Specific Genetic Disorders - National Human Genome Research Institute (NHGRI)

Specific Genetic Disorders - National Human Genome Research Institute (NHGRI)

Specific Genetic Disorders

Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI).

Below is a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. If the condition you are looking for is not listed below, other resources are available at: The Office of Rare Diseases Research (ORDR)

Clinical research studies initiated and pursued by NHGRI researchers and scientists can be found at: Current NHGRI Clinical Studies

Clinical research studies initiated and pursued by National Instutes of Health (NIH) researchers and scientists can be found at: ClinicalTrials.gov

Undiagnosed Diseases

Sometimes, physicians are unable to put a name to a genetic condition. When this happens, physicians will say that a child or an adult has an undiagnosed rare or genetic condition. To learn more about how to deal with genetic or rare conditions that have no diagnosis, see:

• Learning About an Undiagnosed Condition in a Child
• Learning About an Undiagnosed Condition in an Adult
• The Undiagnosed Diseases Program

Genetic Disorders

• Achondroplasia
• Alpha-1 Antitrypsin Deficiency
• Antiphospholipid Syndrome
• Autism
• Autosomal Dominant Polycystic Kidney Disease
• Breast cancer
• Charcot-Marie-Tooth
• Colon cancer
• Cri du chat
• Crohn's Disease
• Cystic fibrosis
• Dercum Disease
• Down Syndrome
• Duane Syndrome
• Duchenne Muscular Dystrophy
• Factor V Leiden Thrombophilia
• Familial Hypercholesterolemia
• Familial Mediterranean Fever
• Fragile X Syndrome
• Gaucher Disease
• Hemochromatosis
• Hemophilia
• Holoprosencephaly
• Huntington's disease
• Klinefelter syndrome
• Marfan syndrome
• Myotonic Dystrophy
• Neurofibromatosis
• Noonan Syndrome
• Osteogenesis Imperfecta
• Parkinson's disease
• Phenylketonuria
• Poland Anomaly
• Porphyria
• Progeria
• Prostate Cancer
• Retinitis Pigmentosa
• Severe Combined Immunodeficiency (SCID)
• Sickle cell disease
• Skin Cancer
• Spinal Muscular Atrophy
• Tay-Sachs
• Thalassemia
• Trimethylaminuria
• Turner Syndrome
• Velocardiofacial Syndrome
• WAGR Syndrome
• Wilson Disease

If a condition is not listed above, other resources of information can be found at: Online Health Resources.

Last  Reviewed: January 18, 2017