xanthinuria type II
Findings
No curated finding names xanthinuria type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
Definition from the Mondo Disease Ontology (MONDO:0011346), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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
- 5 of 5 reported patients
- HypouricemiaHPOHP:0003537
- 2 of 2 reported patients
- Increased urinary hypoxanthine levelHPOHP:0011814
- 3 of 3 reported patients
- XanthinuriaHPOHP:0010934
- 3 of 3 reported patients
- MyalgiaHPOHP:0003326
- 2 of 5 reported patients
- Kidney stoneHPOHP:0000787
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.
- MOCOSHGNC:18234
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: xanthinuria type II
- Also called
- XAN2xanthine dehydrogenase and aldehyde oxidase, combined deficiency ofxanthine dehydrogenase and xanthine aldehyde oxidase dual deficiencyXDH and AOX dual deficiency