{"orpha":369962,"name":"Methylmalonic acidemia with homocystinuria, type cblX","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX","Methylmalonic aciduria with homocystinuria, type cblX"],"definition":null,"note":"This disease is described under Methylmalonic acidemia with homocystinuria","url":"https://raremap.alftech.space/d/ORPHA-369962/","orphanet_url":"https://www.orpha.net/en/disease/detail/369962","names":{"fr":{"name":"Acidémie méthylmalonique avec homocystinurie type cblX","synonyms":["Acidurie méthylmalonique avec homocystinurie type cblX","Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblX"]},"de":{"name":"Methylmalonazidämie mit Homocystinurie Typ cblX","synonyms":["Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblX","Methylmalonazidurie mit Homocystinurie Typ cblX"]},"es":{"name":"Acidemia metilmalónica con homocistinuria tipo cblX","synonyms":["Aciduria metilmalónica con homocistinuria tipo cblX","Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblX"]},"it":{"name":"Acidemia metilmalonica con omocistinuria, tipo cblX","synonyms":["Aciduria metilmalonica con omocistinuria, tipo cblX","Difetto combinato della sintesi dell'adenosilcobalamina e metilcobalamina, tipo cblX"]},"nl":{"name":"Methylmalonacidurie met homocystinurie, type cblX","synonyms":["Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese type cblX","Methylmalonacidemie met homocystinurie type cblX"]},"pt":{"name":"Acidemia metilmalónica com homocistinúria, tipo cbIX"},"pl":{"name":"Kwasica metylomalonowa z homocystynurią, typu cblX","synonyms":["Acyduria metylomalonowa z homocystynurią, typu cblX","Złożony defekt syntezy adenozylokobalaminy i metylokobalaminy, typu cblX"]},"cs":{"name":"Methylmalonová acidemie s homocystinurií, typ cbIX","synonyms":["Kombinovaná porucha syntézy adenosylkobalaminu a methylkobalaminu, typ cbIX","Methylmalonová acidurie s homocystinurií, typ cbIX"]},"uk":{"name":"Метилмалонова ацидемія з гомоцистинурією, тип cblX","synonyms":["Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblX","Метилмалонова ацидурія з гомоцистинурією, тип cblX"]},"zh":{"name":"cblX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cblX型"]},"tr":{"name":"Homosistinüri ile seyreden metilmalonik asidemi, tip cblX","synonyms":["Homosistinüri ile seyreden metilmalonik asidüri, tip cblX","Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblX"]}},"xrefs":[{"source":"OMIM","code":"309541","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":"0010657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796208","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":"HCFC1","name":"host cell factor C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24011988[PMID]","hgnc":"4839","ensembl":"ENSG00000172534","omim":"300019","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"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}