{"orpha":308386,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MOCOD type A","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"],"definition":null,"note":"This disease is described under Encephalopathy due to sulfite oxidase deficiency","url":"https://raremap.alftech.space/d/ORPHA-308386/","orphanet_url":"https://www.orpha.net/en/disease/detail/308386","names":{"fr":{"name":"Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène type A","synonyms":["Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type A","MOCOD type A"]},"de":{"name":"Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ A","synonyms":["MOCOD Typ A","Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ A, kombinierter Mangel"]},"es":{"name":"Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo A","synonyms":["Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo A","MOCOD tipo A"]},"it":{"name":"Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo A","synonyms":["Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo A","MOCOD, tipo A"]},"nl":{"name":"Sulfietoxidasedeficiëntie door molybdeen-cofactordeficiëntie type A","synonyms":["Gecombineerde deficiëntie van sulfietoxidase, xanthinedehydrogenase en aldehydeoxidase type A","MOCOD type A"]},"pt":{"name":"Défice de sulfito-oxidade por défice do cofactor de molibdénio tipo A"},"pl":{"name":"Niedobór oksydazy siarczynowej z powodu deficytu kofaktora molibdenowego typu A","synonyms":["MOCOD typu A","Złożony Niedobór oksydazy siarczynowej, dehydrogenazy ksantynowej i oksydazy aldehydowej typu A"]},"cs":{"name":"Deficit sulfitoxidázy způsobený deficitem molybdenového kofaktoru, typ A","synonyms":["Kombinovaný deficit sulfitoxidázy, xantindehydrogenázy a aldehydoxidázy, typ A","MOCOD, typ A"]},"uk":{"name":"Дефіцит сульфітоксидази внаслідок дефіциту кофактора молібдену, тип А","synonyms":["Поєднаний дефіцит сульфітоксидази, ксантиндегідрогенази та альдегідоксидази типу А","MOCOD тип A"]},"zh":{"name":"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症A型","synonyms":["A型MOCOD"]},"tr":{"name":"Molibden kofaktör eksikliği tip A nedeniyle sülfit oksidaz eksikliği","synonyms":["Sülfit oksidaz, ksantin dehidrojenaz ve aldehit oksidaz tip A'nın kombine eksikliği","MOCOD tip A"]}},"xrefs":[{"source":"OMIM","code":"252150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"490508412"},{"source":"MONDO","code":"0009643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679957","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":99732,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency","classifications":[147,150,156,181,189]}],"children":[],"genes":[{"symbol":"MOCS1","name":"molybdenum cofactor synthesis 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"7190","ensembl":"ENSG00000124615","omim":"603707","loci":["6p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_European Medicines Agency 2010[OTHER]"}],"phenotypes":null}