hereditary xanthinuria
Findings
No curated finding names hereditary xanthinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Definition from the Mondo Disease Ontology (MONDO:0018106), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Decreased urinary urateHPOHP:0011935
- Very frequent (80% to 99% of cases)
- HypouricemiaHPOHP:0003537
- Very frequent (80% to 99% of cases)
- Aldehyde oxidase deficiencyHPOHP:0002932
- Frequent (30% to 79% of cases)
- CrystalluriaHPOHP:0020074
- Frequent (30% to 79% of cases)
- HyperxanthinemiaHPOHP:0010933
- Frequent (30% to 79% of cases)
- Increased urinary hypoxanthine levelHPOHP:0011814
- Frequent (30% to 79% of cases)
- Reduced xanthine dehydrogenase levelHPOHP:0003534
- Frequent (30% to 79% of cases)
- Sulfite oxidase deficiencyHPOHP:0003643
- Frequent (30% to 79% of cases)
- Uric acid nephrolithiasisHPOHP:0000791
- Frequent (30% to 79% of cases)
- Xanthine nephrolithiasisHPOHP:0000804
- Frequent (30% to 79% of cases)
- XanthinuriaHPOHP:0010934
- Frequent (30% to 79% of cases)
- Acute kidney injuryHPOHP:0001919
- Occasional (5% to 29% of cases)
Show the remaining 9
- ArthropathyHPOHP:0003040
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- Flank painHPOHP:0030157
- Occasional (5% to 29% of cases)
- HematuriaHPOHP:0000790
- Occasional (5% to 29% of cases)
- Muscle spasmHPOHP:0003394
- Occasional (5% to 29% of cases)
- MyalgiaHPOHP:0003326
- Occasional (5% to 29% of cases)
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: hereditary xanthinuria
- Also called
- classic xanthinuriaxanthic urolithiasisxanthine stone disease