{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["COXPD","Combined OXPHOS defect","Combined OXPHOS deficiency","Combined oxidative phosphorylation defect"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-35696/","orphanet_url":"https://www.orpha.net/en/disease/detail/35696","names":{"fr":{"name":"Maladie mitochondriale par défaut de synthèse des protéines mitochondriales","synonyms":["COXPD","Déficit OXPHOS combiné","Déficit combiné de la phosphorylation oxydative"]},"de":{"name":"Mitochondriopathie durch Defekt der mitochondrialen Proteinsynthese","synonyms":["COXPD","Kombinierte Störung der oxidativen Phosphorylierung","OXPHOS-Defekt, kombinierter"]},"es":{"name":"Trastorno mitocondrial por un defecto de la síntesis proteica mitocondrial","synonyms":["Defecto combinado de fosforilación oxidativa","Deficiencia combinada de OXPHOS","COXPD","Defecto combinado de OXPHOS"]},"it":{"name":"Disturbo mitocondriale da difetto nella sintesi delle proteine mitocondriali","synonyms":["COXPD","Deficit combinato di OXPHOS","Difetto combinato della fosforilazione ossidativa","Difetto combinato di OXPHOS"]},"nl":{"name":"Mitochondriale stoornis door een defect van mitochondriale proteïnesynthese","synonyms":["COXPD","Gecombineerd OXPHOS-defect","Gecombineerde OXPHOS-deficiëntie","Gecombineerde oxidatieve fosforylatiedeficiëntie"]},"pt":{"name":"Deficiências múltiplas na cadeia respiratória"},"pl":{"name":"Zaburzenia mitochondrialne z powodu defektu syntezy białka mitochondrialnego","synonyms":["COXPD","Złożony defekt fosforylacji oksydacyjnej","Złożony defekt OXPHOS","Złożony Niedobór OXPHOS"]},"cs":{"name":"Mitochondriální poruchy způsobené poruchou syntézy mitochondriálních proteinů","synonyms":["COXPD","Kombinovaná porucha OXPHOS","Kombinovaný deficit OXPHOS","Kombinovaná porucha oxidativní fosforylace"]},"uk":{"name":"Мітохондріальне порушення внаслідок дефекту синтезу мітохондріального білка","synonyms":["Комбінований дефект окисного фосфорилювання","Комбінований дефект OXPHOS","Комбінований дефіцит OXPHOS","COXPD"]},"zh":{"name":"线粒体蛋白合成缺陷所致线粒体疾病","synonyms":["联合氧化磷酸化缺乏症"]},"tr":{"name":"Mitokondriyal protein sentezindeki defekte bağlı mitokondriyal bozukluk","synonyms":["COXPD","Kombine OXPHOS defekti","Kombine OXPHOS eksikliği","Kombine oksidatif fosforilasyon defekti"]}},"xrefs":[{"source":"MONDO","code":"18157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4700505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":309139,"name":"OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]}],"children":[{"orpha":217371,"name":"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","type":"Disease"},{"orpha":314603,"name":"Autosomal recessive spastic ataxia with leukoencephalopathy","type":"Disease"},{"orpha":254343,"name":"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome","type":"Disease"},{"orpha":466722,"name":"Autosomal recessive spastic paraplegia type 77","type":"Disease"},{"orpha":497623,"name":"C12ORF65-related combined oxidative phosphorylation defect","type":"Clinical group"},{"orpha":436174,"name":"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","type":"Disease"},{"orpha":324535,"name":"Combined oxidative phosphorylation defect type 11","type":"Disease"},{"orpha":319514,"name":"Combined oxidative phosphorylation defect type 13","type":"Disease"},{"orpha":319519,"name":"Combined oxidative phosphorylation defect type 14","type":"Disease"},{"orpha":319524,"name":"Combined oxidative phosphorylation defect type 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hyperammonemia","type":"Disease"},{"orpha":352563,"name":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","type":"Disease"},{"orpha":137898,"name":"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","type":"Disease"},{"orpha":314051,"name":"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome","type":"Disease"},{"orpha":314637,"name":"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","type":"Disease"},{"orpha":2598,"name":"Mitochondrial myopathy and sideroblastic anemia","type":"Disease"},{"orpha":466784,"name":"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect","type":"Disease"},{"orpha":2855,"name":"Perrault syndrome","type":"Disease"},{"orpha":166073,"name":"Pontocerebellar hypoplasia type 6","type":"Clinical subtype"},{"orpha":570491,"name":"QRSL1-related combined oxidative phosphorylation defect","type":"Disease"},{"orpha":238329,"name":"Severe X-linked mitochondrial encephalomyopathy","type":"Disease"},{"orpha":99013,"name":"Spastic paraplegia type 7","type":"Disease"},{"orpha":101109,"name":"Spinocerebellar ataxia type 28","type":"Disease"},{"orpha":457223,"name":"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect","type":"Disease"},{"orpha":572798,"name":"WARS2-related combined oxidative phosphorylation defect","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}