/autosomal dominant medullary cystic kidney disease with or without hyperuricemia

autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Rare Disease

MONDO:0008264

Also Known As

ADTKDautosomal dominant interstitial kidney diseaseautosomal dominant medullary cystic kidney diseaseautosomal dominant medullary cystic kidney disease with or without hyperuricemiaMCKDautosomal dominant tubulointerstitial kidney diseasemedullary cystic diseasemedullary cystic kidney diseasepolycystic kidneys, medullary type

Definition

A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).