autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Findings

No curated finding names autosomal dominant medullary cystic kidney disease with or without hyperuricemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant disease
• familial cystic renal disease

Narrower terms (2)

• familial juvenile hyperuricemic nephropathy type 1
• tubulointerstitial kidney disease, autosomal dominant, 2

Resolves to: autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Also called

ADTKDautosomal dominant interstitial kidney diseaseautosomal dominant medullary cystic kidney disease