Nephronophthisis 1

MONDO:0009728

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.

Also known as: NPH1, NPHP1, NPHP1 nephronophthisis (disease), familial juvenile nephronophthisis, juvenile nephronophthisis, nephronophthisis (disease) caused by mutation in NPHP1, nephronophthisis 1, nephronophthisis 1, juvenile

15 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by