{"orpha":444458,"name":"Combined oxidative phosphorylation defect type 24","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD24"],"definition":"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444458/","orphanet_url":"https://www.orpha.net/en/disease/detail/444458","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 24","synonyms":["COXPD24"],"definition":"Anomalie de la phosphorylation oxydative mitochondriale caractérisée par un phénotype variable, comprenant retard de développement avec régression psychomotrice, déficience intellectuelle, épilepsie, syndrome de Leigh, perte auditive non syndromique, déficience visuelle et myopathie sévère. Une diminution de l'activité des complexes de la chaîne respiratoire mitochondriale et l'acidose lactique sont des manifestations courantes, et une atrophie cérébrale diffuse peut être associée."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 24","synonyms":["COXPD24"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 24","synonyms":["COXPD24"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por un fenotipo variable que incluye retraso del desarrollo con regresión psicomotora, discapacidad intelectual, epilepsia, síndrome de Leigh, pérdida auditiva no sindrómica, discapacidad visual y miopatía grave. Son hallazgos comunes la disminución de la actividad de los complejos de la cadera respiratoria mitocondrial y la acidosis láctica, pudiendo estar asociada la atrofia cerebral difusa."},"it":{"name":"Difetto combinato della fosforilazione ossidativa tipo 24","synonyms":["COXPD24"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 24 è una malattia rara della fosforilazione ossidativa mitocondriale, caratterizzata da un quadro clinico varabile, che comprende il ritardo dello sviluppo con regressione psicomotoria, la disabilità intellettiva, l'epilessia, la sindrome di Leigh, la sordità non sindromica, la compromissione della vista e la miopatia grave. Spesso si associa ad una riduzione dell'attività dei complessi della catena respiratoria mitocondriale e all'acidosi lattica. I pazienti possono presentare anche atrofia cerebrale diffusa."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 24","synonyms":["COXPD24","Gecombineerde oxidatieve fosforyleringdeficiëntie type 24"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 24 is een zeldzame mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door een variabel fenotype, met onder meer ontwikkelingsachterstand met psychomotorische regressie, intellectuele achterstand, epilepsie, syndroom van Leigh, niet-syndromaal gehoorverlies, visuele stoornis en ernstige myopathie. Verminderde activiteit van mitochondriale ademhalingsketencomplexen en lactaatacidose zijn gangbare bevindingen, en diffuse cerebrale atrofie kan geassocieerd zijn."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 24"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 24","synonyms":["COXPD24"],"definition":"*Złożony defekt fosforylacji oksydacyjnej typu 24 jest rzadkim zaburzeniem mitochondrialnej fosforylacji oksydacyjnej, charakteryzującym się zmiennym fenotypem, na który składa się opóźnienie rozwoju z regresem psychoruchowym, niepełnosprawność intelektualna, padaczka, zespół Leigha, niesyndromiczny niedosłuch, upośledzenie widzenia i ciężka miopatia. Często stwierdza się obniżoną aktywność mitochondrialnych kompleksów oddechowych i kwasicę mleczanową; może także wystąpić rozlany zanik mózgu."},"cs":{"name":"Kombinovaný deficit oxidativní fosforylace, typ 24","synonyms":["COXPD24"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 24","synonyms":["COXPD24"],"definition":"Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated."},"zh":{"name":"联合氧化磷酸化缺陷24型","synonyms":["COXPD24"],"definition":"联合氧化磷酸化缺陷型24型是一种罕见的线粒体氧化磷酸化疾病，其特征是表型多样化，包括发育迟缓并伴有精神发育退化，智力障碍，癫痫，李氏综合征，非综合征性听力减弱，视力障碍和严重的肌病。常见线粒体呼吸复合物活性降低和乳酸性酸中毒，也可出现弥漫性脑萎缩。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 24","synonyms":["COXPD24"]}},"xrefs":[{"source":"OMIM","code":"616239","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":"0014547","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015643","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":"NARS2","name":"asparaginyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25385316[PMID]","hgnc":"26274","ensembl":"ENSG00000137513","omim":"612803","loci":["11q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25629079[PMID]_25385316[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25629079[PMID]_25385316[PMID]"}],"phenotypes":null}