{"orpha":447954,"name":"Combined oxidative phosphorylation defect type 25","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD25"],"definition":"Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447954/","orphanet_url":"https://www.orpha.net/en/disease/detail/447954","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 25","synonyms":["COXPD25"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale avec diminution des activités enzymatique des complexes I et IV, caractérisée par une hypotonie, un retard de développement global, un pectus carinatum progressif à début néonatal sans autres anomalies squelettiques, un retard de croissance, une surdité neurosensorielle, une dysmorphie et des anomalies cérébrales telles qu'une atrophie cérébrale, une dilatation quadriventriculaire et un corps calleux fin sur sa partie postérieure."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 25","synonyms":["COXPD25"]},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 25","synonyms":["COXPD25"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial con disminución de la actividad enzimática de los complejos respiratorios I y IV. Está caracterizada por hipotonía, retraso global del desarrollo, aparición neonatal de <i>pectus carinatum</i> progresivo sin otras anomalías esqueléticas, falta de crecimiento, pérdida auditiva neurosensorial, características dismórficas y anomalías cerebrales, tales como atrofia cerebral, dilatación cuadriventricular y, posteriormente, adelgazamiento del cuerpo calloso."},"it":{"name":"Difetto combinato della fosforilazione ossidativa, tipo 25","synonyms":["COXPD25"],"definition":"Il difetto combinato della fosforilazione ossidativa tipo 25 è una malattia rara della fosforilazione ossidativa mitocondriale, associata ad una riduzione dell'attività enzimatica dei complessi I e IV della catena respiratoria mitocondriale, caratterizzata da ipotonia, ritardo dello sviluppo globale, pectus carinatum progressivo ad esordio neonatale in assenza di altre anomalie scheletriche, scarsa crescita, sordità neurosensoriale, dismorfismi ed anomalie cerebrali (atrofia cerebrale, dilatazione dei quattro ventricoli ed assottigliamento della porzione posteriore del corpo calloso)."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 25","synonyms":["COXPD25","Gecombineerde oxidatieve fosforyleringdeficiëntie type 25"],"definition":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 25 is een zeldzame mitochondriale oxidatieve fosforylatiestoornis met verminderde enzymatische activiteit van de ademhalingsketencomplexen I en IV, en wordt gekarakteriseerd door hypotonie, algehele ontwikkelingsachterstand, neonatale aanvang van progressieve pectus carinatum zonder andere skeletanomalieën, weinig groei, sensorineuraal gehoorverlies, dysmorfe kenmerken en afwijkingen van de hersenen zoals cerebrale atrofie, quadriventriculaire dilatatie en een dun posterieur corpus callosum."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 25"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 25","synonyms":["COXPD25"]},"cs":{"name":"Kombinovaný deficit oxidativní fosforylace, typ 25","synonyms":["COXPD25"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 25","synonyms":["COXPD25"],"definition":"Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly."},"zh":{"name":"联合氧化磷酸化缺陷25型","synonyms":["COXPD25"],"definition":"联合氧化磷酸化缺陷25型是一种罕见的线粒体氧化磷酸化疾病，其呼吸复合物I和IV酶活性降低，其特征是肌张力低下，整体发育迟缓，新生儿期起病的胸壁前凸畸形不伴其他骨骼异常，生长不良，感觉神经性听力减退，其他畸形和脑畸形，例如脑萎缩，第四脑室落账和胼胝体后部变薄。"},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 25","synonyms":["COXPD25"]}},"xrefs":[{"source":"OMIM","code":"616430","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":"0014636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567742","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MARS2","name":"methionyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25754315[PMID]","hgnc":"25133","ensembl":"ENSG00000247626","omim":"609728","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25754315[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25754315[PMID]"}],"phenotypes":null}