{"orpha":477684,"name":"Combined oxidative phosphorylation defect type 26","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD26"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477684/","orphanet_url":"https://www.orpha.net/en/disease/detail/477684","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 26","synonyms":["COXPD26"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par un phénotype très variable pouvant se manifester par une intolérance à l'effort associée à une importante dyspnée d'effort, une faiblesse musculaire progressive, une spasticité et une neuropathie, en l'absence de troubles cognitifs ou d'atteinte cardiaque, ou par un retard global du développement, un retard de croissance, une hypotonie et une spasticité. Une cardiomyopathie hypertrophique, une atrophie optique, des crises convulsives et une dysmorphie faciale ont également été rapportés chez les patients présentant le phénotype le plus sévère. Le taux de lactate sérique peut être élevé, et la biopsie musculaire révèle des caractéristiques myopathiques et une diminution variable de l'activité des complexes de la chaîne respiratoire mitochondriale."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 26","synonyms":["COXPD26"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die durch einen sehr variablen Phänotyp gekennzeichnet ist, der sich als Belastungsintoleranz mit ausgeprägter Belastungsdyspnoe, fortschreitender Muskelschwäche, Spastizität und Neuropathie, jedoch ohne kognitive Beeinträchtigung oder kardiale Beteiligung, oder als globale Entwicklungsverzögerung, Wachstumsretardierung, Hypotonie und Spastizität äußern kann. Hypertrophe Kardiomyopathie, Optikusatrophie, Krampfanfälle und Gesichtsdysmorphien wurden bei dem schwereren Phänotyp ebenfalls berichtet. Das Serumlaktat kann erhöht sein, und die Muskelbiopsie zeigt myopathische Merkmale und eine variabel verringerte Aktivität der mitochondrialen Atmungskettenkomplexe."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 26","synonyms":["COXPD26"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por un fenotipo altamente variable que puede presentarse como intolerancia al ejercicio con disnea de esfuerzo intensa, debilidad muscular progresiva, espasticidad y neuropatía, pero sin deterioro cognitivo ni afectación cardíaca, o como retraso global del desarrollo, retraso del crecimiento, hipotonía y espasticidad. En pacientes con un fenotipo más grave también se ha descrito miocardiopatía hipertrófica, atrofia óptica, crisis y rasgos faciales dismórficos. El lactato sérico puede estar elevado, y la biopsia muscular muestra rasgos miopáticos y una disminución variable de la actividad de los complejos de la cadena respiratoria mitocondrial."},"it":{"name":"Difetto combinato della fosforilazione ossidativa tipo 26","definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, caratterizzato da un fenotipo molto variabile che può manifestarsi sotto forma di intolleranza all'esercizio fisico con marcata dispnea da sforzo, debolezza muscolare progressiva, spasticità e neuropatia, in assenza di deficit cognitivo o del coinvolgimento cardiaco, oppure sotto forma di ritardo dello sviluppo globale e della crescita, ipotonia e spasticità. Nei casi più gravi, il deficit si associa alla cardiomiopatia ipertrofica, all'atrofia ottica, alle crisi epilettiche e ai dismorfismi facciali. I livelli di lattato nel siero possono essere elevati. La biopsia muscolare evidenzia alterazioni miopatiche e una riduzione variabile dell'attività dei complessi della catena respiratoria mitocondriale."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 26","synonyms":["COXPD26","Gecombineerde oxidatieve fosforyleringdeficiëntie type 26"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door een zeer variabel fenotype dat zich kan presenteren als inspanningsintolerantie met prominente inspanningsdyspneu, progressieve spierzwakte, spasticiteit, en neuropathie, maar zonder cognitieve functiestoornis of betrokkenheid van hart, of als algehele ontwikkelingsachterstand, groeiretardatie, hypotonie, en spasticiteit. Hypertrofische cardiomyopathie, opticusatrofie, insulten, en dysmorfe gelaatskenmerken werden ook reeds gerapporteerd bij het ernstigere fenotype. Het lactaatgehalte in serum is mogelijk verhoogd, en spierbiopsie toont myopathische kenmerken en variabel verminderde activiteit van complexen van de mitochondriale ademhalingsketen."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 26"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 26","synonyms":["COXPD26"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 26","synonyms":["COXPD26"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 26","synonyms":["COXPD26"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes."},"zh":{"name":"复合氧化磷酸化缺陷26型","synonyms":["COXPD26"]},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 26","synonyms":["COXPD26"]}},"xrefs":[{"source":"OMIM","code":"616539","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,"icd11_uri":"null"},{"source":"MONDO","code":"0014684","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567741","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":"TRMT5","name":"tRNA methyltransferase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26189817[PMID]","hgnc":"23141","ensembl":"ENSG00000126814","omim":"611023","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"26189817[PMID]_2544623[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26189817[PMID]_2544623[PMID]"}],"phenotypes":null}