{"orpha":308380,"name":"Methylcobalamin deficiency type cblDv1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Functional methionine synthase deficiency type cblDv1"],"definition":null,"note":"This disease is described under Homocystinuria without methylmalonic aciduria","url":"https://raremap.alftech.space/d/ORPHA-308380/","orphanet_url":"https://www.orpha.net/en/disease/detail/308380","names":{"fr":{"name":"Déficit en méthylcobalamine type cblDv1","synonyms":["Déficit fonctionnel en méthionine synthase type cblDv1"]},"de":{"name":"Methylcobalamin-Mangel Typ cblDv1","synonyms":["Funktionaler Methionin-Synthase-Mangel Typ cblDv1"]},"es":{"name":"Deficiencia de metilcobalamina tipo cblDv1","synonyms":["Deficiencia funcional de metionina sintasa tipo cblDv1"]},"it":{"name":"Deficit di metilcobalamina, tipo cblDv1","synonyms":["Deficit funzionale di metionina sintasi, tipo cblDv1"]},"nl":{"name":"Methylcobalaminedeficiëntie type cblDv1","synonyms":["Functionele methioninesynthasedeficiëntie type cblDv1"]},"pt":{"name":"Défice de metilcobalamina tipo cblDv1"},"pl":{"name":"Niedobór metylokobalaminy typu cblDv1","synonyms":["Funkcjonalny Niedobór syntazy metioniny typu cblDv1"]},"cs":{"name":"Deficit methylkobalaminu, typ cblDv1","synonyms":["Deficit funkční methioninsyntázy, typ cblDv1"]},"uk":{"name":"Дефіцит метилкобаламіну, тип cblDv1","synonyms":["Функціональна недостатність метіонінсинтетази, тип cblDv1"]},"zh":{"name":"乙钴胺缺乏cblDv1型","synonyms":["功能性甲硫氨酸合酶缺乏cblDv1型"]},"tr":{"name":"Metilkobalamin eksikliği tipi cblDv1","synonyms":["Fonksiyonel metiyonin sentaz eksikliği tip cblDv1"]}},"xrefs":[{"source":"OMIM","code":"277410","qualifier":"NTBT","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":"1998727677"},{"source":"MONDO","code":"0017683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679956","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":622,"name":"Homocystinuria without methylmalonic aciduria","classifications":[150,156,181,194]}],"children":[],"genes":[{"symbol":"MMADHC","name":"metabolism of cobalamin associated D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18385497[PMID]","hgnc":"25221","ensembl":"ENSG00000168288","omim":"611935","loci":["2q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}