ORPHA:308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Synonyms: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- 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 type C | Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C |
| fr | Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type C | Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type C · MOCOD type C |
| de | Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ C | MOCOD Typ C · Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ C, kombinierter Mangel |
| es | Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo C | Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo C · MOCOD tipo C |
| it | Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo C | Deficit combinato di solfito ossidasi, xantina ossidasi e aldeide ossidasi, tipo C · MOCOD, tipo C |
| nl | Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type C | Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type C · MOCOD type C |
| pt | Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo C | |
| pl | Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu C | MOCOD typu C · Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu C |
| cs | Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ C | Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ C · MOCOD, typ C |
| uk | Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип С | Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу С · MOCOD тип C |
| zh | 钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症C型 | C型MOCOD |
| tr | Molibden kofaktör eksikliği tip C nedeniyle sülfit oksidaz eksikliği | Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip C'nin kombine eksikliği · MOCOD tİP C |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615501 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0014212 | E | validated | |
| MeSH | C565374 | E | validated | |
| UMLS | C1854990 | 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 (1):
- ORPHA:99732Sulfite oxidase deficiency due to molybdenum cofactor deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPHN | Disease-causing germline mutation(s) in | Assessed | HGNC:15465 | ENSG00000171723 | 603930 | 14q23.3 | gephyrin |
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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/308400
- This record as JSON: /data/d/308400.json