{"orpha":369955,"name":"Methylmalonic acidemia with homocystinuria, type cblJ","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CblJ defects","Cobalamin J defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ","Methylmalonic aciduria with homocystinuria, type cblJ"],"definition":null,"note":"This disease is described under Methylmalonic acidemia with homocystinuria","url":"https://raremap.alftech.space/d/ORPHA-369955/","orphanet_url":"https://www.orpha.net/en/disease/detail/369955","names":{"fr":{"name":"Acidémie méthylmalonique avec homocystinurie type cblJ","synonyms":["Acidurie méthylmalonique avec homocystinurie type cblJ","Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblJ","Déficit en cblJ","Déficit en cobalamine J"]},"de":{"name":"Methylmalonazidämie mit Homocystinurie Typ cblJ","synonyms":["CblJ-Defekte","Cobalamin J-Defekt","Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblJ","Methylmalonazidurie mit Homocystinurie Typ cblJ"]},"es":{"name":"Acidemia metilmalónica con homocistinuria tipo cblJ","synonyms":["Aciduria metilmalónica con homocistinuria tipo cblJ","Defecto CblJ","Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblJ","Defecto de cobalamina J"]},"it":{"name":"Acidemia metilmalonica con omocistinuria, tipo cblJ","synonyms":["Aciduria metilmalonica con omocistinuria, tipo cblJ","Deficit di CblJ","Deficit di cobalamina J","Difetto combinato della sintesi dell'adenosilcobalamina e metilcobalamina, tipo cblJ"]},"nl":{"name":"Methylmalonacidurie met homocystinurie, type cblJ","synonyms":["CblJ-defecten","Cobalamine J-defect","Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese type cblJ","Methylmalonacidemie met homocystinurie type cblJ"]},"pt":{"name":"Acidemia metilmalónica com homocistinúria, tipo cbIJ"},"pl":{"name":"Kwasica metylomalonowa z homocystynurią, typu cblJ","synonyms":["Acyduria metylomalonowa z homocystynurią, typu cblJ","Defekt CblJ","Defekt kobalaminy J","Złożony defekt syntezy adenozylokobalaminy i metylokobalaminy, typu cblJ"]},"cs":{"name":"Methylmalonová acidemie s homocystinurií, typ cbIJ","synonyms":["Poruchy CblJ","Porucha kobalaminu J","Kombinovaná porucha syntézy adenosylkobalaminu a methylkobalaminu, typ cblJ","Methylmalonová acidurie s homocystinurií, typ cblJ"]},"uk":{"name":"Метилмалонова ацидемія з гомоцистинурією, тип cblJ","synonyms":["Дефекти CblJ","Дефект кобаламіну J","Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblJ","Метилмалонова ацидурія з гомоцистинурією, тип cblJ"]},"zh":{"name":"cbIJ型甲基丙二酸血症伴高胱氨酸尿症","synonyms":["腺苷钴胺素和甲基钴胺素合成结合缺陷cblJ型"]},"tr":{"name":"Homosistinüri ile seyreden metilmalonik asidemi, tip cblJ","synonyms":["CblJ defekti","Kobalamin J defekti","Homosistinüri ile seyreden metilmalonik asidüri, tip cblJ","Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblJ"]}},"xrefs":[{"source":"OMIM","code":"614857","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553915","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":26,"name":"Methylmalonic acidemia with homocystinuria","classifications":[150,156,181,194]}],"children":[],"genes":[{"symbol":"ABCD4","name":"ATP binding cassette subfamily D member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22922874[PMID]","hgnc":"68","ensembl":"ENSG00000119688","omim":"603214","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24011988[PMID]_22922874[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}