{"orpha":369913,"name":"Combined oxidative phosphorylation defect type 17","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD17"],"definition":"Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369913/","orphanet_url":"https://www.orpha.net/en/disease/detail/369913","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 17","synonyms":["COXPD17"],"definition":"Maladie mitochondriale génétique rare par défaut de synthèse des protéines mitochondriales caractérisée par une cardiomyopathie hypertrophique sévère d'apparition infantile (évoluant dans certains cas vers une cardiomyopathie dilatée), associée à un retard de croissance, un retard de développement global, une hypotonie musculaire, un taux élevé de lactate sérique et un déficit en complexe I précisé par la biopsie de tissu musculaire squelettique. Une déficience intellectuelle, un épanchement péricardique et un phénotype cardiaque léger ont également été rapportés."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 17","synonyms":["COXPD17"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 17","synonyms":["COXPD17"],"definition":"Es un trastorno mitocondrial, genético y poco frecuente, debido a un defecto en la síntesis de proteínas mitocondriales. Está caracterizado por un inicio en la lactancia de cardiomiopatía hipertrófica grave (que en ocasiones evoluciona a cardiomiopatía dilatada) asociada a fallo de medro, retraso global del desarrollo, hipotonía muscular, niveles elevados de lactato sérico y deficiencia del complejo I en biopsias de músculo esquelético. También se han descrito casos de discapacidad intelectual, derrame pericárdico y un fenotipo cardíaco leve."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 17","synonyms":["COXPD17"],"definition":"Il difetto combinato della fosforilazione ossidativa, tipo 17 è una malattia genetica rara dei mitocondri causata da un'alterazione della sintesi proteica mitocondriale, caratterizzata da cardiomiopatia ipertrofica grave ad esordio neonatale (che occasionalmente progredisce in una cardiomiopatia dilatativa), associata a ritardo della crescita e dello sviluppo globale, ipotonia muscolare e livelli elevati di lattato nel siero; la biopsia dei muscoli scheletrici evidenzia un deficit del complesso I. I pazienti possono presentare anche disabilità intellettiva, versamento pericardico e un fenotipo cardiaco non grave."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 17","synonyms":["COXPD17","Gecombineerd defect in oxidatieve fosforylering type 17"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 17 is een zeldzame, genetische, mitochondriale stoornis door een defect aan de mitochondriale proteïnesynthese, en wordt gekarakteriseerd door infantiele aanvang van ernstige hypertrofische cardiomyopathie (die occasioneel evolueert tot gedilateerde cardiomyopathie), geassocieerd met groeiachterstand, algehele ontwikkelingsachterstand, musculaire hypotonie, verhoogd gehalte van lactaat in het serum, en deficiëntie van complex I in biopten van skeletspieren. Intellectuele achterstand, pericardvocht en een mild cardiaal fenotype werden ook reeds gerapporteerd."},"pt":{"name":"Defeito combinado da fosforilação oxidativa, tipo 17"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 17","synonyms":["COXPD17"],"definition":"*Złożony defekt fosforylacji oksydacyjnej typu 17 jest rzadkim, genetycznie uwarunkowanym zaburzeniem mitochondrialnym spowodowanym defektem syntezy białek mitochondrialnych, które charakteryzuje się ciężką kardiomiopatią przerostową o wczesnym początku (która czasami przechodzi w kardiomiopatię rozstrzeniową), z towarzyszącym zaburzeniem prawidłowego rozwoju, całościowym opóźnieniem rozwoju, hipotonią mięśniową, podwyższonym stężeniem kwasu mlekowego w surowicy i niedoborem kompleksu I w biopsji mięśni szkieletowych. Opisywano również niepełnosprawność intelektualną, wysięk osierdziowy i łagodne objawy sercowe."},"cs":{"name":"Kombinovaná porucha oxidativní fosforylace, typ 17","synonyms":["COXPD17"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 17","synonyms":["COXPD17"],"definition":"Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported."},"zh":{"name":"结合氧化磷酸化不足17型","synonyms":["COXPD17"],"definition":"联合氧化磷酸化缺陷17型是一种罕见的遗传性线粒体疾病，由线粒体蛋白质合成缺陷引起，其特征为婴儿期发病的严重肥厚型心肌病(偶尔发展为扩张型心肌病)，与体重增长不良、全面发育延迟、肌张力低下、血清乳酸升高和骨骼肌活检中的复合物I缺乏有关。智力障碍、心包积液和轻度的心脏异常也有被报道。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 17","synonyms":["COXPD17"]}},"xrefs":[{"source":"OMIM","code":"615440","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":"0014190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809526","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ELAC2","name":"elaC ribonuclease Z 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23849775[PMID]","hgnc":"14198","ensembl":"ENSG00000006744","omim":"605367","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"23849775[PMID]_27769300[PMID]_28441660[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27769300[PMID]_28441660[PMID]"}],"phenotypes":null}