IEMbase 0364: XDH-related xanthinuria type I
Scope
| Field | Value |
|---|---|
| IEMbase ID | 364 |
| Nosology | 16.2.1.01 |
| Gene | XDH |
| External IDs | OMIM:278300; OMIM:607633; ORPHA:93601 |
| Generated mapping | UNMAPPED; low candidate Chronic_Granulomatous_Disease.yaml |
| Candidate DisMech targets | No exact local target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents XDH-related xanthine oxidase deficiency, also listed as xanthinuria type I, an autosomal recessive purine-metabolism disorder. Characteristic rows include plasma hypoxanthine, urine hypoxanthine, acute renal failure, plasma uric acid, urine uric acid, urolithiasis, xanthine stones, plasma xanthine, and urine xanthine.
Additional clinical rows include impaired allopurinol to oxipurinol conversion and myopathy. Biochemical rows include plasma and urine hypoxanthine, plasma and urine uric acid, and plasma and urine xanthine. No treatment rows are present.
DisMech phenotype coverage
The low chronic granulomatous disease candidate is a false neighbor and should be rejected. Chronic granulomatous disease is a phagocyte NADPH oxidase primary immunodeficiency, not an XDH xanthine oxidase/xanthinuria disorder.
No exact DisMech disease file for XDH-related xanthinuria type I was identified. The correct disease concept would need xanthine oxidase deficiency, reduced uric acid production, xanthine/hypoxanthine accumulation, and kidney-stone or renal failure consequences.
Concordance and completeness
Judgement: true local gap; reject the generated chronic granulomatous disease candidate.
IEMbase supplies a coherent xanthinuria profile: XDH identity, autosomal recessive inheritance, high xanthine/hypoxanthine, low uric acid, xanthine stones, urolithiasis, acute renal failure, impaired allopurinol-to-oxipurinol conversion, and possible myopathy.
Curation actions
- Do not map this record to
Chronic_Granulomatous_Disease.yaml. - Create or prioritize a future XDH/xanthinuria type I target if this disease enters active DisMech curation.
- Treat specimen-specific xanthine, hypoxanthine, and uric-acid rows as high-value biochemical prompts for future source-backed curation.