Xanthinuria type I
Synonyms: XDH deficiency · XO deficiency · XOR deficiency · Xanthine dehydrogenase deficiency · Xanthine oxidase deficiency · Xanthine oxidoreductase deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Type I xanthinuria, a type of classical xanthinuria, is 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xanthinuria type I | XDH deficiency · XO deficiency · XOR deficiency · Xanthine dehydrogenase deficiency · Xanthine oxidase deficiency · Xanthine oxidoreductase deficiency |
| fr | Xanthinurie type I | Déficit en XDH · Déficit en XO · Déficit en XOR · Déficit en xanthine déshydrogénase · Déficit en xanthine oxydase · Déficit en xanthine oxydoréductase |
| de | Xanthinurie Typ I | Xanthin-Dehydrogenase (XDH)-Mangel · Xanthin-Oxidase (XO)-Mangel · Xanthin-Oxidoreduktase (XOR)-Mangel |
| es | Xantinuria tipo I | Deficiencia de XDH · Deficiencia de XO · Deficiencia de XOR · Deficiencia de xantina deshidrogenasa · Deficiencia de xantina oxidasa · Deficiencia de xantina oxidorreductasa |
| it | Xantinuria, tipo I | Deficit di XDH · Deficit di XO · Deficit di XOR · Deficit di xantina deidrogenasi · Deficit di xantina ossidasi · Deficit di xantina ossidoreduttasi |
| nl | Xanthinurie type I | XDH-deficiëntie · XO-deficiëntie · XOR-deficiëntie · Xanthine-oxidasedeficiëntie · Xanthine-oxidoreductasedeficiëntie · Xanthinedehydrogenasedeficiëntie |
| pt | Xantinúria tipo I | |
| pl | Ksanturia typu I | Niedobór dehydrogenazy ksantynowej · Niedobór oksydazy ksantynowej · Niedobór oksydoreduktazy ksantynowej · Niedobór XDH · Niedobór XO · Niedobór XOR |
| cs | Xanthinurie, typ I | Deficit XDH · Deficit XO · Deficit XOR · Deficit xanthin dehydrogenázy · Deficit xanthinoxidázy · Deficit xanthin oxidoreduktázy |
| uk | Ксантинурія, тип I | Дефіцит ксантиндегідрогенази · Дефіцит ксантиноксидази · Дефіцит ксантиноксидоредуктази · Дефіцит XDH · Відсутність XO · Дефіцит XOR |
| zh | 黄嘌呤尿症I型 | 黄嘌呤氧化还原酶缺乏症 |
| tr | Ksantinüri tip I | XO eksikliği · XDH eksikliği · XOR eksikliği · Ksantin oksidaz eksikliği · Ksantin dehidrojenaz eksikliği · Ksantin oksidoredüktaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278300 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.00 | NTBT | index | validated |
| MONDO | 0010209 | E | validated | |
| MeSH | C562584 | E | validated | |
| UMLS | C0268118 | E | validated | |
| GARD | 5621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:3467Hereditary xanthinuria
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| XDH | Disease-causing germline mutation(s) in | Assessed | HGNC:12805 | ENSG00000158125 | 607633 | 2p23.1 | xanthine dehydrogenase | 9153281[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93601
- This record as JSON: /data/d/93601.json