{"orpha":254905,"name":"Isolated cytochrome C oxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated COX deficiency","Isolated mitochondrial respiratory chain complex IV deficiency"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254905/","orphanet_url":"https://www.orpha.net/en/disease/detail/254905","names":{"fr":{"name":"Déficit isolé en cytochrome C oxydase","synonyms":["Déficit isolé en COX","Déficit isolé en complexe IV de la chaîne respiratoire mitochondriale"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par un phénotype clinique très variable, comprenant un type mitochondrial infantile bénin affectant principalement le muscle squelettique, une myopathie mitochondriale infantile létale liée à une acidose métabolique sévère et un dysfonctionnement mitochondrial dans le muscle squelettique et souvent dans le coeur, le syndrome de Leigh, qui provoque une encéphalopathie sévère, précoce, progressive et létale, et le syndrome de Leigh type franco-canadien, affectant principalement les muscles squelettiques, mais aussi le cerveau et le foie."},"de":{"name":"Cytochrom-c-Oxidase-Mangel, isolierter","synonyms":["COX-Mangel, isolierter","Isolierter mitochondrialer Atmungskettendefekt im Komplex IV"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch einen sehr variablen klinischen Phänotyp gekennzeichnet ist. Dazu gehören ein benigner infantiler mitochondrialer Typ, der hauptsächlich die Skelettmuskulatur betrifft, eine letale infantile mitochondriale Myopathie, die mit einer schweren metabolischen Azidose und einer mitochondrialen Dysfunktion in der Skelettmuskulatur und häufig auch im Herzen einhergeht, das Leigh-Syndrom, das eine schwere, früh einsetzende, fortschreitende und tödlich verlaufende Enzephalopathie verursacht, und das Leigh-Syndrom vom frankokanadischen Typ, das hauptsächlich die Skelettmuskulatur, aber auch das Gehirn und die Leber befällt."},"es":{"name":"Deficiencia aislada de citocromo C oxidasa","synonyms":["Deficiencia aislada de COX","Deficiencia aislada del complejo 4 de la cadena respiratoria mitocondrial","Deficiencia aislada del complejo IV de la cadena respiratoria mitocondrial"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por un fenotipo clínico altamente variable que incluye: un tipo mitocondrial benigno del lactante que afecta principalmente al músculo esquelético una miopatía mitocondrial letal del lactante vinculada a acidosis metabólica grave y una disfunción mitocondrial del músculo esquelético y a menudo también del corazón, el síndrome de Leigh, que provoca una encefalopatía grave, de aparición temprana, progresiva y mortal, y el síndrome de Leigh de tipo franco-canadiense, que afecta mayoritariamente al músculo esquelético, pero también al cerebro y al hígado."},"it":{"name":"Deficit isolato della citocromo C ossidasi","synonyms":["Deficit isolato del complesso IV della catena respiratoria mitocondriale","Deficit isolato di COX"],"definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, caratterizzato da un fenotipo clinico molto variabile, che comprende una forma mitocondriale infantile benigna, che colpisce per lo più i muscoli scheletrici, una miopatia mitocondriale infantile letale, legata a una grave acidosi metabolica e a una disfunzione mitocondriale nei muscoli scheletrici e spesso anche nel cuore, la sindrome di Leigh, che causa un'encefalopatia grave ad esordio precoce, progressiva e letale, e la sindrome di Leigh tipo franco-canadese, che colpisce soprattutto i muscoli scheletrici, ma anche il cervello e il fegato."},"nl":{"name":"Geïsoleerde cytochroom C-oxidasedeficiëntie","synonyms":["Geïsoleerde COX-deficiëntie","Geïsoleerde mitochondriale ademhalingsketencomplex IV-deficiëntie"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door een zeer variabel klinisch fenotype, met onder meer een goedaardig infantiel mitochondriaal type dat vooral skeletspier aantast, een letale infantiele mitochondriale myopathie gelinkt aan ernstige metabole acidose en mitochondriale disfunctie in skeletspier en vaak ook in het hart, syndroom van Leigh dat ernstige, vroeg optredende, progressieve, en fatale encefalopathie veroorzaakt, en Frans-Canadees type van syndroom van Leigh dat vooral skeletspier aantast, maar ook hersenen en lever."},"pt":{"name":"Deficiência isolada da citocromo C oxidase","synonyms":["Deficiência isolada da COX","Deficiência isolada do complexo IV da cadeia respiratória mitocondrial"]},"pl":{"name":"Izolowany Niedobór oksydazy cytochromu c","synonyms":["Izolowany Niedobór COX","Izolowany Niedobór kompleksu IV mitochondrialnego łańcucha oddechowego"]},"cs":{"name":"Izolovaný deficit cytochrom C oxidázy","synonyms":["Izolovaný deficit COX","Izolovaný deficit komplexu IV mitochondriálního respiračního řetězce"]},"uk":{"name":"Ізольований дефіцит цитохрому С оксидази","synonyms":["Ізольований дефіцит COX","Ізольований дефіцит IV комплексу мітохондріального дихального ланцюга"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver."},"zh":{"name":"孤立性细胞色素C氧化酶缺乏症","synonyms":["孤立性线粒体呼吸链复合物IV缺乏症"]},"tr":{"name":"İzole sitokrom C oksidaz eksikliği","synonyms":["İzole COX eksikliği","İzole mitokondriyal solunum zinciri kompleksi IV eksikliği"]}},"xrefs":[{"source":"OMIM","code":"220110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619046","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619048","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619051","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619052","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619053","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619054","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619055","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619058","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619059","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619060","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619061","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619062","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619063","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619064","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619355","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1247726031"},{"source":"MONDO","code":"0009068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D030401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779825","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"48","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254846,"name":"Isolated oxidative phosphorylation complex disorder","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":"COX5A","name":"cytochrome c oxidase subunit 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28247525[PMID]","hgnc":"2267","ensembl":"ENSG00000178741","omim":"603773","loci":["15q24.2"]},{"symbol":"COX8A","name":"cytochrome c oxidase subunit 8A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26685157[PMID]","hgnc":"2294","ensembl":"ENSG00000176340","omim":"123870","loci":["11q13.1"]},{"symbol":"MT-CO2","name":"mitochondrially encoded cytochrome c oxidase II","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10205264[PMID]_10486321[PMID]_11471180[PMID]_11558799[PMID]_11579424[PMID]","hgnc":"7421","ensembl":"ENSG00000198712","omim":"516040","loci":["mitochondria"]},{"symbol":"COA3","name":"cytochrome c oxidase assembly factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25604084[PMID]","hgnc":"24990","ensembl":"ENSG00000183978","omim":"614775","loci":["17q21.2"]},{"symbol":"COX10","name":"cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10767350[PMID]_12928484[PMID]_15455402[PMID]","hgnc":"2260","ensembl":"ENSG00000006695","omim":"602125","loci":["17p12"]},{"symbol":"COX14","name":"cytochrome c oxidase assembly factor COX14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22243966[PMID]","hgnc":"28216","ensembl":"ENSG00000178449","omim":"614478","loci":["12q13.12"]},{"symbol":"COX16","name":"cytochrome c oxidase assembly factor COX16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33169484[PMID]","hgnc":"20213","ensembl":"ENSG00000133983","omim":"618064","loci":["14q24.2"]},{"symbol":"COX20","name":"cytochrome c oxidase assembly factor COX20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23125284[PMID]","hgnc":"26970","ensembl":"ENSG00000203667","omim":"614698","loci":["1q44"]},{"symbol":"COX4I1","name":"cytochrome c oxidase subunit 4I1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31290619[PMID]","hgnc":"2265","ensembl":"ENSG00000131143","omim":"123864","loci":["16q24.1"]},{"symbol":"COX6A2","name":"cytochrome c oxidase subunit 6A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31155743[PMID]","hgnc":"2279","ensembl":"ENSG00000156885","omim":"602009","loci":["16p11.2"]},{"symbol":"COX6B1","name":"cytochrome c oxidase subunit 6B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18499082[PMID]_24781756[PMID]","hgnc":"2280","ensembl":"ENSG00000126267","omim":"124089","loci":["19q13.12"]},{"symbol":"MT-CO1","name":"mitochondrially encoded cytochrome c oxidase I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12140182[PMID]_16284789[PMID]_11579424[PMID]","hgnc":"7419","ensembl":"ENSG00000198804","omim":"516030","loci":["mitochondria"]},{"symbol":"MT-CO3","name":"mitochondrially encoded cytochrome c oxidase III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8630495[PMID]_9634511[PMID]_11063732[PMID]_12414820[PMID]_11579424[PMID]","hgnc":"7422","ensembl":"ENSG00000198938","omim":"516050","loci":["mitochondria"]},{"symbol":"PET117","name":"PET117 cytochrome c oxidase chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28386624[PMID]","hgnc":"40045","ensembl":"ENSG00000232838","omim":"614771","loci":["20p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Mitochondrial inheritance"],"onset":[],"prevalence":[],"phenotypes":null}