{"orpha":168566,"name":"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fatal mitochondrial disease due to COXPD3"],"definition":"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168566/","orphanet_url":"https://www.orpha.net/en/disease/detail/168566","names":{"fr":{"name":"Maladie mitochondriale fatale par déficit combiné de la phosphorylation oxydative de type 3","synonyms":["Maladie mitochondriale fatale par COXPD3"],"definition":"Maladie extrêmement rare et hétérogène sur le plan clinique, décrite chez environ 5 patients à ce jour. Les signes cliniques sont une hypotonie, une acidose lactique et une insuffisance hépatique, avec une encéphalomyopathie progressive ou une cardiomyopathie hypertrophique."},"de":{"name":"Fatale mitochondriale Krankheit durch kombinierten Defekt der oxidativen Phosphorylierung Typ 3","synonyms":["COXPD3","Fatale mitochondriale Krankheit durch COXPD3"],"definition":"Der kombinierte Mangel der oxidativen Phosphorylierung Typ 3 ist eine extrem seltene, klinisch heterogene Erkrankung, die bisher bei etwa 5 Patienten beschrieben wurde. Klinische Symptome sind Muskelhypotonie, Laktatazidose, Leberinsuffizienz und progressive Enzephalomyopathie oder hypertrophische Kardiomyopathie."},"es":{"name":"Enfermedad mitocondrial letal por deficiencia combinada de la fosforilación oxidativa tipo 3","synonyms":["Enfermedad mitocondrial letal por COXPD3"],"definition":"El déficit de fosforilación oxidativa combinada tipo 3 es un trastorno clínicamente heterogéneo, extremadamente poco frecuente (ha sido descrito en unos 5 pacientes hasta la fecha). Los signos clínicos incluyen hipotonía, acidosis láctica, e insuficiencia hepática, con encefalomiopatía progresiva o miocardiopatía hipertrófica."},"it":{"name":"Malattia mitocondriale fatale da difetto combinato della fosforilazione ossidativa, tipo 3","definition":"Il deficit combinato della fosforilazione ossidativa tipo 3 è una malattia molto rara, clinicamente eterogenea, descritta finora in circa 5 pazienti. I segni clinici comprendono l'ipotonia, l'acidosi lattica e l'insufficienza epatica, con encefalomiopatia progressiva o cardiomiopatia ipertrofica."},"nl":{"name":"Fatale mitochondriale ziekte door gecombineerde oxidatieve fosforylatiedeficiëntie type 3","synonyms":["Fatale mitochondriale ziekte door COXPD3"],"definition":"Een uiterst zeldzame, klinisch heterogene aandoening, tot op heden beschreven bij ongeveer vijf patiënten. Klinische verschijnselen zijn onder meer hypotonie, lactaatacidose, en leverinsufficiëntie, met progressieve encefalomyopathie of hypertrofische cardiomyopathie."},"pt":{"name":"Doença mitocondrial fatal por deficiência combinada da fosforilação oxidadativa 3"},"pl":{"name":"Śmiertelna choroba mitochondrialna spowodowana złożonym deficytem fosforylacji oksydatywnej 3","synonyms":["Śmiertelna choroba mitochondrialna spowodowana COXPD3"]},"cs":{"name":"Fatální mitochondriální onemocnění způsobené kombinovaným deficitem oxidativní fosforylace 3","synonyms":["Fatal mitochondrial disease due to COXPD3"]},"uk":{"name":"Летальна мітохондріальна хвороба, спричинена комбінованим дефектом окисного фосфорилювання типу 3","synonyms":["Летальна мітохондріальна хвороба через ХОЗЛ3"],"definition":"Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy."},"zh":{"name":"3型氧化磷酸化缺陷所致重症线粒体疾病","synonyms":["COXPD3所致致命性线粒体疾病"],"definition":"氧化磷酸化偶联缺陷3型所致致命性线粒体病是一种极为罕见的临床异质性疾病，已在5名患者中报道，其主要临床表现为肌张力低下、乳酸酸中毒和肝功能不全，同时伴有进行性脑肌病或肥厚性心肌病。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 3'e bağlı fatal mitokondriyal hastalık","synonyms":["COXPD3'e bağlı fatal mitokondriyal hastalık"]}},"xrefs":[{"source":"OMIM","code":"610505","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":"index","validated":true,"icd11_uri":"1235199648"},{"source":"MONDO","code":"0012512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303760","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TSFM","name":"Ts translation elongation factor, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17033963[PMID]","hgnc":"12367","ensembl":"ENSG00000123297","omim":"604723","loci":["12q14.1"]}],"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":"25037205[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25037205[PMID]"}],"phenotypes":null}