnostics

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

Discovery Predicts Patient Sensitivity to Important Drug Target in Deadly Brain Cancer

Mon, 06 Feb 2012 20:00:00 +0000

Discovery Predicts Patient Sensitivity to Important Drug Target in Deadly Brain Cancer

Study may aid in development of improved therapies for glioblastoma

PR Newswire

GRAND RAPIDS, Mich., Feb. 6, 2012 /PRNewswire/ -- A recent discovery by Van Andel Research Institute (VARI) scientists enables the prediction of patient sensitivity to proposed drug therapies for glioblastoma – the most common and most aggressive malignant brain tumor in humans.

The study, published in January in the Proceedings of the National Academy of Science, investigated glioblastoma models characterized by cell signaling activation and gene amplification for their susceptibility to inhibitors of both the human MET oncogene and the epidermal growth factor receptor (EFGR).

An oncogene is a gene with the potential to cause cancer. In tumor cells, they are often mutated or expressed at high levels. High MET levels often occur in human tumors, and cells with inappropriate MET signaling produce activity that potently affects the spread of cancer.

Mutations affecting EGFR expression or activity are also linked to cancer.

"Because oncogene MET and EGFR inhibitors are in clinical development against several types of cancer, including glioblastoma, it is important to identify predictive markers that indicate patient subgroups suitable for such therapies," said VARI Research Scientist Qian Xie, Ph.D., lead author of the study.

"Studies have shown that targeting MET signaling can have potent antitumor effects," said Co-Author George F. Vande Woude, Ph.D., Head of the VARI Laboratory of Molecular Oncology. "Therefore, it is important to understand the mechanisms leading to HGF/MET sensitivity and to identify the patient subgroups most likely to benefit from MET-targeted therapeutics."

Dr. Vande Woude's career can be characterized by the uniquely broad scope of his work with MET and its molecular partner hepatocyte growth factor (HGF) —from the original cloning and characterization of the gene, through explaining the role of the HGF/ MET signaling pathway in human cancers. Because MET and HGF play such an integral role in the process of cell survival, growth, blood vessel formation, and metastasis, they are a significant target in the development of anti-cancer drugs.

Dr. Vande Woude is also the co-author of an article published last week in Nature Reviews Cancer entitled "Targeting MET in cancer: rationale and progress," which updates the progress of MET and HGF as targets in the development of anti-cancer drugs.

FOR FULL RELEASE VISIT:

www.vai.org

LINKS TO PAPERS:

http://www.pnas.org/content/109/2/570.full?sid=9fd02a21-ddd0-4a1f-8392-35f636affe19

http://www.nature.com/nrc/journal/v12/n2/full/nrc3205.html#top

SOURCE Van Andel Institute

Accelerate Brain Cancer Cure and Exosome Diagnostics Collaborate to Advance Clinical Studies of Exosome Biofluid Molecular Diagnostics Technology in Brain Cancer

Mon, 06 Feb 2012 13:00:00 +0000

Accelerate Brain Cancer Cure and Exosome Diagnostics Collaborate to Advance Clinical Studies of Exosome Biofluid Molecular Diagnostics Technology in Brain Cancer

PR Newswire

WASHINGTON and NEW YORK, Feb. 6, 2012 /PRNewswire/ -- Accelerate Brain Cancer Cure (ABC2) and Exosome Diagnostics are collaborating with leading academic medical centers to accelerate clinical validation of Exosome's blood and cerebrospinal fluid-based molecular diagnostics technology in brain cancer.

The collaboration will explore the capabilities of Exosome RNA biofluid-based diagnostic technology for early identification, progression monitoring and disease risk stratification in glioma, the most common form of brain cancer.

Brain cancer is the leading cause of death among children and young adults under age 20. This year, more than 200,000 people in the United States will be diagnosed with either a primary or metastatic brain tumor. There are more than 120 different types of brain tumors, making specific diagnosis and effective treatment extremely complicated. In many cases, accessing brain tissue via biopsy carries significant risk or is not surgically feasible. The ability to sample a brain cancer's genetic characteristics through a blood or cerebrospinal fluid sample could contribute greatly to driving advances in clinical treatment and drug development.

This collaboration will bring together world-leading clinicians, researchers and industry participants to develop the potential of stable, high-quality disease-specific RNA harvested from exosomes found in blood and cerebrospinal fluid. The joint effort will support near-term, in-vitro diagnostic validation of known tumor and immune-derived clinical biomarkers for brain cancer.

"We are impressed with the catalytic approach of Exosome Diagnostics and our academic partners," said Max Wallace, chief executive officer of Accelerate Brain Cancer Cure. "The ability to identify and track specific pathway mutations over time could significantly improve brain cancer patient care."

As early as 2007, Exosome Diagnostics' researchers from Massachusetts General Hospital reported detecting key gene mutations in the blood of brain cancer patients. Subsequent studies involving a multi-center investigative effort led by Dr. Bob S. Carter, professor and chief of neurosurgery at University of California, San Diego, and Drs. Fred Hochberg and Xandra Breakefield of Massachusetts General Hospital, have shown blood and cerebrospinal fluid exosome populations containing virtually the entire disease-specific population of the transcriptome can be accessed safely multiple times, from diagnosis through tumor progression, without the need for a surgical procedure. These studies were conducted as part of Exosome Diagnostics' neuro-degenerative disease program examining biofluid-based exosomes for tumor and immune response genetic abnormalities in brain cancer, Alzheimer's disease and traumatic brain injury patients.

"Accessing the stable RNA contained in blood and CSF exosomes gives us a significant advantage when it comes to detecting and understanding genetic changes inside the brain compartment caused by a tumor or immune response without the need for surgical biopsy," added James McCullough, chief executive officer of Exosome Diagnostics. "Collaborating with ABC2 helps ensure we are asking the right questions and structuring our clinical studies properly from the beginning for this first critical disease target in our neuro-degenerative disease program."

Dr. Bob Carter noted, "We are excited about the prospects of this model for collaboration involving a leading foundation, academic partners, and Exosome Diagnostics. By leveraging the strengths of each arm of this triad, we will be able to more quickly bring tumor specific genetic information into the hands of practicing clinicians."

In January, ABC2 and Exosome Diagnostics hosted the first in a series of meetings with leading investigators to discuss the state of the brain cancer field, the prospective near and long-term clinical applications of exosome technology, performance requirements and barriers to clinical validation. Participating in the New York City meeting were senior principal investigators from leading academic institutions including the University of California, San Diego, Harvard Medical School and Massachusetts General Hospital, Memorial Sloan-Kettering Cancer Center, Johns Hopkins, Yale University, MD Anderson Cancer Center, Mt. Sinai Hospital, Henry Ford Hospital, University of Miami, University of Florida and Dana-Farber Cancer Institute.

About ABC2 (Accelerate Brain Cancer Cure)
Accelerate Brain Cancer Cure invests in research aimed at finding the fastest possible route to a cure. By applying an aggressive, venture funding approach, not typically seen in the nonprofit sector, ABC² closes current gaps in funding to catalyze research and rapidly bring new therapies to patients. With its proven business know-how, ABC² makes connections that break down the silos between industry, government and academic research to fast-track drug development.

About Exosome Diagnostics
Exosome Diagnostics is a leading developer of biofluid based molecular diagnostic tests for use in personalized medicine. Exosomes are shed into all biofluids, including blood, urine, and CSF, forming a stable source of intact, disease-specific nucleic acids. The Company's proprietary exosome technology makes use of this natural stability to achieve high sensitivity for rare gene transcripts and the expression of genes responsible for cancers and other diseases. The Company is commercializing in-vitro diagnostic tests for use in companion diagnostic applications and real-time monitoring of disease. The Company maintains facilities in New York, St. Paul, MN and Munich, Germany. For more information, please visit www.exosomedx.com.

SOURCE Exosome Diagnostics; Accelerate Brain Cancer Cure

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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St. Jude Children's Research Hospital Celebrates 50 Years

Sat, 04 Feb 2012 13:00:00 +0000

St. Jude Children's Research Hospital Celebrates 50 Years

PR Newswire

Tennessee Governor Proclaims February as St. Jude Month

MEMPHIS, Tenn., Feb. 4, 2012 /PRNewswire-USNewswire/ -- In 1962, St. Jude Children's Research Hospital opened its doors amid an emotionally charged debate regarding how to treat childhood cancer. At that time, few children with the most common form of childhood cancer survived, and many physicians believed treatment was futile. St. Jude physicians and researchers took a radically different approach, and these efforts proved pivotal in changing the way the world treats childhood cancer. St. Jude is recognized for playing a significant role in improving overall survival rates for childhood cancer, which have increased from 20 percent in 1962 to 80 percent today.

In recognition of this impact over the past 50 years, Tennessee Gov. Bill Haslam declared February "St. Jude Month" in the state of Tennessee. Founded by the late entertainer Danny Thomas, the hospital opened February 4, 1962.

"In the nearly four decades I've been at St. Jude, I've had the privilege of watching the organization grow from one star-shaped building to a sprawling campus of about 2.5 million square feet of research, clinical and administrative space," said Dr. William E. Evans, St. Jude director and CEO. "When I started, there were a few hundred people on staff. Now we have more than 3,700 employees. Driven by our patients, and thanks to our employees, our colleagues at ALSAC and the public support they generate, St. Jude will only continue to grow and flourish in the years to come."

The history of St. Jude is marked with milestones in the treatment of pediatric cancer and other childhood illnesses. In 1971, St. Jude investigators showed that the combination of chemotherapy and radiation cured at least half of all children with acute lymphoblastic leukemia (ALL). The most common form of childhood cancer, ALL, was previously considered almost universally fatal. Today, St. Jude patients with ALL have a 94 percent survival rate.

In 1984, a St. Jude patient with sickle cell disease was the first to be cured with a bone marrow transplant.

St. Jude is currently engaged in the largest effort in the world to do whole genome sequencing of pediatric cancer tumors. The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project collaboration has already produced significant new findings related to aggressive forms of pediatric leukemia, eye tumors and brain tumors.

"St. Jude has a legacy of taking on the toughest of pediatric cancer questions, and that focus won't change," said James R. Downing, M.D., scientific director and deputy director at St. Jude. "We're uniquely positioned as an institution to move research and treatment ahead. From the genetic data we collect from the genome project, we're creating the foundation of knowledge to deliver the next decades' childhood cancer discoveries and treatments."

Throughout its five decades, St. Jude research has included work in cancer biology and genomics, pharmacogenomics, gene therapy, bone marrow transplant, drug discovery, radiation treatment, blood diseases and infectious diseases, integrated into a long series of innovative clinical trials.

According to Joseph Laver, M.D., St. Jude clinical director, "the unsurpassed family-centered care that is provided at St. Jude stems from the multidisciplinary team approach that has been a hallmark of St. Jude since the doors opened in 1962."

"Looking toward the future, St. Jude is a national resource with a global mission and will continue to enhance its leadership as a resource for children with cancer and other catastrophic diseases," Evans said. "Even though we've grown significantly, our mission has never wavered. We've created a collaborative culture whose team members demonstrate unceasing compassion for our patients and families, innovation in our treatment and research, and quality in everything we do."

St. Jude Recognitions

1995	Charles Sherr, M.D., Ph.D., of St. Jude Tumor Cell Biology, is elected into the National Academy of Sciences.
1996	Peter C. Doherty, Ph.D., then chair of the St. Jude Department of Immunology, wins the Nobel Prize for Physiology or Medicine for his work that led to a better understanding of the immune response.
2006	St. Jude is named the No. 1 "Best Place to Work in Academia" by The Scientist magazine.
2007	St. Jude is designated one of six Centers of Excellence for Influenza Research and Surveillance by the National Institute of Allergy and Infectious Diseases, a part of the National Institutes of Health.
2008	St. Jude is designated as a National Cancer Institute Comprehensive Cancer Center, making it the first and only cancer center solely focused on pediatric cancer to receive this distinction.
2009	Parents magazine names St. Jude as the No. 1 pediatric cancer care hospital in the country, based on the magazine's survey of more than 100 children's hospitals.
2009	St. Jude scientists who represent the interdisciplinary team studying ALL receive the Team Science Award from the American Association for Cancer Research.
2010	Nurses and staff in the Intensive Care Unit at St. Jude are recognized in 2009 and 2010 by the American Association of Critical-Care Nurses with the Beacon Award for Critical Care Excellence.
2010	St. Jude is named the nation's top children's cancer hospital, according to the 2010-11 Best Children's Hospitals rankings published by U.S. News & World Report.
2012	In 2011 and 2012, St. Jude is named one of the country's "100 Best Companies to Work For," by FORTUNE magazine.

St. Jude Children's Research Hospital
Since opening 50 years ago, St. Jude Children's Research Hospital has changed the way the world treats childhood cancer and other life-threatening diseases. No family ever pays St. Jude for the care their child receives and, for every child treated here, thousands more have been saved worldwide through St. Jude discoveries. The hospital has played a pivotal role in pushing U.S. pediatric cancer survival rates from 20 to 80 percent overall, and is the first and only National Cancer Institute-designated Comprehensive Cancer Center devoted to children. It is also a leader in the research and treatment of blood disorders and infectious diseases in children. St. Jude was founded by the late entertainer Danny Thomas, who believed that no child should die in the dawn of life. Join that mission by visiting www.stjude.org or following us on www.facebook.com/stjude. Follow us on Twitter @StJudeResearch.

SOURCE St. Jude Children's Research Hospital

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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Study Published in Neuro-Oncology Journal Shows Brain Tumor Eradication and Prolonged Survival in Mice Treated With Toca 511 and 5-FC

Fri, 03 Feb 2012 13:00:00 +0000

Study Published in Neuro-Oncology Journal Shows Brain Tumor Eradication and Prolonged Survival in Mice Treated With Toca 511 and 5-FC

PR Newswire

SAN DIEGO, Feb. 3, 2012 /PRNewswire/ -- Tocagen Inc. today announced the publication of data showing the company's investigational treatment for high grade glioma eradicates brain tumors and provides a dramatic survival benefit in mouse models of glioblastoma. Almost all mice receiving the top dose of Toca 511 followed by 5-FC were still alive at 180 days, which was the termination date for the experiment, whereas all control mice died by day 43. The article was published today in the February issue of the Neuro-Oncology journal.

"After administration of Toca 511, the efficiency and specificity of viral spread through the tumor in an immune-competent animal model was impressive," said John Coffin, Ph.D., American Cancer Society Professor at the Sackler School of Biomedical Sciences at Tufts University and Special Advisor to the Director, HIV Drug Resistance Program, Center for Cancer Research, National Cancer Institute. "As a career retrovirologist and advisor to the scientists at Tocagen, I am pleased to see the progress they have achieved with their retroviral replicating vector technology, and I look forward to seeing how this approach translates in humans with advanced cancer."

The results published in Neuro-Oncology showed that Toca 511 delivers a pro-drug activating gene to tumor cells where it converts the pro-drug 5-FC (flucytosine) into the anti-cancer drug 5-fluorouracil. Treatment with the high doses of Toca 511 resulted in elimination of tumors in most animals after dosing with 5-FC. The combination treatment of Toca 511 and 5-FC was well tolerated and did not cause toxicity over the course of the six month treatment protocol.

"Because of the invasive nature of glioblastoma, cancer cells are typically left behind after surgery, even with a 'complete' resection, making tumor re-growth almost inevitable," said Santosh Kesari, M.D., Ph.D., director of Neuro-Oncology in the Moores Cancer Center and in the Department of Neurosciences at the University of California, San Diego, one of the investigators in the Toca 511 clinical study. "There is an urgent need for new treatments that can eliminate residual cancer cells in patients with glioblastoma and other invasive gliomas. These preclinical results are very promising and provided the support for initiating human clinical trials of Toca 511."

About Toca 511 & Toca FC

The combination of Toca 511 (vocimagene amiretrorepvec), for injection & Toca FC (flucytosine), extended-release tablets is being investigated at leading centers across the US in clinical studies in patients with recurrent high grade glioma, including glioblastoma multiforme (GBM). Toca 511 is a retroviral replicating vector (RRV) that is designed to deliver a prodrug activator gene called cytosine deaminase (CD) selectively to cancer cells. After allowing time for Toca 511 to spread through the tumor, those cancer cells expressing the CD gene can convert the anti-biotic drug flucytosine into the anti-cancer drug 5-fluorouracil (5-FU). In these studies, patients receive a single administration of Toca 511 at the time of surgery (craniotomy or biopsy) followed by multiple cycles of oral Toca FC.

About Tocagen

Tocagen Inc. is a privately funded, clinical stage biopharmaceutical company pursuing the discovery, development and commercialization of gene transfer products for the treatment of cancer. Tocagen is initially focusing on treatments for patients with advanced cancer for whom no adequate treatments currently exist. Toca 511, the company's lead investigational product candidate, is being evaluated in clinical trials in patients with recurrent high grade glioma (such as glioblastoma multiforme). Tocagen has received grant support from leading brain cancer foundations including, Accelerate Brain Cancer Cure (ABC2), the American Brain Tumor Association (ABTA), and the National Brain Tumor Society (NBTS). For more information about Tocagen or Toca 511 please visit www.tocagen.com or www.clinicaltrials.gov.

SOURCE Tocagen Inc.

Tumeric and Curcumin Offer Powerful Anti-Cancer Health Benefits Naturally

Thu, 02 Feb 2012 19:16:00 +0000

Tumeric and Curcumin Offer Powerful Anti-Cancer Health Benefits Naturally

Inexpensive and widespread tumeric and curcumin spice offer many health benefits

PR Newswire

PHILADELPHIA, Feb. 2, 2012 /PRNewswire/ -- Commonly used in many Eastern countries, turmeric has been found to suppress cancer growth and reduce brain tumors by an astounding 81% without evidence of toxicity. While the benefits of turmeric are just coming to light within the mainstream and alternative media, it has been known for quite some time that this inexpensive spice can profoundly improve biological function.

(Logo: http://photos.prnewswire.com/prnh/20120202/PH46512LOGO )

Curcumin, a natural phenol and derivative of turmeric, may be responsible for many of these effects -- particularly the anti-cancer benefits. Used by ancient Chinese and Indian systems of medicine, curcumin has been shown to reduce brain tumor size by 81% in 9 out of 11 studies. With the research published in the July edition of the Journal of Nutritional Biochemistry, scientists found that curcumin dramatically decreased the size of brain tumors by 81% in 9 out of 11 studies without evidence of toxicity.

Additional research has found that turmeric and curcumin also inhibit the spread of cancer by actually blocking a key enzyme responsible for its growth. Given chewable curcumin supplements containing 1,000 milligrams of curcumin each, 21 study participants with head and neck cancer experienced a halt in cancer spread after intake. Conducted by the UCLA, the results were examined by an independent lab in Maryland which confirmed that curcumin supplements ultimately stopped the spread of malignant cancer cells.

Curcumin gives turmeric its unique color, and each 100 grams of turmeric contains 3 to 5 grams of the compound. Some health experts believe that turmeric will soon reach the popularity level of vitamin D, which is now almost universally recognized as a fantastic health-promoting substance.

"Turmeric and curcumin are both extremely cheap methods of boosting your health, and are readily available almost worldwide. The ubiquitous nature of turmeric both in the form of supplementation and spice sets up turmeric to be the next vitamin D over the next few years. As more medical professionals begin to recognize the benefits of turmeric and curcumin, a major media blitz will follow as it did regarding the multiple known effects of vitamin D," said Mike Barrett, Co-Founder of alternative health organization Natural Society.

Both turmeric and curcumin can be purchased as a spice, or in the form of supplementation.

SOURCE NaturalSociety

Nitric Oxide - Therapeutics, Markets and Companies

Thu, 02 Feb 2012 08:59:14 +0000

Nitric Oxide - Therapeutics, Markets and Companies

PR Newswire

NEW YORK, Feb. 2, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Nitric Oxide - Therapeutics, Markets and Companies

http://www.reportlinker.com/p0203547/Nitric-Oxide---Therapeutics-Markets-and-Companies.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Pathology

This report describes the latest concepts of the role of nitric oxide (NO) in health and disease as a basis for therapeutics and development of new drugs. Major segments of the market for nitric oxide-based drugs are described as well as the companies involved in developing them.

Nitric oxide (NO) can generate free radicals as well as scavenge them. It also functions as a signaling molecule and has an important role in the pathogenesis of several diseases. A major focus is delivery of NO by various technologies. Another approach is modulation of nitric oxide synthase (NOS), which converts L-arginine to NO. NOS can be stimulated as well as inhibited by pharmacological and gene therapy approaches.

Important therapeutic areas for NO-based therapies are inflammatory disorders, cardiovascular diseases, erectile dysfunction, inflammation, pain and neuroprotection. The first therapeutic use of NO was by inhaltion for acute respiratory distress syndrome (ARDS). NO-donors, NO-mimics and NOS modulators are described and compared along with developmental status. NO-related mechanisms of action in existing drugs are identified.

Various pharmacological approaches are described along with their therapeutic relevance. Various approaches are compared using SWOT (Strengths, Weaknesses, Opportunities, Threats) analysis. NO-based therapies are compared with conventional approaches and opportunities for combination with modern biotechnology approaches are described.

Share of drugs where NO is involved in the mechanism of action is analyzed in the worldwide pharmaceutical market for 2011 and is projected to 2016 and 2021 as new drugs with NO-based mechanisms are introduced into the market. Various strategies for developing such drugs are discussed.

Several companies have a product or products involving NO and free radicals. The report includes profiles of 39 companies involved in this area of which 12 have a significant interest in NO-based therapeutics. Other players are pharmaceutical and biotechnology companies as well as suppliers of products for NO research. Unfulfilled needs in the development of NO-based therapeutics are identified. Important 19 collaborations in this area are tabulated.

As of the end of 2010, there are over 100,000 publications relevant to NO. Selected 500 references are included in the bibliography. The text is supplemented with 26 tables and 25 figures.It is concluded that the future prospects for NO-based therapies are bright and fit in with biotechnology-based approaches to modern drug discovery and development. It is anticipated that some of these products will help in meeting the unfulfilled needs in human therapeutics.

TABLE OF CONTENTS

0. Executive Summary 13

1. Introduction 15

Nitric oxide 15

Historical aspects 15

Free radicals 16

Nitrogen cycle and NO 16

Role of NO in biology and medicine 17

Nitric oxide synthase 18

Structure and function NOS 18

Inducible nitric oxide synthase 19

iNOS gene 19

Regulation of iNOS 19

Regulation of endothelial nitric oxide synthase 20

Interaction between eNOS and other proteins 20

Tetrahydrobiopterin 21

NOS-independent NO generation and circulation 21

Entero-salivary circulation of nitrate 21

Methods of study of NO and NOS 22

Bioimaging of NO 22

Assays of NO in tissues 22

Metabolomics approach to study of NO metabolism 23

2. Nitric Oxide Pathways 25

Introduction 25

Mechanisms action of NO 26

NO-cGMP pathway 26

Nitrate-nitrite-NO pathway 27

Soluble guanylyl cyclase as the NO receptor 27

Oxidative stress pathways 27

NO and oxidative stress 28

Oxidative stress and the NO-cyclic GMP signal transduction pathway 28

NO and platelets 30

Mitochondrial NO-cytochrome c oxidase signaling pathway 30

Nitric oxide and cytochrome c oxidase 31

Dual role of NO as a free radical and a scavenger 32

NO and carbon monoxide 32

NO signaling and apoptosis 33

3. Role of NO in Physiology 35

Homeostasis of NO 35

Role of NO in adaptation to high altitude 35

NO as a biomarker 36

Functions of NO in various systems of the body 36

NO and proteins 37

A proteomic method for identification of cysteine S-nitrosylation sites 37

Protein S-nitrosylation and intracellular transport processes 37

Cellular inactivation NO by iNOS aggresome formation 37

NO and mitochondria 38

Mitochondrial permeability and reperfusion injury 39

Endocrine role of NO 39

Role of NO in the cardiovascular system 39

NO and atrial natriuretic peptide 40

NOS in the cardiac myocyte 40

NO and the autonomic control of the heart rate 41

NO and vasodilatation 42

Role of NO in the plasma compartment 43

Measurement of NO as a biomarker of cardiovascular function 43

Hemoglobin, oxygen and nitric oxide 44

Myoglobin and NO 45

NO and pulmonary circulation 45

Role of NO in the regulation of hypoxic pulmonary vasoconstriction 46

Role of NO in the nervous system 46

Neurovascular coupling of COX-2 and nNOS 47

Neuroglobin 47

Acute actions of NO in the CNS pathways 48

Role of NO in memory and learning 48

Role of NO in synaptic plasticity 48

Role of NO in the peripheral nervous system 49

Role of NO in the cochlea 49

NO and neuroendocrine function 49

NO and pregnancy 49

Role of NO in penile erection 50

Role of NO in immune regulation 50

Role of NO in temperature regulation 51

Role of NO in gastrointestinal system 51

Role of NO in kidney function 51

Role of NO in liver 52

Role of NO in the skin 52

4. Role of NO in Diseases 55

Introduction 55

Cytotoxicity of reactive nitrogen species 55

Peroxynitrite, mitochondria and cell death 55

Diseases involving oxidative stress and nitric oxide 57

Stress-related disorders 58

Role of NO in allergic disorders 58

Inflammatory diseases 58

Autoimmune disorders 59

Role of NO in rheumatoid arthritis 60

Role of NO in infections 60

NO-mediated cytoprotection in bacteria 61

Trypanosomiasis 62

Malaria and iNOS polymorphism 62

Susceptibility of Mycobacterium leprae to NO 62

Role of NO in the treatment of tuberculosis 63

Septic shock 63

Viral infections 64

Role of NO in anaphylactic shock 64

Role of NO in anemia and hypoxia 65

Role of NO in neurological disorders 65

Neurodegenerative diseases 65

NO-induced mitochondrial dysfunction in neurodegeneration 66

White matter disorders 66

Amyotrophic lateral sclerosis 67

Alzheimer's disease 67

Role of NO in pathophysiology of Alzheimer's disease 67

Role of ApoE genotype 70

Parkinson's disease 70

Traumatic brain injury 72

Epilepsy 73

Stroke 73

Pathophysiology of cerebral ischemia 73

Role of NO in cerebral ischemia 74

eNOS gene polymorphisms as predictor of cerebral aneurysm rupture 76

Role of NO in assessment of cerebral and retinal blood flow 76

Role of NO in neuroprotection 76

Stroke and heart disease 76

Role of NO in peripheral neuropathy 77

iNOS induction in experimental allergic neuritis 77

Role of NO in sciatica 77

Role of NO in the pathogenesis of muscular dystrophy 77

Role of NO in psychiatric disorders 78

NO-dysregulation in schizophrenia 78

Role of NO in pathomechanism of cardiovascular disorders 79

Oxidative stress as a cause of cardiovascular disease 79

Role of NO in pathomechanism of cardiovascular diseases 79

Role of iNOS in cardiovascular disease 80

Role of eNOS in cardiovascular disease 80

Role nNOS in cardiac arrhythmia and sudden death 81

NO and atherosclerosis 81

Role of NO in cardiopulmonary disorders 82

Role of NO in disturbances of vasodilation 83

Caveolin-1 deficiency impairs NO synthesis and vasodilation 83

Role of NO in hypercholesterolemia 83

Pulmonary hypertension 84

NO and systemic hypertension. 85

Coronary artery disease 86

Role of NO in the pathophysiology of angina pectoris 86

Congestive heart failure 87

Calcium overload as a cause of heart failure 87

NO/redox disequilibrium in the failing heart 87

Myocardial ischemia/reperfusion injury 87

NO pathway in cardiac hypertrophy 89

Role of NO in sickle cell disease 90

Role of NO in respiratory disorders 90

Role of NO in the pathophysiology of asthma 90

iNOS gene polymorphisms in asthma 91

Role of S-nitrosoglutathione in bronchodilation in asthma 92

Monitoring of exhaled NO 92

Nasal NO as a biomarker of response to rhinosinusitis therapy 93

Elevated urinary NO as a biomarker of improved survival in ARDS 93

Role of NO in renal disorders 94

Role of NOS in diabetic nephropathy 94

Role of NO in cancer 94

Inflammation, NO and colon cancer 95

Tumor hypoxia and NO 96

NO and p53 mutations 96

NO and matrix metalloproteinase 97

Role of NO in angiogenesis in cancer 97

Role of NO in diseases of the eye 98

Glaucoma 98

Role of NO in metabolic disorders 99

Metabolic syndrome 99

Obesity 99

Diabetes mellitus 99

Role of NO in gastrointestinal disorders 100

Role of L-arginine in intestinal adaptation 100

Role of NO in irritable bowel syndrome 100

Role of NO in inflammatory bowel diseases 100

Role of NO in celiac disease 101

Role of NO in diabetic gastroparesis 101

NO and diseases of the liver 101

Cirrhosis of liver 101

Hepatic encephalopathy 102

Role of NO in skin disorders 102

Role of NO and oxidative stress in the aging skin 102

Role of NO in wound healing 103

Role of NO in pain 103

NO and pain of spinal cord origin 103

NO interaction with other receptors in pain 104

nNOS and pain 104

Role of NO in various types of pain 104

Neuropathic pain 104

Role of NO in diabetic neuropathy 104

NO in oral and facial pain 105

Role of NO in migraine 105

Role of NO in osteoarthritis 106

NO and Fibromyalgia syndrome 106

Role of spinal NO in analgesic action 107

Role of NO in nicotine addiction 107

Role of NO in carbon monoxide poisoning 108

Role of NO in chemically-induced toxicity 108

Peroxynitrite and drug-dependent toxicity. 108

Paraquat neurotoxicity 108

Role of NO in radiation damage 109

5. Pharmacology of Nitric Oxide 111

Introduction 111

Cytoxic vs cytoprotective role of NO 111

Antioxidants 111

Ebselen 112

Nicaraven 112

Nitroxides 113

Antioxidants in relation to NO 113

Nitric oxide as an antioxidant 114

NO-related drugs 114

Drugs that activate eNOS production 116

Aspirin 116

Dehydroepiandrosterone 116

Drugs that scavenge free radicals/NO 116

Peroxynitrite scavengers 116

Ruthenium (III) polyaminocarboxylates 117

Nitrones 117

Drugs that inhibit NO 117

Ginko biloba 117

Epigallocatechin 118

Delivery of nitric oxide 118

Targeted delivery of NO donors 119

Nitric oxide delivery by encapsulated cells 119

NO-lipid combination 119

NO-releasing coating to prevent infection of implanted devices 120

Nanoparticles for controlled/sustained release of NO 120

Hydrogel/glass nanoparticles 120

Delivery of nanoparticles to vascular endothelium for release of NO 120

Nitric oxide donors 121

Nitroglycerine/glycerine trinitrate 121

Isosorbide dinitrate 122

Sodium nitrite 122

Organic nitrites 122

NO-releasing NSAIDs 123

COX-inhibiting NO-donors 124

Grafting of NO-releasing structures on to existing drugs 126

Mesoionic Oxatriazoles 127

Adding NO-donating structures to extend life cycle of existing drugs 127

Cysteine-containing NO donors 127

Ferrous nitrosyl complexes 128

Syndnonimines 128

S-Nitrosothiols 128

Diazeniumdiolates 129

COX-2 inhibitors 130

NO hydrogels 130

Novel NO donors 130

NO mimetics 131

Comparison of classical nitrates, grafted NO donors, and NO mimetics 131

NO donors and soluble guanylate cyclase activation 132

NO donors for increasing the efficacy of chemotherapy 132

Factors that enhance availability of NO 132

Modulators of cyclic guanosine-3?,5?-monophosphate-dependent protein kinases 133

NOS-modulating drugs 134

Drugs that activate eNOS 134

Statins 134

Angiotensin converting enzyme inhibitors 135

17 Beta-estradiol 135

C-2431 135

NOS inhibitors 135

Rationale of NOS inhibitors 135

L-Arginine 137

Design of NOS inhibitors 137

Selective iNOS inhibitors 138

Non-amino acid-based inhibitors 139

Aminoguanidine 139

Heme ligands 140

Pterin antagonists 140

Fused-ring bio-isoteric models of arginine as NOS inhibitors 140

nNOS inhibitors 140

Lubeluzole 142

Neurotrophic factors 142

Therapies based on action of NOS as a paraquat diaphorase 142

Concluding remarks about NOS inhibiting drugs 143

NO and stem cell-based therapy 143

Nitric oxide and gene therapy 144

NOS gene transfer 144

Inhibition of NOS by antisense technology 145

Drugs that modulate NO action on platelets 146

Action of NO and NO donors on platelets 146

NOS inhibitors and NO scavengers 146

Phosphodiesterase inhibitors 146

Activators of soluble guanylate cyclase 147

YC-1 147

A-350619 147

Cinaciguat 147

Secondary role of NO in the action of drugs 147

Selective serotonin reuptake inhibitors 148

P2Y receptors and NO 148

Calcium channel blockers and NO 148

Nitric oxide-based transdermal drug delivery 148

Mechanism of resistance of NO-based drugs 149

NO and nutraceuticals 149

L-arginine as a nutraceutical 149

Oleuropein 150

Role of NO in beneficial effects of chocolate 150

6. Therapeutic Applications 151

Introduction 151

Role of NO in the management of pulmonary disorders 151

Manufacture of NO gas for inhalation 151

NO inhalation for acute respiratory distress syndrome 151

NO inhalation for premature children with pulmonary dysplasia 152

NO inhalation for premature children with respiratory failure 152

Pulmonary hypertension 153

NO-based treatment of pulmonary hypertension 153

Inhaled nebulized nitrite for neonatal pulmonary hypertension 154

Gene therapy for pulmonary hypertension 154

Asthma 155

iNOS inhibitors for asthma 155

NO for bronchodilation in asthma 155

Role of NO in acute lung injury after smoke inhalation 155

Cardiovascular disorders 156

Role of NO in cardioprotection 156

Role of NO in the management of angina pectoris 157

Role of NO in therapy of coronary heart disease 158

NO-releasing aspirin in patients undergoing CABG 158

Management of coronary restenosis 159

Modified NO donors 159

NO-generating stent for coronary restenosis 159

eNOS gene therapy for restenosis 160

NO-based management of cardiac hypertrophy 161

Congestive heart failure 161

Limitation of antioxidant therapy in congestive heart failure 161

NO-based therapies for congestive heart failure 162

eNOS gene therapy for congestive heart failure 162

Gene transfer of nNOS in congestive heart failure 162

NO-based therapy for management of cardiogenic shock 163

NO-based therapy for cardiac arrhythmias 163

Prophylaxis of cardiovascular disorders 163

Prevention of atherosclerosis with aging 164

Peripheral vascular disorders 164

Peripheral atherosclerotic arterial disease 164

Peripheral ischemic disease 164

An eNOS mutant as therapeutic for peripheral vascular ischemia 165

Sodium nitrite therapy for peripheral vascular ischemia 165

Raynaud's phenomenon 166

Neurological disorders 166

Cerebrovascular ischemic disorders 166

Attenuation of NO for neuroprotection in cerebral ischemia 167

Use of NO donors in cerebral ischemia 167

Use of NO donors in cerebral reperfusion injury 168

Cerebral vasospasm and NO 168

NOS gene therapy for cerebral vasospasm 169

Degenerative CNS disorders 169

Statins for Alzheimer's disease 170

NO mimetics for Alzheimer's disease 170

iNOS inhibitors for treatment of Alzheimer's disease 170

NO-NSAIDs for Alzheimer's disease 171

Ginko biloba for Alzheimer's disease 171

Personalization of NO-based therapy for Alzheimer's disease 171

Role of NO in the treatment of traumatic brain injury 171

Neuroinflammatory disorders 172

Muscular dystrophy 172

Vestibulotoxicity 173

NO for opening the blood-brain barrier 173

Cochlear disorders 173

Cochlear ischemia 173

Role of NO in sensoryneural hearing loss 174

Pain 174

NO-based therapies for pain 174

Treatment of diabetic neuropathy with isosorbide dinitrate spray 174

NO-based therapies for migraine 175

NO-based therapy for fibromyalgia syndrome 175

NO-based therapies for inflammatory disorders 175

NO-based therapies for gastrointestinal disorders 176

Protection of gastrointestinal injury from NSAIDs 176

Role of NO in the treatment of inflammatory bowel disease 176

Topical nitroglycerin for chronic anal fissure 176

Cancer 177

Mechanism of action of NO in cancer 177

Antineoplastic effect of iNOS-expressing cells 177

Role of NO in drug resistance of cancer 177

Role of NO in treatment of brain tumors 178

NO-induced apoptosis 178

Role of NO in antiangiogenesis therapies in cancer 179

NO donors for the treatment of cancer 179

NO-releasing NSAIDs and colon cancer chemoprevention 179

Rationale of combining NO aspirin with cancer vaccines 180

NO-based cancer gene therapy 180

Transdermal nitroglycerine for prostate cancer 181

NO-based therapies for skin disorders 181

NO-based therapies for skin infections 181

Role of NO in the treatment of psoriasis 182

NO-based therapy for sickle cell anemia 182

Inhaled NO for acute respiratory distress syndrome in sickle cell disease 183

NO inhalation for pulmonary hypertension in sickle cell anemia 183

Role of NO in disorders associated with pregnancy 183

Use of NO donors in management of labor 183

Eclampsia 184

Erectile dysfunction 184

Selective inhibitors of phosphodiesterase 5 184

Erectile dysfunction in diabetes 185

NO-donating substances for treatment of ED 186

NOS gene transfer for ED 186

Organ transplant rejection 186

Role of NO in the treatment of renal disorders 187

Role of NO in the treatment of hepatic disorders 188

Portal hypertension 188

NO inhalation for restoration of liver function following transplantation 188

Role of NO in blood transfusion 189

Role of NO in the treatment of osteoporosis 189

NO-based wound healing 189

7. Evaluation of NO-Based Drugs 191

Current status 191

Antioxidant vs. NO-based approaches 191

SWOT analysis of selected approaches for NO modulation 191

NO donors by grafting of NO-releasing structures 191

NOS modulation 192

Challenges of developing NO-based therapies 193

Concluding remarks and future prospects 193

8. Markets for NO-based Therapies 195

Introduction 195

Impact of NO-based therapies on international markets 195

Share of NO-based therapies in major therapeutic areas 195

Share of NO-based therapies in cardiovascular disorders 196

Hypercholesterolemia 196

Myocardial infarction 197

Angina pectoris 197

Heart failure 197

Coronary restenosis and stenting 197

Strategies for developing NO-based therapy markets 198

Addressing the unfulfilled needs 198

Multidisciplinary approaches 198

Collaboration between the academia and the industry 199

Education of the public 199

9. Companies 201

Introduction 201

Profiles of companies with focus on NO 203

Major pharmaceutical companies with involvement in NO 218

Smaller biotech and pharmaceutical companies involved in NO 224

Biopharmaceutical companies involved in antioxidant research 233

Companies supplying NO equipment for healthcare 237

Academic institutes with commercial collaboration in NO research 241

Companies supplying NO products for research 242

Collaborations 246

10. References 247

List of Tables

Table 1 1: Historical landmarks in the discovery and applications of nitric oxide 15Table 3 1: Important functions of NO in the human body 36Table 4 1: Diseases involving nitric oxide 57Table 4 2: Role of nitric oxide in pathogenesis of autoimmune disorders 59Table 4 3: Role of nitric oxide in infections 61Table 5 1: Neuroprotective antioxidants 111Table 5 2: NO-related drugs 114Table 5 3: Methods of delivery of nitric oxide 118Table 5 4: Comparison of classical nitrates, grafted NO donors, and NO mimetics 131Table 5 5: Classification of NOS inhibitors 136Table 5 6: Potential clinical applications of gene transfer for NOS overexpression 144Table 6 1: Cardiovascular disorders for which NO-based therapies are used 156Table 6 2: Selected neurological applications of NO-based therapies 166Table 6 3: NO-related therapies for pain 174Table 7 1: SWOT of technology ? NO donors by grafting of NO-releasing structures 192Table 7 2: SWOT of products ? NO donors by grafting of NO-releasing structures 192Table 7 3: SWOT of NOS gene manipulation 192Table 7 4: SWOT of analgesic development by NOS isoform targeting 193Table 8 1: Share of NO-based therapies in major therapeutic areas 2011-2021 196Table 8 2: Share of NO-based therapies in cardiovascular diseases 2011-2021 196Table 9 1: Classification of companies involved in NO and antioxidant therapies 202Table 9 2: NicOx products in development 207Table 9 3: Product pipeline of Nitrox LLC 212Table 9 4: NO-related products of Sigma Aldrich 244Table 9 5: Collaborations of companies relevant to nitric oxide 246

List of Figures

Figure 1 1: Nitrogen cycle in the human body 17

Figure 1 2: Biosynthesis of nitric oxide (NO) 18

Figure 1 3: NO synthase pathway 19

Figure 2 1: Reactivity of nitric oxide with heme proteins in oxygen or peroxide reaction cycles 25

Figure 2 2: NO-cGMP pathway leading to vasorelaxation 26

Figure 2 3: The biological pathways toward protein nitration 28

Figure 2 4: NF-?B activation and iNOS induction 29

Figure 2 5: Overview of mitochondrial NO-cytochrome c oxidase signaling pathway 31

Figure 3 1: Role of NO in adaptation to high altitude 35

Figure 3 2: NOS in the cardiac myocyte 41

Figure 3 3: Interactions of the Mb compounds with O2 and NO 45

Figure 4 1: Molecular mechanisms of peroxynitrite-mediated cell death 56

Figure 4 2: NO neurotoxicity and neuroprotection in relation to Alzheimer's disease 69

Figure 4 3: Some steps in the ischemic cascade and site of action of neuroprotectives 74

Figure 4 4: Dual role of nitric oxide (NO) in cerebral ischemia 75

Figure 4 5: Blood cell-endothelial cell interactions induced by hypercholesterolemia 84

Figure 4 6: Effects of NO on the pathophysiology of myocardial ischemia-reperfusion 89

Figure 4 7: Nitric oxide: tumor enhancement or inhibition 95

Figure 4 8: Role of nitric oxide in angiogenesis 98

Figure 5 1: Nitrogen oxide mimetics ? synergy by chemical modification 131

Figure 5 2: Factors that enhance availability of NO 133

Figure 5 3: Mechanism of resistance to NO-based therapeutics 149

Figure 6 1: Vicious circle of vascular occlusion following angioplasty and stenting 160

Figure 6 2: PDE5 inhibition and the response to sexual stimulation 185

Figure 8 1: Unfulfilled needs in NO therapeutics 198

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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

Personalized Medicine - Scientific & Commercial Aspects

Wed, 01 Feb 2012 10:55:30 +0000

Personalized Medicine - Scientific & Commercial Aspects

PR Newswire

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

Personalized Medicine - scientific & commercial aspects

http://www.reportlinker.com/p0203549/Personalized-Medicine---scientific--commercial-aspects.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Genomics

The aim of personalized medicine or individualized treatment is to match the right drug to the right patient and, in some cases, even to design the appropriate treatment for a patient according to his/her genotype. This report describes the latest concepts of development of personalized medicine based on pharmacogenomics, pharmacogenetics,pharmacoproteomics, and metabolomics. Basic technologies of molecular diagnostics play an important role, particularly those for single nucleotide polymorphism (SNP) genotyping. Diagnosis is integrated with therapy for selection of the treatment as well for monitoring the results. Biochip/microarray technologies are also important and finally bioinformatics is needed to analyze the immense amount of data generated by various technologies.

Pharmacogenetics, the study of influence of genetic factors on drug action and metabolism, is used for predicting adverse reactions of drugs. Several enzymes are involved in drug metabolism of which the most important ones are those belonging to the family of cytochrome P450. The knowledge of the effects of polymorphisms of genes for the enzymes is applied in drug discovery and development as well as in clinical use of drugs. Cost-effective methods for genotyping are being developed and it would be desirable to include this information in the patient's record for the guidance of the physician to individualize the treatment. Pharmacogenomics, a term that overlaps with pharmacogenetics but is distinct, deals with the application of genomics to drug discovery and development. It involves the mechanism of action of drugs on cells as revealed by gene expression patterns. Pharmacoproteomics is an important contribution to personalized medicine as it is a more functional representation of patient-to-patient variation than that provided by genotyping.A 'pharmacometabonomic' approach to personalizing drug treatment is also described.

Biological therapies such as those which use patient's own cells are considered to be personalized medicines. Vaccines are prepared from individual patient's tumor cells. Individualized therapeutic strategies using monoclonal bodies can be directed at specific genetic and immunologic targets. Ex vivo gene therapy involves the genetic modification of the patient's cells in vitro, prior to reimplantation of these cells in the patient's body.

Various technologies are integrated to develop personalized therapies for specific therapeutic areas described in the report. Examples of this are genotyping for drug resistance in HIV infection, personalized therapy of cancer, antipsychotics for schizophrenia, antidepressant therapy, antihypertensive therapy and personalized approach to neurological disorders. Although genotyping is not yet a part of clinically accepted routine, it is expected to have this status by the year 2016.

Several players are involved in the development of personalized therapy. Pharmaceutical and biotechnology companies have taken a leading role in this venture in keeping with their future role as healthcare enterprises rather than mere developers of technologies and manufacturers of medicines.

Ethical issues are involved in the development of personalized medicine mainly in the area of genetic testing. These along with social issues and consideration of race in the development of personalized medicine are discussed. Regulatory issues are discussed mainly with reference to the FDA guidelines on pharmacogenomics.

Increase in efficacy and safety of treatment by individualizing it has benefits in financial terms. Information is presented to show that personalized medicine will be cost-effective in healthcare systems. For the pharmaceutical companies, segmentation of the market may not leave room for conventional blockbusters but smaller and exclusive markets for personalized medicines would be profitable. Marketing opportunities for such a system are described with market estimates from 2010-2020.

Profiles of 247 companies involved in developing technologies for personalized medicines, along with 463 collaborations are included in the part II of the report. Finally the bibliography contains over 630 selected publications cited in the report.The report is supplemented by 64 tables and 18 figures.

TABLE OF CONTENTS

0. Executive Summary 19

1. Basic Aspects 21

Definition of personalized medicine 21

History of medical concepts relevant to personalized medicine 22

Molecular biological basis of personalized medicine 24

The human genome 24

Chromosomes 25

Genes 25

The genetic code 25

Gene expression 26

DNA sequences and structure 26

Genetic variations in the human genome 26

Single nucleotide polymorphisms 27

Copy number variations in the human genome 27

Insertions and deletions in the human genome 29

Large scale variation in human genome 30

Structural variations in the human genome 30

Mapping and sequencing of structural variation from human genomes 30

1000 Genomes Project 31

Role of DNA sequencing in the development of personalized medicine 33

Human Variome Project 33

Interconnected genetic and genomic patterns in human diseases 33

Basics technologies for developing personalized medicine 34

Definitions of technologies relevant to personalized medicine 34

Problems with the ICH definitions of pharmacogenomcis and pharmacogenetics 35

Relationship of various technologies to personalized medicine 35

Conventional medicine versus personalized medicine 36

Role of genetics in future approaches to healthcare 36

Genetic medicine 36

Human disease and genes 36

Genetic and environmental interactions in etiology of human diseases 37

Role of genetics in development of personalized medicines 37

Genetic databases 38

Genetic epidemiology 38

Limitations of medical genetics and future prospects 38

Genetics vs. epigenetics 39

Role of systems biology in personalized medicine 39

Systems pharmacology 40

Systems medicine 41

Synthetic biology and development of personalized medicines 42

A personalized approach to environmental factors in disease 42

Reclassification of diseases 43

2. Molecular Diagnostics in Personalized Medicine 45

Introduction 45

Molecular diagnostic technologies 45

PCR-based methods 46

DirectLinear™ Analysis 46

Denaturing high-performance liquid chromatography 47

Multiplex Allele-Specific Diagnostic Assay 47

Representational oligonucleotide microarray analysis 47

Restriction fragment length polymorphism (RFLP) 47

Real-time PCR for detection of CNVs 47

Non-PCR methods 48

Arrayed primer extension (APEX) 48

Enzymatic Mutation Detection (EMD) 48

DNA sequencing 48

Sanger-sequencing technology 49

ABI PRISM® 310 Genetic Analyzer 50

High-throughput paired end transcriptome sequencing 50

Emerging sequencing technologies 50

4300 DNA analyzer 51

Apollo 100 51

"Color blind" approach to DNA sequencing 52

Cyclic array sequencing 52

CEQ™ 8000 52

DeepCAGE sequencing 52

Electron microscope-based DNA sequencing 53

Genometrica? sequencer 53

GS-FLEX system (Roche/454) 54

IBS sequencing technology 55

Illumina Genome Analyzer System 55

MegaBACE 500 56

Microdroplet-based PCR for large-scale targeted sequencing. 56

Multiplex amplification of human DNA sequences 57

Nanoscale sequencing 57

Polonator sequencer 57

RainStorm™ microdroplet technology 58

Sequential DEXAS 58

SOLiD technology 59

Sequencing by hybridization 60

Whole genome sequencing 60

Bioinformatic tools for analysis of genomic sequencing data 60

Detection of single molecules in real time 61

Direct observation of nucleotide incorporation 61

Molecular Combing 61

Nanopore sequencing 61

DNA sequence by use of nanoparticles 62

Zero-mode waveguide nanostructure arrays 62

Future prospects of sequencing 62

Role of sequencing in development of personalized medicine 63

Biochips and microarrays 64

Application of biochip technology in developing personalized medicine 64

Standardizing the microarrays 65

Biochip technologies 65

GeneChip 66

AmpliChip CYP450 66

Microfluidics 67

Lab-on-a-chip 68

Micronics' microfluidic technology 68

LabCD 68

Microfluidic automated DNA analysis using PCR 69

Integrated microfluidic bioassay chip 69

Electronic detection of nucleic acids on microarrays 69

Strand displacement amplification on a biochip 70

Rolling circle amplification on DNA microarrays 70

Universal DNA microarray combining PCR and ligase detection reaction 70

Protein biochips 71

ProteinChip 71

LabChip for protein analysis 72

TRINECTIN proteome chip 72

Protein expression microarrays 73

Microfluidic devices for proteomics-based diagnostics 73

New developments in protein biochips/microarrays 73

Protein biochips/microarrays for personalized medicine 74

SNP genotyping 74

Genotyping and haplotyping 75

Haplotype Specific Extraction 76

Computation of haplotypes 76

HapMap project 77

Haplotyping for whole genome sequencing 78

Predictingdrug response with HapMap 78

Companies developing haplotyping technology 78

Technologies for SNP analysis 79

Biochip and microarray-based detection of SNPs 80

SNP genotyping by MassARRAY 80

Biochip combining BeadArray and ZipCode technologies 80

SNP-IT primer-extension technology 81

Affymetrix Variation Detection Arrays 81

Use of NanoChip for detection of SNPs 81

Electrochemical DNA probes 82

Single base extension-tag array 82

Laboratory Multiple Analyte Profile 82

PCR-CTPP (confronting two-pair primers) 83

SNP genotyping on a genome-wide amplified DOP-PCR template 83

TaqMan real-time PCR 83

Non-Enzymatic Amplification Technology 83

SNP genotyping with gold nanoparticle probes 84

Locked nucleic acid 84

Molecular inversion probe based assays 84

Pyrosequencing 85

Reversed enzyme activity DNA interrogation test 85

Smart amplification process version 2 86

Zinc finger proteins 86

UCAN method (Takara Biomedical) 86

Mitochondrial SNPs 87

Limitations of SNP in genetic testing 87

Concluding remarks on SNP genotyping 87

Companies involved in developing technologies/products for SNP analysis 88

Impact of SNPs on personalized medicine 89

Detection of copy number variations 90

Study of rare variants in pinpointing disease-causing genes 90

Optical Mapping 91

Role of nanobiotechnology in molecular diagnostics 91

Cantilevers for personalized medical diagnostics 92

Nanopore-based technology for single molecule identification 92

Role of biomarkers in personalized medicine 93

Biomarkers for diagnostics 93

Biomarkers for drug development 94

Application of proteomics in molecular diagnosis 94

Proteomic strategies for biomarker identification 94

Proteomic technologies for detection of biomarkers in body fluids 94

Protein patterns 95

Layered Gene Scanning 95

Comparison of proteomic and genomic approaches in personalized medicine 96

Gene expression profiling 96

DNA microarrays 97

Analysis of single-cell gene expression 97

Gene expression profiling based on alternative RNA splicing 98

Whole genome expression array 99

Tangerine™ expression profiling 99

Gene expression analysis on biopsy samples 100

Profiling gene expression patterns of white blood cells 100

Serial analysis of gene expression (SAGE) 101

Multiplexed Molecular Profiling 101

Gene expression analysis using competitive PCR and MALDI TOF MS 102

Monitoring in vivo gene expression by magnetic resonance imaging 102

Companies involved in gene expression analysis 102

Monitoring in vivo gene expression by molecular imaging 103

Molecular imaging and personalized medicine 104

Glycomics-based diagnostics 104

Combination of diagnostics and therapeutics 104

Use of molecular diagnostics for stratification in clinical trials 105

Companion diagnostics 105

Companies involved in companion diagnostics 105

Point-of-care diagnosis 107

Companies developing point-of-care diagnostic technologies 108

Point-of-care diagnosis of infections 110

Advantages versus disadvantages of point-of-care diagnosis 111

Future prospects of point-of-care diagnosis 111

Genetic testing for disease predisposition 112

Preventive genetics by early diagnosis of mitochondrial diseases 112

Direct-to-consumer genetic services 112

Role of diagnostics in integrated healthcare 114

Concept of integrated healthcare 114

Components of integrated healthcare 115

Screening 115

Disease prediction 115

Early diagnosis 115

Prevention 115

Therapy based on molecular diagnosis 115

Monitoring of therapy 115

Advantages and limitations of integrated healthcare 116

Commercially available systems for integrated healthcare 116

Future of molecular diagnostics in personalized medicine 117

3. Pharmacogenetics 119

Basics of pharmacogenetics 119

Role of molecular diagnostics in pharmacogenetics 120

Role of pharmacogenetics in pharmaceutical industry 121

Study of the drug metabolism and pharmacological effects 121

Causes of variations in drug metabolism 121

Enzymes relevant to drug metabolism 122

Pharmacogenetics of phase I metabolism 122

CYP450 122

P450 CYP 2D6 inhibition by selective serotonin reuptake inhibitors 124

Cytochrome P450 polymorphisms and response to clopidogrel 125

Lansoprazole and cytochrome P450 125

Glucose-6-phosphate dehydrogenase 125

Pharmacogenetics of phase II metabolism 126

N-Acetyltransferase 126

Uridine diphosphate-glucuronosyltransferase 127

Measurement of CYP isoforms 127

Polymorphism of drug transporters 128

Genetic variation in drug targets 128

Polymorphisms of kinase genes 129

Effect of genetic polymorphisms on disease response to drugs 129

Ethnic differences in drug metabolism 130

Gender differences in pharmacogenetics 130

Role of pharmacogenetics in drug safety 131

Adverse drug reactions 131

Adverse drug reactions in children 132

Adverse drug reactions related to toxicity of chemotherapy 132

Genetically determined adverse drug reactions 132

Malignant hyperthermia 134

Pharmacogenetics of clozapine-induced agranulocytosis 134

Role of pharmacogenetics in warfarin therapy 134

Role of pharmacogenetics in antiplatelet therapy 135

Role of pharmacogenetics in carbamazepine therapy 137

Role of pharmacogenetics in statin therapy 137

FDA consortium linking genetic biomarkers to serious adverse events 138

Therapeutic drug monitoring, phenotyping, and genotyping 138

Therapeutic drug monitoring 139

Phenotyping 139

Genotyping 140

Genotyping vs phenotyping 140

Phenomics 141

Limitations of genotype-phenotype association studies 142

Molecular toxicology in relation to personalized medicines 142

Toxicogenomics 142

Biomarkers of drug toxicity 142

Drug-induced mitochondrial toxicity 143

Companies involved in molecular toxicology 143

Gene expression studies 144

Pharmacogenetics in clinical trials 144

Postmarketing pharmacogenetics 145

Clinical implications of pharmacogenetics 145

Application of CYP450 genotyping in clinical practice 145

Pharmacogenomic biomarker information in drug labels 145

Genotype-based drug dose adjustment 146

Examples of use of pharmacogenetics in clinical pharmacology 146

Genotyping for identifying responders to sulfasalazine 146

HLA alleles associated with lumiracoxib-related liver injury 146

Pharmacogenetic basis of thiopurine toxicity 147

Tranilast-induced hyperbilirubinemia due to gene polymorphism 147

Linking pharmacogenetics with pharmacovigilance 147

Genetic susceptibility to ADRs 147

Linking genetic testing to postmarketing ADR surveillance 148

Recommendations for the clinical use of pharmacogenetics 148

Limitations of pharmacogenetics 149

Pharmacoepigenomics vs pharmacogenetics in drug safety 149

Future role of pharmacogenetics in personalized medicine 150

4. Pharmacogenomics 151

Introduction 151

Basics of pharmacogenomics 152

Pharmacogenomics and drug discovery 152

Preclinical prediction of drug efficacy 154

Pharmacogenomics and clinical trials 154

Impact of genetic profiling on clinical studies 155

Limitations of the pharmacogenomic-based clinical trials 156

Pharmacogenomic aspects of major therapeutic areas 157

Oncogenomics 157

Oncogenes 157

Tumor suppressor genes 158

Cardiogenomics 159

Neuropharmacogenomics 161

Pharmacogenomics of Alzheimer's disease 161

Pharmacogenomics of depression 162

Pharmacogenomics of schizophrenia 162

Companies involved in neurogenomics-based drug discovery 163

5. Role of Pharmacoproteomics 165

Basics of proteomics 165

Proteomic approaches to the study of pathophysiology of diseases 165

Single cell proteomics for personalized medicine 166

Diseases due to misfolding of proteins 166

Therapies for protein misfolding 167

Significance of mitochondrial proteome in human disease 168

Proteomic technologies for drug discovery and development 168

Role of reverse-phase protein microarray in drug discovery 168

Role of proteomics in clinical drug safety 168

Toxicoproteomics 169

Application of pharmacoproteomics in personalized medicine 170

6. Role of Metabolomics in Personalized Medicine 171

Metabolomics and metabonomics 171

Metabolomics bridges the gap between genotype and phenotype 171

Metabolomics, biomarkers and personalized medicine 172

Metabolomic technologies 172

Urinary profiling by capillary electrophoresis 173

Lipid profiling 173

Role of metabolomics in biomarker identification and pattern recognition 174

Validation of biomarkers in large-scale human metabolomics studies 174

Pharmacometabonomics 174

Metabonomic technologies for toxicology studies 175

Metabonomics/metabolomics and personalized nutrition 175

7. Personalized Biological Therapies 177

Introduction 177

Recombinant human proteins 177

Therapeutic monoclonal antibodies 177

Cell therapy 178

Autologous tissue and cell transplants 178

Stem cells 178

Role of stem cells derived from unfertilized embryos 178

Cloning and personalized cell therapy 179

Use of stem cells for drug testing 179

Gene therapy 179

Personalized vaccines 180

Personalized vaccines for viral diseases 180

Personalized cancer vaccines 180

Antisense therapy 180

RNA interference 181

MicroRNAs 182

8. Personalized Medicine in Major Therapeutic Areas 183

Introduction 183

Management of infections 184

Management of HIV 184

CD4 counts as a guide to drug therapy for AIDS 184

Drug-resistance in HIV 184

Genetics of human susceptibility to HIV infection 185

Measurement of Replication Capacity 186

Personalized vaccine for HIV 186

Prevention of adverse reactions to antiviral drugs 186

Pharmacogenetics and HIV drug safety 187

Pharmacogenomics of antiretroviral agents 187

Role of diagnostic testing in HIV 188

Role of genetic variations in susceptibility to HIV-1 188

Personalized treatment of hepatitis B 188

Personalized treatment of hepatitis C 189

Responders vs non-responders to treatment for hepatitis C 189

Drug resistance in hepatitis C 190

Personalized management of tuberculosis 190

Psychiatric disorders 191

Psychopharmacogenetics 191

COMT genotype and response to amphetamine 192

Genotype and response to methylphenidate in children with ADHD 192

Personalized antipsychotic therapy 192

Personalized antidepressant therapy 195

EEG to predict adverse effects and evaluate antidepressant efficacy 195

Individualization of SSRI treatment 196

Vilazodone with a test for personalized treatment of depression 197

Neurological disorders 197

Personalized management of Alzheimer's disease 197

Personalized management of Parkinson's disease 199

Discovery of subgroup-selective drug targets in PD 199

Personalized management of Epilepsy 200

Choice of the right AED 200

Pharmacogenetics of epilepsy 200

Pharmacogenomics of epilepsy 201

Drug resistance in epilepsy 201

Future prospects for management of epilepsy 203

Personalized management of migraine 203

Individualization of use of triptans for migraine 204

Personalized management of stroke 204

Brain imaging in trials of restorative therapies for stroke 205

Decisions for evacuation of intracerebral hemorrhage 205

Revascularization procedures in chronic post-stroke stage 205

Personalized treatment of multiple sclerosis 206

Immunopathological patterns of demyelination for assessing therapy 206

Personalizing mitoxantrone therapy of multiple sclerosis 207

Fusokine method of personalized cell therapy of multiple sclerosis 207

MBP8298 208

Pharmacogenomics of IFN-? therapy in multiple sclerosis 208

T cell-based personalized vaccine for MS 209

Cardiovascular disorders 209

Role of diagnostics in personalized management of cardiovascular disease 210

Testing in coronary heart disease 210

SNP genotyping in cardiovascular disorders 210

Cardiovascular disorders with a genetic component 211

Gene variant as a risk factor for sudden cardiac death 212

KIF6 gene test as a guide to management of heart disease 213

SNP Chip for study of cardiovascular diseases 213

Pharmacogenomics of cardiovascular disorders 214

Modifying the genetic risk for myocardial infarction 214

Management of heart failure 214

?-blockers 214

Bucindolol 215

BiDil 215

Management of hypertension 216

Pharmacogenomics of diuretic drugs 216

Pharmacogenomics of ACE inhibitors 217

Management of hypertension by personalized approach 217

Prediction of antihypertensive activity of rostafuroxin 218

Pharmacogenetics of lipid-lowering therapies 218

Polymorphisms in genes involved in cholesterol metabolism 219

Role of eNOS gene polymorphisms 219

The STRENGTH study 220

Personalized management of women with hyperlipidemia 221

Thrombotic disorders 221

Factor V Leiden mutation 221

Anticoagulant therapy 222

Antiplatelet therapy 222

Nanotechnology-based personalized therapy of cardiovascular diseases 223

Project euHeart for personalized management of heart disease 223

Concluding remarks 224

Personalized management of pulmonary disorders 224

Role of genetic ancestory in lung function 224

Personalized therapy of asthma 224

Biomarkers for predicting response to corticosteroid therapy 225

Genetic polymorphism and response to ?2-adrenergic agonists 225

Genotyping in asthma 225

IgE as guide to dosing of omalizumab for asthma 226

Lebrikizumab for personalised treatment of asthma 227

Personalized management of chronic obstructive pulmonary disease 227

Personalized management of skin disorders 228

Genetic testing for personalized skin care 228

Management of hair loss based on genetic testing 228

Personalized therapy of rheumatoid arthritis 229

DIATSTAT™ anti-cyclic citrullinated peptides in rheumatoid arthritis 229

Personalization of COX-2 inhibitor therapy 230

Personalization of infliximab therapy 230

Personalized approaches in immunology 230

Role of Mannose-binding lectin in personalized medicine 231

Pharmacogenetics and pharmacogenomics of immunosuppressive agents 231

Personalized management of patients with lupus erythematosus 232

Personalized management of pain 232

Pharmacogenetics/pharmacogenomics of pain 233

Mechanism-specific management of pain 234

Preoperative testing to tailor postoperative analgesic requirements 234

Personalized analgesics 235

Management of genetic disorders 235

Personalized treatment of cystic fibrosis 235

Personalized management of gastrointestinal disorders 236

Personalized therapy of inflammatory bowel disease 236

Personalized management of lactose intolerance 236

Personalized approaches to improve organ transplantation 237

Personalization of kidney transplantation 237

Personalization of cardiac transplantation 237

Prediction of rejection to tailor anti-rejection medications 238

Personalized immunosuppressant therapy in organ transplants 238

Role of immunological biomarkers in monitoring grafted patients 239

Improved matching of blood transfusion 240

Personalized approach to addiction 240

Pharmacogenetics of drug addiction 240

Genetic polymorphism and management of alcoholism 240

Personalized therapy for smoking cessation 241

Antidepressant therapy for smoking cessation 241

Effectiveness of nicotine patches in relation to genotype 242

Personalized approaches to miscellaneous problems 242

Hormone replacement therapy in women 242

Personalized treatment of malaria 242

Personalized management of renal disease 243

Gene associated with end-stage renal disease 243

Personalized care of trauma patients 244

Personalized anticoagulation 244

Personalized Hyperbaric oxygen therapy 245

Personalized preventive medicine 245

Personalized nutrition 246

Nutrigenomics 246

Genomics of vitamin D and calcium supplementation 247

Nutrigenomics and functional foods 247

Nutrigenetics and personalized medicine 248

Nutrigenomics and personalized medicine 248

Nutrition and proteomics 249

Personalized diet prescription 249

9. Personalized Therapy of Cancer 251

Introduction 251

Challenges of cancer classification 251

Relationships of technologies for personalized management of cancer 251

Impact of molecular diagnostics on the management of cancer 252

AmpliChip P53 as companion diagnostic for cancer 253

Analysis of RNA splicing events in cancer 253

Analysis of chromosomal alterations in cancer cells 253

Cancer classification using microarrays 254

Detection of loss of heterozygosity 255

Diagnosis of cancer of an unknown primary 255

Diagnostics for detection of minimal residual disease 255

DNA repair biomarkers 256

Fluorescent in situ hybridization 256

Gene expression profiling 256

Gene expression profiles predict chromosomal instability in tumors 258

Isolation and characterization of circulating tumor cells 258

Modulation of CYP450 activity for cancer therapy 259

Personalized therapies based on oncogenic pathways signatures 259

Quantum dot-based test for DNA methylation 260

Role of molecular imaging in personalized therapy of cancer 260

Functional diffusion MRI 260

FDG-PET/CT for personalizing cancer treatment 261

Image-guided personalized drug delivery in cancer 261

Tumor imaging and elimination by targeted gallium corrole 261

Future prospects of molecular imaging in management of cancer 262

Unraveling the genetic code of cancer 262

Cancer prognosis 262

Detection of mutations for risk assessment and prevention 263

Impact of biomarkers on management of cancer 264

HER-2/neu oncogene as a biomarker for cancer 264

L-asparaginase treatment of cancer guided by a biomarker 264

Oncogene GOLPH3 as a cancer biomarker 264

Predictive biomarkers for cancer 265

Sequencing to discover biomarkers to personalize cancer treatment 265

Systems biology approach to discovery of radiation sensitivity biomarkers 266

VeraTag™ assay system for cancer biomarkers 266

Determination of response to therapy 267

ChemoFx cell culture assay for predicting anticancer drug response 267

Ex vivo testing of tumor biopsy for chemotherapy sensitivity 267

Genomic approaches to predict response to anticancer agents 268

Gene expression patterns to predict response of cancer to therapy 268

Genomic analysis of tumor biopsies 268

Genotype-dependent efficacy of pathway inhibition in cancer 268

Mutation detection at molecular level 269

Role of genetic variations in susceptibility to anticancer drugs 269

Non-genetic factors for variations in response of cancer cells to drugs 269

Proteomic analysis of tumor biopsies to predict response to treatment 270

Real-time apoptosis monitoring 270

Serum nucleosomes as indicators of sensitivity to chemotherapy 270

Targeted microbubbles to tumors for monitoring anticancer therapy 271

PET imaging for determining response to chemotherapy 272

Tissue systems biology approach to personalized management of cancer 272

Targeted cancer therapies 272

Targeting glycoproteins on cell surface 272

Targeting pathways in cancer 273

Functional antibody-based therapies 273

Personalized cancer vaccines 274

Antigen-specific vaccines 274

Active immunotherapy based on antigen specific to the tumor 274

Tumor-derived vaccines 275

MyVax 276

OncoVAX 276

Tumor cells treated with dinitrophenyl 276

Prophage 276

Melacine 277

Patient-specific cell-based vaccines 277

Dendritic cell-based vaccines 277

Adoptive cell therapy 279

Combination of antiangiogenic agents with ACT 280

Genetically targeted T cells for treating B cell malignancies 280

Genetic engineering of tumor cells 281

Hybrid cell vaccination 281

Personalized peptide cancer vaccines 282

Current status and future prospects of personalized cancer vaccines 282

Personalized radiation therapy 283

Molecular diagnostics combined with cancer therapeutics 284

Aptamers for combined diagnosis and therapeutics of cancer 285

Role of nanobiotechnology in personalized management of cancer 285

Design of future cancer therapies 286

Screening for personalized anticancer drugs 287

Role of epigenetics in development of personalized cancer therapies 287

Personalized therapy of cancer based on cancer stem cells 287

Role of oncoproteomics in personalized therapy of cancer 287

Cancer tissue proteomics 288

Role of sequencing in personalized therapy of cancer 288

Pharmacogenomic-based chemotherapy 289

Whole genome technology to predict drug resistance 289

Anticancer drug selection based on molecular characteristics of tumor 289

Testing microsatellite-instability for response to chemotherapy 289

Pharmacogenetics of cancer chemotherapy 290

CYP 1A2 290

Thiopurine methyltransferase 291

Dihydropyrimidine dehydrogenase 291

UGT1A1 test as guide to irinotecan therapy 292

Role of computational models in personalized anticancer therapy 292

A computational model of kinetically tailored treatment 292

Mathematical modeling of tumor mivroenvironments 293

Molecular profiling of cancer 293

Drug resistance in cancer 294

Detection of drug resistance in cancer by metabolic profiling 294

Determination of chemotherapy response by topoisomerase levels 295

Anaplastic lymphoma kinase 295

Management of drug resistance in leukemia 295

Overexpression of multidrug resistance gene 296

P53 mutations 296

A chemogenomic approach to drug resistance 296

Systems biology approach to personalizing therapy for drug-resistant cancer 297

Examples of personalized management of cancer 297

Personalized management of brain cancer 297

Biosimulation approach to personalizing treatment of brain cancer 297

Genetics and genomics of brain cancer 298

Prognosis of glioblastoma multiforme based on its genetic landscape 299

Molecular diagnostics for personalized management of brain cancer 300

Personalized chemotherapy of brain tumors 301

Personalized therapy of oligodendroglial tumors (OTs) 302

Personalized therapy of neuroblastomas 303

Personalized therapy of medulloblastomas 304

Personalized management of germ cell brain tumors 304

Personalized management of breast cancer 305

Developing personalized drugs for breast cancer 305

Gene expression plus conventional predictors of breast cancer 306

Her2 testing in breast cancer as a guide to treatment 307

HER2/neu-derived peptide vaccine for breast cancer 308

Molecular diagnostics in breast cancer 309

Pharmacogenetics of breast cancer 310

Proteomics-based personalized management of breast cancer 310

Predicting response to chemotherapy in breast cancer 311

Prediction of resistance to chemotherapy in breast cancer 314

Prediction of adverse reaction to radiotherapy in breast cancer 314

Prediction of recurrence in breast cancer for personalizing therapy 315

Prognosistic tests for breast cancer 316

Racial factors in the management of breast cancer 318

RATHER consortium to study personalized approach to breast cancer 318

TAILORx (Trial Assigning Individualized Options for Treatment) 319

Trends and future prospects of breast cancer research 319

Understanding tumor diversity in mouse mammary cancer model 320

Personalized management of ovarian cancer 320

Early diagnosis of ovarian cancer 320

Determining response to chemotherapy in ovarian cancer 320

Recurrent and drug-resistant ovarian cancer 321

Pathway targeted therapies for ovarian cancer 321

Personalized management of hematological malignancies 323

Personalized management of acute lymphoblastic leukemia 323

Personalized management of acute myeloid leukemia 324

Personalized management of chronic lymphocytic leukemia 324

Personalized management of multiple myeloma 325

Personalized management B cell lymphomas 326

Personalized vaccine for follicular lymphoma 327

Personalized management of myelodysplastic syndrome 327

Personalized management of hepatocellular carcinoma 328

Personalized management of gastrointestinal cancer 328

Personalized management of esophageal cancer 328

Personalized management of gastric cancer 329

Personalized management of colorectal cancer 329

A systems biology approach to drug

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Nicolas Bombourg
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SOURCE Reportlinker

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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Email: nbo@reportlinker.com
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