{"orpha":319504,"name":"Combined oxidative phosphorylation defect type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD8"],"definition":"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319504/","orphanet_url":"https://www.orpha.net/en/disease/detail/319504","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 8","synonyms":["COXPD8"],"definition":"Le déficit combiné de la phosphorylation oxydative type 8 est une maladie mitochondriale due à un défaut de synthèse d'une protéine mitochondriale, et conduisant à un déficit des complexes I, III et IV de la chaîne respiratoire au niveau des muscles squelettiques et du cerveau. Il se caractérise par une cardiomyopathie hypertrophique sévère, une hypoplasie pulmonaire, une faiblesse musculaire généralisée et une atteinte neurologique."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 8","synonyms":["COXPD8"],"definition":"Der kombinierte Defekt der oxidativen Phosphorylierung Typ 8 ist eine mitochondriale Erkrankung, die auf einem Defekt in der mitochondrialen Proteinsynthese beruht und zu einem Mangel an den Atmungskettenkomplexen I, III und IV im Herz- und Skelettmuskel und im Gehirn führt. Sie ist gekennzeichnet durch eine schwere hypertrophe Kardiomyopathie, pulmonale Hypoplasie, generalisierte Muskelschwäche und neurologische Beteiligung."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 8","synonyms":["COXPD8"],"definition":"La deficiencia combinada de la fosforilación oxidativa tipo 8 es una enfermedad mitocondrial causada por un defecto en la síntesis de proteínas mitocondriales, resultando en una deficiencia de los complejos I, III y IV de la cadena respiratoria en los músculos cardíacos y esqueléticos y en el cerebro. Está caracterizada por una miocardiopatía hipertrófica grave, hipoplasia pulmonar, debilidad muscular generalizada y afectación neurológica."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 8","synonyms":["COXPD8"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 8 è una malattia dei mitocondri causata da un difetto nella sintesi della proteina mitocondriale che esita nel deficit dei complessi della catena respiratoria I, III, e IV nei muscoli cardiaci e scheletrici e nel cervello; è caratterizzato da grave cardiomiopatia ipertrofica, ipoplasia polmonare, debolezza muscolare generalizzata e interessamento neurologico."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 8","synonyms":["COXPD8","Gecombineerd defect in oxidatieve fosforylering type 8"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 8 is een mitochondriale ziekte ten gevolge van een defect van de mitochondriale proteïnesynthese, dat resulteert in deficiëntie van complexen I, III en IV van de ademhalingsketen in de spier- en skeletspieren en in de hersenen. De ziekte wordt gekarakteriseerd door ernstige hypertrofische cardiomyopathie, pulmonale hypoplasie, gegeneraliseerde spierzwakte en neurologische betrokkenheid."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 8"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 8","synonyms":["COXPD8"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 8","synonyms":["COXPD8"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 8","synonyms":["COXPD8"],"definition":"Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement."},"zh":{"name":"复合氧化磷酸化缺陷8型","synonyms":["COXPD8"],"definition":"联合氧化磷酸化缺陷8型是一种线粒体疾病，线粒体蛋白质合成缺陷，导致心脏和骨骼肌以及大脑中呼吸链复合物I、III和IV缺乏，表现为重度肥厚性心肌病、肺发育不全、全身性肌肉无力和神经受累。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 8","synonyms":["COXPD8"]}},"xrefs":[{"source":"OMIM","code":"614096","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.23","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AARS2","name":"alanyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21549344[PMID]","hgnc":"21022","ensembl":"ENSG00000124608","omim":"612035","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"21549344[PMID]_25058219[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21549344[PMID]_25058219[PMID]"}],"phenotypes":null}