ORPHA:99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Synonyms: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
This disease is described under Encephalopathy due to sulfite oxidase deficiency
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sulfite oxidase deficiency due to molybdenum cofactor deficiency | Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD |
| fr | Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène | Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase · MOCOD |
| de | Sulfitoxidase-Mangel durch Molybdän-Cofaktor-Mangel | MOCOD |
| es | Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno | MOCOD |
| it | Deficit di solfito ossidasi da deficit del cofattore molibdeno | MOCOD |
| nl | Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie | Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase · MOCOD |
| pt | Deficiência de sulfito oxidase por deficiência do cofator de molibdénio | |
| pl | Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego | MOCOD · Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej |
| cs | Deficit sulfit oxidázy způsobený deficitem molybdenového kofaktoru | Kombinovaný deficit sulfitoxidázy, xantin dehydrogenázy a aldehydoxidázy · MOCOD |
| uk | Дефіцит сульфітоксидази через дефіцит молібденового кофактору | Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази · MOCOD |
| zh | 钼辅因子缺乏所致亚硫酸盐氧化酶缺乏 | 钼辅因子缺陷 |
| tr | Molibden kofaktör eksikliğine bağlı sülfit oksidaz eksikliği | Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidazın kombine eksikliği · MOCOD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252150 | BTNT | validated | |
| OMIM | 252160 | BTNT | validated | |
| OMIM | 615501 | BTNT | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0020480 | E | validated | |
| MeSH | C535811 | E | validated | |
| UMLS | C0268119 | E | validated | |
| GARD | 3705 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:833Encephalopathy due to sulfite oxidase deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99732
- This record as JSON: /data/d/99732.json