{"orpha":324535,"name":"Combined oxidative phosphorylation defect type 11","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD11"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324535/","orphanet_url":"https://www.orpha.net/en/disease/detail/324535","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 11","synonyms":["COXPD11"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale, d'origine génétique, caractérisée par un phénotype très variable, allant d'une encéphalomyopathie néonatale/infantile létale avec acidose lactique, hyporéflexie/aréflexie, hypotonie sévère et insuffisance respiratoire à des cas moins graves à type d'hypotonie centrale, de retard de développement global, de surdité neurosensorielle congénitale et de maladie rénale. Les autres manifestations cliniques, observées de manière inconstante, comprennent déficience intellectuelle, crises convulsives et cardiomyopathie."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 11","synonyms":["COXPD11"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 11","synonyms":["COXPD11"],"definition":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente y de origen genético caracterizado por un fenotipo altamente variable que va desde encefalomiopatía neonatal / del lactante fatal con acidosis láctica, hiporreflexia / arreflexia, hipotonía severa e insuficiencia respiratoria hasta casos más leves en los que se observa hipotonía central, retraso del desarrollo global, pérdida auditiva neurosensorial congénita y enfermedad renal. Otros hallazgos clínicos adicionales, descritos de forma variable, incluyen discapacidad intelectual, crisis y miocardiopatía."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 11","synonyms":["COXPD11"],"definition":"È una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da un quadro clinico molto variabile, che comprende encefalomiopatia neonatale/infantile letale con acidosi lattica, iporeflessia/areflessia, ipotonia grave e insufficienza respiratoria, con possibili forme meno gravi caratterizzate da ipotonia centrale, ritardo dello sviluppo globale, sordità neurosensoriale congenita e malattia renale. Altri segni clinici variabili sono la disabilità intellettiva, le crisi epilettiche e la cardiomiopatia."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 11","synonyms":["COXPD11","Gecombineerde oxidatieve fosforyleringdeficiëntie type 11"],"definition":"Een zeldzame, genetische, mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door een zeer variabel fenotype gaande van een fatale neonatale/infantiele encefalomyopathie met lactaatacidose, hyporeflexie/areflexie, ernstige hypotonie en ademhalingsfalen tot minder ernstige gevallen met centrale hypotonie, algehele ontwikkelingsachterstand, congenitaal sensorineuraal gehoorverlies, en nierziekte. Bijkomende, variabel geobserveerde, klinische kenmerken zijn onder meer intellectuele beperking, insulten, en cardiomyopathie."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 11"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 11","synonyms":["COXPD11"]},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 11","synonyms":["COXPD11"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 11","synonyms":["COXPD11"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy."},"zh":{"name":"复合氧化磷酸化缺陷11型","synonyms":["COXPD11"],"definition":"一种罕见的遗传性线粒体氧化磷酸化障碍，其特征为高度可变的表型，从致命的新生儿/婴儿脑肌病伴乳酸酸中毒、反射减退/无反射、重度张力减退和呼吸衰竭到不太严重的变现，如中枢性张力减退、整体发育迟缓、先天性感音神经性听力丧失和肾脏疾病。另外，可观察到的其它临床特征包括智力障碍、癫痫发作和心肌病。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 11","synonyms":["COXPD11"]}},"xrefs":[{"source":"OMIM","code":"614922","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,"icd11_uri":"null"},{"source":"MONDO","code":"0013969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190991","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":"RMND1","name":"required for meiotic nuclear division 1 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23022098[PMID]_23022099[PMID]","hgnc":"21176","ensembl":"ENSG00000155906","omim":"614917","loci":["6q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"27412952[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27412952[PMID]"}],"phenotypes":null}