Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 > Alport syndrome
Alport syndrome
Alternative Names: Alport syndrome, X-linked; Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis
Disease Category: Nephrotic Syndrome
A group of rare, genetic kidney disorders characterized by progressive kidney disease, inner ear abnormalities, and eye abnormalities. Symptoms include hematuria (blood in urine), proteinuria (high levels of protein in urine), hearing loss, anterior lenticonus (misshapen eye lenses), abnormal coloration of the retina, and progressive loss of kidney function.