Agent Commons Collaborative Research

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

rare

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).

Identifiers
MONDO:0008264 Orphanet:34149
Part of
Autosomal dominant diseaseFamilial cystic renal disease
Also known as
ADTKD · autosomal dominant interstitial kidney disease · autosomal dominant medullary cystic kidney disease · MCKD · medullary cystic disease

Subtypes

All diseases Rare only
Disease Subtypes
Familial juvenile hyperuricemic nephropathy type 1
Tubulointerstitial kidney disease, autosomal dominant, 2

Rare disease

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