xanthinuria type I
Findings
No curated finding names xanthinuria type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
Definition from the Mondo Disease Ontology (MONDO:0010209), read 2026-09-29. CC BY 4.0.
Features
4 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.
- HyperxanthinemiaHPOHP:0010933
- 4 of 4 reported patients
- HypouricemiaHPOHP:0003537
- 4 of 4 reported patients
- Impaired renal uric acid clearanceHPOHP:0004732
- 3 of 3 reported patients
- Reduced circulating xanthine oxidase activityHPOHP:6000218
- 4 of 4 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.
- XDHHGNC:12805
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: xanthinuria type I
- Also called
- isolated xanthine oxidase deficiencyXAN1xanthinuria type 1xanthinuria, type 1xanthinuria, type I