Xanthinuria type II
Synonyms: XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xanthinuria type II | XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency |
| fr | Xanthinurie type II | Déficit combiné en XDH et AOX · Déficit combiné en xanthine déshydrogenase et xanthine aldéhyde oxydase |
| de | Xanthinurie Typ II | XDH- und AOX-Mangel, kombinierter · Xanthin-Dehydrogenase- und Aldehydoxydase-Mangel, kombinierter · Xanthin-Dehydrogenase- und Xanthinoxidase-Mangel |
| es | Xantinuria tipo II | Deficiencia dual de xantina deshidrogenasa y xantina aldehido oxidasa |
| it | Xantinuria, tipo II | Deficit doppio di xantina deidrogenasi e xantina aldeide ossidasi · Doppio deficit di XDH e AOX |
| nl | Xanthinurie type II | XDH en AOX dual-deficiëntie · Xanthinedehydrogenase en xanthine-aldehyde-oxidasedualdeficiëntie |
| pt | Xantinúria tipo II | |
| pl | Ksanturia typu II | Podwójny Niedobór dehydrogenazy ksantynowej i oksydazy aldehydowej ksantyny · Podwójny Niedobór XDH i AOX |
| cs | Xanthinurie, typ II | XDH a AOX duální deficit · Deficit xanthindehydrogenázy a xanthin-aldehydoxidázy |
| uk | Ксантинурія, тип II | Подвійний дефіцит ксантиндегідрогенази та ксантин альдегідоксидази · Подвійний дефіцит XDH та AOX |
| zh | 黄嘌呤尿症II型 | 黄嘌呤脱氢酶和黄嘌呤醛氧化酶双重缺乏症 |
| tr | Ksantinüri tip II | XDH ve AOX ikili eksikliği · Ksantin dehidrojenaz ve ksantin aldehit oksidaz ikili eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603592 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.00 | NTBT | index | validated |
| MONDO | 0011346 | E | validated | |
| MeSH | C566358 | E | validated | |
| UMLS | C1863688 | E | validated | |
| GARD | 5620 | 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 |
|---|---|---|---|---|---|---|---|---|
| MOCOS | Disease-causing germline mutation(s) in | Assessed | HGNC:18234 | ENSG00000075643 | 613274 | 18q12.2 | molybdenum cofactor sulfurase | 11302742[PMID]_17368066[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/93602
- This record as JSON: /data/d/93602.json