{"orpha":1561,"name":"Fatal infantile cytochrome C oxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fatal infantile COX deficiency","Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency"],"definition":"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1561/","orphanet_url":"https://www.orpha.net/en/disease/detail/1561","names":{"fr":{"name":"Déficit en cytochrome C oxydase fatal infantile","synonyms":["Cardio-encéphalo-myopathie fatale infantile par déficit en cytochrome oxydase C","Déficit en COX fatal infantile"],"definition":"Le déficit en cytochrome C oxydase fatal infantile est une maladie mitochondriale très rare caractérisée sur le plan clinique par une cardioencéphalomyopathie fatale au cours de l'enfance."},"de":{"name":"Cytochrom-c-Oxidase-Mangel, infantile fatale Form","synonyms":["COX-Mangel, infantiler fataler","Fatale infantile Kardioenzephalomyopathie durch Cytochrom-c-Oxidase-Mangel"],"definition":"Der Fatale infantile Cytochrom-C-Oxidase-Mangel, eine sehr seltene mitochondriale Krankheit, ist klinisch gekennzeichnet durch Kardio-enzephalo-myopathie, die im Säuglingsalter zum Tod führt."},"es":{"name":"Deficiencia de citocromo C oxidasa fatal del lactante","synonyms":["Cardioencefalomiopatía fatal del lactante por deficiencia de citocromo C oxidasa","Deficiencia de COX fatal del lactante"],"definition":"El déficit de citocromo C oxidasa infantil letal es una enfermedad mitocondrial muy poco frecuente que se caracteriza clínicamente por una cardioencefalomiopatía que resulta en muerte en la infancia."},"it":{"name":"Deficit di citocromo C ossidasi, infantile letale","synonyms":["Cardioencefalomiopatia infantile letale da deficit di citocromo C ossidasi","Deficit di COX, infantile letale"],"definition":"Il deficit di citocromo C ossidasi infantile fatale è una malattia mitocondriale molto rara caratterizzata da cardioencefalomiopatia che esita nella morte in epoca neonatale."},"nl":{"name":"Fatale infantiele deficiëntie van cytochroom C-oxidase","synonyms":["Fatale infantiele COX-deficiëntie","Fatale infantiele cardio-encefalomyopathie door deficiëntie van cytochroom C-oxidase"],"definition":"Een zeer zeldzame mitochondriale aandoening, klinisch gekenmerkt door cardio-encefalomyopathie die resulteert in sterfte in de zuigelingentijd."},"pt":{"name":"Deficiência de citocromo C oxidase fatal da infância","synonyms":["Cardio-encéfalo-miopatia por deficiência de citocromo C oxidase fatal","Deficiência de COX fatal da infância"]},"pl":{"name":"Dziecięcy Niedobór oksydazy cytochromu C","synonyms":["Śmiertelna dziecięca kardioencefalomiopatia z powodu niedoboru oksydazy cytochromu c","Śmiertelny dziecięcy Niedobór COX"]},"cs":{"name":"Fatální infantilní deficit cytochrom C oxidázy","synonyms":["Fatální infantilní deficit COX","Fatální infantilní kardioencefalomyopatie způsobená deficitem cytochrom C oxidázy"]},"uk":{"name":"Фатальний дефіцит цитохрому С оксидази у новонароджених","synonyms":["Фатальна дитяча кардіоенцефаломіопатія внаслідок дефіциту цитохрому С оксидази","Фатальний дефіцит COX у новонароджених"],"definition":"Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy."},"zh":{"name":"致死性婴儿细胞色素C氧化酶缺乏症","synonyms":["细胞色素C氧化酶缺乏所致致死性婴儿心脑肌病"]},"tr":{"name":"Ölümcül infantil sitokrom C oksidaz eksikliği","synonyms":["Letal infantil COX eksikliği","Sitokrom C oksidaz eksikliğine bağlı letal infantil kardiyoensefalomiyopati"]}},"xrefs":[{"source":"OMIM","code":"604377","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615119","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616501","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2001702410"},{"source":"MONDO","code":"0015487","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COA5","name":"cytochrome c oxidase assembly factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21457908[PMID]","hgnc":"33848","ensembl":"ENSG00000183513","omim":"613920","loci":["2q11.2"]},{"symbol":"COA6","name":"cytochrome c oxidase assembly factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24549041[PMID]_25339201[PMID]","hgnc":"18025","ensembl":"ENSG00000168275","omim":"614772","loci":["1q42.2"]},{"symbol":"COX15","name":"cytochrome c oxidase assembly factor COX15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2175025[PMID]_21412973[PMID]","hgnc":"2263","ensembl":"ENSG00000014919","omim":"603646","loci":["10q24.2"]},{"symbol":"SCO1","name":"synthesis of cytochrome C oxidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11013136[PMID]_19295170[PMID]_23878101[PMID]","hgnc":"10603","ensembl":"ENSG00000133028","omim":"603644","loci":["17p13.1"]},{"symbol":"SCO2","name":"synthesis of cytochrome C oxidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10545952[PMID]","hgnc":"10604","ensembl":"ENSG00000284194","omim":"604272","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"2175025[PMID]_15235026[PMID]_15863660[PMID]_21412973[PMID]_21457908[PMID]_26160915[PMID]_25339201[PMID]_10545952[PMID]_10749987[PMID]_18924171[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"2175025[PMID]_15235026[PMID]_15863660[PMID]_21412973[PMID]_21457908[PMID]_26160915[PMID]_25339201[PMID]_10545952[PMID]_10749987[PMID]_18924171[PMID]_ORPHANET"}],"phenotypes":null}