{"orpha":79310,"name":"Vitamin B12-responsive methylmalonic acidemia type cblA","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Vitamin B12-responsive methylmalonic aciduria type cblA"],"definition":null,"note":"This disease is described under Vitamin B12-responsive methylmalonic acidemia","url":"https://raremap.alftech.space/d/ORPHA-79310/","orphanet_url":"https://www.orpha.net/en/disease/detail/79310","names":{"fr":{"name":"Acidémie méthylmalonique sensible à la vitamine B12 type cblA","synonyms":["Acidurie méthylmalonique sensible à la vitamine B12 type cblA"]},"de":{"name":"Methylmalonazidämie, Vitamin B12-sensible, Typ cblA","synonyms":["Methylmalonazidurie, Vitamin B12-abhängige, Typ cblA"]},"es":{"name":"Acidemia metilmalónica sensible a la vitamina B12 tipo cblA","synonyms":["Aciduria metilmalónica sensible a la vitamina B12 tipo cblA"]},"it":{"name":"Acidemia metilmalonica sensibile alla vitamina B12, tipo cblA","synonyms":["Aciduria metilmalonica sensibile alla vitamina B12, tipo cblA"]},"nl":{"name":"Vitamine B12-responsieve methylmalonacidemie type cblA","synonyms":["Vitamine B12-responsieve methylmalonacidemie type cblA","Vitamine B12-responsieve methylmalonacidurie type cblA","Vitamine B12-responsieve methylmalonzuuracidemie type cblA","Vitamine B12-responsieve methylmalonzuuracidurie type cblA"]},"pt":{"name":"Acidemia metilmalónica sensível à vitamina B12 tipo cbl A"},"pl":{"name":"Kwasica metylomalonowa reagująca na witaminę B12 typu cblA","synonyms":["Acyduria metylomalonowa reagująca na witaminę B12 typu cblA"]},"cs":{"name":"Methylmalonová acidémie responsivní na vitamin B12, typ cbIA","synonyms":["Methylmalonová acidurie responsivní na vitamin B12, typ cbIA"]},"uk":{"name":"Метилмалонова ацидемія тип cblA, чутлива до вітаміну В12","synonyms":["Метилмалонова ацидурія, що реагує на вітамін В12, тип cblA"]},"zh":{"name":"维生素B12反应性甲基丙二酸血症cbIA型","synonyms":["维生素B12-反应性甲基丙二酸尿症，cbIA型"]},"tr":{"name":"B12 vitaminine duyarlı metilmalonik asidemi tip cblA","synonyms":["B12 vitaminine duyarlı metilmalonik asidüri tipi cblA"]}},"xrefs":[{"source":"OMIM","code":"251100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"512037803"},{"source":"MONDO","code":"0009613","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855109","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":28,"name":"Vitamin B12-responsive methylmalonic acidemia","classifications":[150,156,188,233]}],"children":[],"genes":[{"symbol":"MMAA","name":"metabolism of cobalamin associated A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"18871","ensembl":"ENSG00000151611","omim":"607481","loci":["4q31.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"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}