Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Fabry Disease
Fabry Disease
Alternative Names: Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; GLA Deficiency
Disease Category: Lysosomal Diseases
A rare, X-linked (found on the X chromosome), inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down globotriasylceramides (cell surface receptors containing fats with sugar molecules attached). Symptoms manifest in childhood, including acroparesthesias (numbness or sensory changes especially in the fingers and toes), hypohydrosis (decreased sweating capacity), gastrointestinal problems, tinnitus (ringing in the ears), hearing loss, corneal opacity or verticillata (scarring or a whorl-like, golden-brown or gray pattern on the clear surface of the eyes, respectively), and angiokeratomas (enlarged blood vessels causing dark, red skin spots). Severe symptoms include kidney disease, heart attack, and stroke.
Research groups studying this disease
Fabry Australia, Inc.
Unites and supports the Australian Fabry community.
Canadian Fabry Association
Encourages and supports research into the causes, treatment, and management of Fabry disease.
Fabry Support & Information Group
Supports the needs of the Fabry disease community by providing information, education, and advocacy.
National Fabry Disease Foundation
Assists with disease education, diagnosis, support, research, and advovcacy for the Fabry disease community.