Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic disease · Ciliopathy · Nephronophthisis
Nephronophthisis 1
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
This condition has no sub-types.