Genetic and Rare Diseases Information Center | GARD
Discover resources, disease experts, or clinical studies for a rare disease. Important: GARD provides information about rare diseases for your general knowledge and is not a substitute for the advice of a health care provider.
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Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.
About GARD - Genetic and Rare Diseases Information Center
At the Genetic and Rare Diseases (GARD) Information Center, our mission is to support people living with a rare disease and their families by providing free access to reliable, easy-to-understand information in English and Spanish.
Lissencephaly spectrum disorders | About the Disease | GARD
Lissencephaly spectrum disorders is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Alpha 1-antitrypsin deficiency | About the Disease | GARD
RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. GeneReviews provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
Estrogen resistance syndrome | About the Disease | GARD
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels.
About the Disease | GARD - Genetic and Rare Diseases …
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature.
Contact Us | GARD - Genetic and Rare Diseases Information Center
Use the phone number or other contact options to ask a rare disease information specialist a question or provide feedback to the Genetic and Rare Diseases Information Center.
Occult macular dystrophy | About the Disease | GARD - Genetic …
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
About the Disease | GARD - Genetic and Rare Diseases …
Mitochondrial depletion is also responsible for causing several rare genetic diseases, including fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
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