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. The disease is nephronophthisis 1 (MONDO_0009728). Also known as: NPH1, NPHP1, NPHP1 nephronophthisis (disease), familial juvenile nephronophthisis, juvenile nephronophthisis, juvenile nephronophthisis 1, nephronophthisis (disease) caused by mutation in NPHP1, nephronophthisis 1, juvenile.