hyperuricemic nephropathy, familial juvenile type 4
Findings
No curated finding names hyperuricemic nephropathy, familial juvenile type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014891), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Infantile onset · Juvenile onset · Neonatal onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 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
- 5 of 5 reported patients · Congenital onset
- 1 of 1 reported patient
- Chronic kidney diseaseHPOHP:0012622
- 5 of 5 reported patients
- Decreased glomerular filtration rateHPOHP:0012213
- 2 of 2 reported patients
- Decreased urinary uromodulin levelHPOHP:0034886
- 2 of 2 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 6 of 6 reported patients
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 1 of 1 reported patient
Show the remaining 28
- Renal dysplasiaHPOHP:0000110
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 6 of 6 reported patients
- Thickening of the tubular basement membraneHPOHP:0020132
- 1 of 1 reported patient
- HyperuricemiaHPOHP:0002149
- 3 of 6 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 2 of 5 reported patients
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.
- SEC61A1HGNC:18276
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Limited · G2P · Autosomal dominant · 2016
Where it sits
Other names
8 names
Resolves to: hyperuricemic nephropathy, familial juvenile type 4
- Also called
- ADTKD-SEC61A1familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1HNFJ4hyperuricemic nephropathy, familial juvenile, 4hyperuricemic nephropathy, familial juvenile, type 4SEC61A1 familial juvenile hyperuricemic nephropathySEC61A1-related autosomal dominant tubulointerstitial kidney diseasetubulointerstitial kidney disease, autosomal dominant, 5