ORPHA:308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Synonyms: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Encephalopathy due to sulfite oxidase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B |
| fr | Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type B | Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type B · MOCOD type B |
| de | Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ B | MOCOD Typ B · Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ B, kombinierter Mangel |
| es | Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo B | Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo B · MOCOD tipo B |
| it | Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo B | Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo B · MOCOD, tipo B |
| nl | Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type B | Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type B · MOCOD type B |
| pt | Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo B | |
| pl | Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu B | MOCOD typu B · Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu B |
| cs | Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ B | Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ B · MOCOD, typ B |
| uk | Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип В | Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу В · MOCOD тип B |
| zh | 钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症B型 | B型MOCOD |
| tr | Molibden kofaktör eksikliği tip B'ye bağlı sülfit oksidaz eksikliği | Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip B'nin kombine eksikliği · MOCOD tİP B |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252160 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009644 | E | validated | |
| MeSH | C565373 | E | validated | |
| UMLS | C1854989 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MOCS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7193 | ENSG00000164172 | 603708 | 5q11.2 | molybdenum cofactor synthesis 2 |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308393
- This record as JSON: /data/d/308393.json