familial juvenile hyperuricemic nephropathy type 2
Findings
No curated finding names familial juvenile hyperuricemic nephropathy type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
Definition from the Mondo Disease Ontology (MONDO:0013128), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 features
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.
- AnemiaHPOHP:0001903
- Childhood onset
- Chronic kidney diseaseHPOHP:0012622
- Focal segmental glomerulosclerosisHPOHP:0000097
- Juvenile onset
- HyperuricemiaHPOHP:0002149
- Childhood onset
- ProteinuriaHPOHP:0000093
- Renal hypoplasiaHPOHP:0000089
- Renal tubular atrophyHPOHP:0000092
- Juvenile onset
- Tubulointerstitial fibrosisHPO
Genes
1 gene
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.
- RENHGNC:9958
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: familial juvenile hyperuricemic nephropathy type 2
- Also called
- ADTKD-RENautosomal dominant tubulointerstitial kidney disease due to mutations in RENfamilial juvenile hyperuricemic nephropathy caused by mutation in RENFJHN type 2hyperuricemic nephropathy, familial juvenile, type 2REN familial juvenile hyperuricemic nephropathyREN-associated familial juvenile hyperuricemic nephropathyREN-associated FJHNREN-associated kidney diseasetubulointerstitial kidney disease, autosomal dominant, 4