familial juvenile hyperuricemic nephropathy type 1

Findings

No curated finding names familial juvenile hyperuricemic nephropathy type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Late onset · Middle age onset · Juvenile onset · Progressive · Young adult onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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 medullary cystic kidney disease with or without hyperuricemia
• familial juvenile hyperuricemic nephropathy
• inborn disorder of purine metabolism

Resolves to: familial juvenile hyperuricemic nephropathy type 1

Also called

ADTKD-UMODautosomal dominant medullary cystic kidney disease type 2autosomal dominant medullary cystic kidney disease with hyperuricemiaAutosomal Dominant Tubulo-Interstitial Kidney Diseaseautosomal dominant tubulointerstitial kidney disease - UMODautosomal dominant tubulointerstitial kidney disease due to mutations in UMODfamilial juvenile hyperuricemic nephropathy caused by mutation in UMODFJHN type 1glomerulocystic kidney disease with hyperuricemia and isosthenuriaHNFJ1hyperuricemic nephropathy, familial juvenile, 1hyperuricemic nephropathy, familial juvenile, type 1medullary cystic kidney disease 2medullary cystic kidney disease type 2