{"orpha":2169,"name":"Methylcobalamin deficiency type cblE","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Functional methionine synthase deficiency type cblE"],"definition":null,"note":"This disease is described under Homocystinuria without methylmalonic aciduria","url":"https://raremap.alftech.space/d/ORPHA-2169/","orphanet_url":"https://www.orpha.net/en/disease/detail/2169","names":{"fr":{"name":"Déficit en méthylcobalamine type cblE","synonyms":["Déficit fonctionnel en méthionine synthase type cblE"]},"de":{"name":"Methylcobalamin-Mangel Typ cbl E","synonyms":["Methionin-Synthase-Mangel Typ cblE, funktionaler"]},"es":{"name":"Deficiencia de metilcobalamina tipo cbl E","synonyms":["Deficiencia funcional de metionina sintasa tipo cblE"]},"it":{"name":"Deficit di metilcobalamina, tipo cblE","synonyms":["Deficit funzionale di metionina sintasi, tipo cblE"]},"nl":{"name":"Methylcobalaminedeficiëntie type cblE","synonyms":["Functionele methioninesynthasedeficiëntie type cblE"]},"pt":{"name":"Deficiência de metilcobalamina tipo cblE","synonyms":["Homocistinúria por defeito na metilação tipo cblE"]},"pl":{"name":"Niedobór metylokobalaminy typu cblE","synonyms":["Funkcjonalny Niedobór syntazy metioniny typu cblE"]},"cs":{"name":"Deficit methylkobalaminu, typ cbIE","synonyms":["Deficit methioninsyntázy reduktázy, typ cblE"]},"uk":{"name":"Дефіцит метилкобаламіну, тип cblE","synonyms":["Функціональна недостатність метіонінсинтетази типу cblE"]},"zh":{"name":"甲基钴胺素缺陷，cblE型","synonyms":["功能性蛋氨酸合成酶缺乏cbIE型"]},"tr":{"name":"Metilkobalamin eksikliği, cblE tipi","synonyms":["Fonksiyonel metiyonin sentaz eksikliği tip cblE"]}},"xrefs":[{"source":"OMIM","code":"236270","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":"1615371226"},{"source":"MONDO","code":"0009354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856057","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MTRR","name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301503[PMID]","hgnc":"7473","ensembl":"ENSG00000124275","omim":"602568","loci":["5p15.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"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":{"validation_status":"y","online":"y","validation_date":"2020-01-30","source":"9427140[PMID]_20301503[PMID]_15714522[PMID]_25526710[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental 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(29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}