hereditary renal hypouricemia
Findings
No curated finding names hereditary renal hypouricemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).
Definition from the Mondo Disease Ontology (MONDO:0009071), read 2026-09-29. CC BY 4.0.
Features
16 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.
- HyperuricosuriaHPOHP:0003149
- Obligate (100% of cases)
- HypouricemiaHPOHP:0003537
- Obligate (100% of cases)
- Postexertional symptom exacerbationHPOHP:0030973
- Very frequent (80% to 99% of cases)
- Abnormal renal physiologyHPOHP:0012211
- Frequent (30% to 79% of cases)
- Abnormal renal tubule morphologyHPOHP:0000091
- Frequent (30% to 79% of cases)
- Acute kidney injuryHPOHP:0001919
- Frequent (30% to 79% of cases)
- Uric acid urolithiasis independent of goutHPOHP:0008651
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- Decreased glomerular filtration rateHPOHP:0012213
- Occasional (5% to 29% of cases)
- HematuriaHPOHP:0000790
- Occasional (5% to 29% of cases)
- HypercalciuriaHPOHP:0002150
- Occasional (5% to 29% of cases)
Show the remaining 4
- Increased blood urea nitrogenHPOHP:0003138
- Occasional (5% to 29% of cases)
- Mild proteinuriaHPOHP:0012595
- Occasional (5% to 29% of cases)
- NauseaHPOHP:0002018
- Occasional (5% to 29% of cases)
- VomitingHPOHP:0002013
- Occasional (5% to 29% of cases)
Genes
2 genes
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