{"orpha":478042,"name":"Combined oxidative phosphorylation defect type 30","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD30"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-478042/","orphanet_url":"https://www.orpha.net/en/disease/detail/478042","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative type 30","synonyms":["COXPD30"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par l'apparition néonatale d'une hypotonie, de difficultés à s'alimenter, d'une surdité et d'une insuffisance respiratoire précoce dont l'issue est fatale. Des cas d'atteinte cardiaque et hépatique ont été rapportés. Le taux de lactate sérique est augmenté et le bilan métabolique montre une diminution de l'activité des complexes I et IV de la chaîne respiratoire mitochondriale dans les muscles squelettiques."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung Typ 30","synonyms":["COXPD30"],"definition":"Eine seltene mitochondriale Störung der oxidativen Phosphorylierung, die sich im Neugeborenenalter durch Hypotonie, Fütterungsschwierigkeiten, Schwerhörigkeit und frühes tödliches Atemversagen äußert. Es wurde über eine Beteiligung des Herzens und der Leber berichtet. Das Serumlaktat ist erhöht, und Stoffwechseluntersuchungen zeigen eine verminderte Aktivität der mitochondrialen Atmungskomplexe I und IV in der Skelettmuskulatur."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa tipo 30","synonyms":["COXPD30"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por el inicio neonatal de hipotonía, dificultades de alimentación, hipoacusia e insuficiencia respiratoria mortal temprana. También se ha descrito la afectación cardíaca y hepática. Los niveles de lactato sérico están aumentados y los estudios metabólicos muestran una disminución de la actividad de los complejos I y IV de la cadena respiratoria mitocondrial en el músculo esquelético."},"it":{"name":"Deficit combinato della fosforilazione ossidativa tipo 30","definition":"Si tratta di un difetto raro della fosforilazione ossidativa mitocondriale, caratterizzato da ipotonia ad esordio neonatale, difficoltà di alimentazione, sordità e insufficienza respiratoria letale ad esordio precoce. Può associarsi ad un interessamento cardiaco ed epatico. I livelli del lattato nel siero sono elevati; il profilo metabolico evidenzia una riduzione dell'attività dei complessi respiratori mitocondriali I e IV nei muscoli scheletrici."},"nl":{"name":"Gecombineerde oxidatieve fosforylatiedeficiëntie type 30","synonyms":["COXPD30","Gecombineerde oxidatieve fosforyleringdeficiëntie type 30"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis, gekarakteriseerd door neonatale aanvang van hypotonie, voedingsproblemen, doofheid, en vroeg fataal respiratoir falen. Betrokkenheid van hart en lever werd ook reeds gerapporteerd. Het lactaatgehalte in serum is verhoogd, en metabole onderzoeken tonen verminderde activiteit van complexen I en IV van de mitochondriale ademhalingsketen in skeletspier."},"pt":{"name":"Défice combinado da fosforilação oxidativa tipo 30"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej typu 30","synonyms":["COXPD30"]},"cs":{"name":"Kombinovaný defekt oxidativní fosforylace, typ 30","synonyms":["COXPD30"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, тип 30","synonyms":["COXPD30"],"definition":"A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle."},"zh":{"name":"复合氧化磷酸化缺陷30型","synonyms":["COXPD30"]},"tr":{"name":"Kombine oksidatif fosforilasyon defekti tip 30","synonyms":["COXPD30"]}},"xrefs":[{"source":"OMIM","code":"616974","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":"0014856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567605","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":"TRMT10C","name":"tRNA methyltransferase 10C, mitochondrial RNase P subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27132592[PMID]","hgnc":"26022","ensembl":"ENSG00000174173","omim":"615423","loci":["3q12.3"]}],"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":"27132592[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27132592[PMID]"}],"phenotypes":null}