Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased urinary urate
Very frequent (80-99%)HP:0011935
Low blood uric acid levels
Very frequent (80-99%)HP:0003537
Aldehyde oxidase deficiency
Frequent (30-79%)HP:0002932
Crystalluria
Frequent (30-79%)HP:0020074
Increased circulating xanthine concentration
Frequent (30-79%)HP:0010933
Increased urinary hypoxanthine level
Frequent (30-79%)HP:0011814
Reduced xanthine dehydrogenase level
Frequent (30-79%)HP:0003534
Sulfite oxidase deficiency
Frequent (30-79%)HP:0003643
Uric acid stones
Frequent (30-79%)HP:0000791
Urinary xanthine stones
Frequent (30-79%)HP:0000804
Xanthinuria
Frequent (30-79%)HP:0010934
Acute kidney injury
Occasional (5-29%)HP:0001919
Disease of the joints
Occasional (5-29%)HP:0003040
High urine occult blood
Occasional (5-29%)HP:0000790
Kidney pain
Occasional (5-29%)HP:0030157
Muscle pain
Occasional (5-29%)HP:0003326
Muscle spasm
Occasional (5-29%)HP:0003394
Myopathy
Occasional (5-29%)HP:0003198
Progressive renal failure
Occasional (5-29%)HP:0012622
Repeated bladder infections
Occasional (5-29%)HP:0000010
Gout
Very rare (1-4%)HP:0001997
Related Conditions
Quick Facts
- SNOMED CT
- 54627004
- UMLS CUI
- C5779508
- Fully Specified Name
- Hereditary xanthinuria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.