{"orpha":2170,"name":"Methylcobalamin deficiency type cblG","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Functional methionine synthase deficiency type cblG"],"definition":null,"note":"This disease is described under Homocystinuria without methylmalonic aciduria","url":"https://raremap.alftech.space/d/ORPHA-2170/","orphanet_url":"https://www.orpha.net/en/disease/detail/2170","names":{"fr":{"name":"Déficit en méthylcobalamine type cblG","synonyms":["Déficit fonctionnel en méthionine synthase type cblG"]},"de":{"name":"Methylcobalamin-Mangel Typ cbl G","synonyms":["Methionin-Synthase-Mangel, funktioneller, Typ cbl G"]},"es":{"name":"Deficiencia de metilcobalamina tipo cbl G","synonyms":["Deficiencia funcional de metionina sintasa tipo cblG"]},"it":{"name":"Deficit di metilcobalamina, tipo cblG","synonyms":["Deficit funzionale di metionina sintasi, tipo cblG"]},"nl":{"name":"Deficiëntie van methylcobalamine type cblG","synonyms":["Functionele deficiëntie van methioninesynthase type cblG"]},"pt":{"name":"Deficiência de metilcobalamina tipo cblG","synonyms":["Deficiência funcional de metionina sintetase tipo cblG"]},"pl":{"name":"Niedobór metylokobalaminy typu cblG","synonyms":["Funkcjonalny Niedobór syntazy metioniny typu cblG"]},"cs":{"name":"Deficit methylkobalaminu, typ cbIG","synonyms":["Funkční deficit methionin syntázy, typ cbIG"]},"uk":{"name":"Дефіцит метилкобаламіну типу cblG","synonyms":["Функціональна недостатність метіонінсинтетази типу cblG"]},"zh":{"name":"甲基钴胺素缺乏症cblG型","synonyms":["功能性甲基钴胺素缺乏症cblG型"]},"tr":{"name":"Metilkobalamin eksikliği tipi cblG","synonyms":["Fonksiyonel metiyonin sentaz eksikliği tipi cblG"]}},"xrefs":[{"source":"OMIM","code":"250940","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":"1948966238"},{"source":"MONDO","code":"0009609","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855128","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3577","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":"MTR","name":"5-methyltetrahydrofolate-homocysteine methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301503[PMID]","hgnc":"7468","ensembl":"ENSG00000116984","omim":"156570","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}