hypouricemia, renal 1
MONDO:0020728Mondo
Findings
No curated finding names hypouricemia, renal 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Intermediate young adult onset · Late young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Acute kidney injuryHPOHP:0001919
- 2 of 2 reported patients
- Elevated fractional excretion of urateHPOHP:6000746
- 3 of 3 reported patients
- HyperuricosuriaHPOHP:0003149
- 1 of 1 reported patient
- HypouricemiaHPOHP:0003537
- 3 of 3 reported patients
- Renal cortical hyperechogenicityHPOHP:0033132
- 2 of 2 reported patients
- Renal tubular epithelial necrosisHPOHP:0008682
- 2 of 2 reported patients
- Uric acid nephrolithiasisHPOHP:0000791
- 2 of 2 reported patients
- UrolithiasisHPOHP:0034368
- 2 of 2 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 2 reported patients
- OliguriaHPOHP:0100520
- 1 of 2 reported patients
- ProteinuriaHPOHP:0000093
- 1 of 2 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.
- SLC22A12HGNC:17989
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of