{"orpha":457223,"name":"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Syndromic sensorineural deafness due to COXPD","Syndromic sensorineural hearing loss due to COXPD"],"definition":"A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457223/","orphanet_url":"https://www.orpha.net/en/disease/detail/457223","names":{"fr":{"name":"Surdité neurosensorielle syndromique due à un déficit combiné de la phosphorylation oxydative","synonyms":["Surdité neurosensorielle syndromique due à un COXPD"],"definition":"Maladie mitochondriale rare caractérisée par un phénotype variable associant une surdité neurosensorielle congénitale, une hypoglycémie intermittente ou persistante et un dysfonctionnement hépatique et rénal pouvant évoluer vers une insuffisance organique. Les taux de lactate sérique sont augmentés de façon variable, une déficience des complexes I, III et IV de la chaîne respiratoire mitochondriale est observée dans le foie et dans les fibroblastes."},"de":{"name":"Syndromale sensorineurale Schwerhörigkeit durch kombinierten Defekt der oxidativen Phosphorylierung","synonyms":["Schwerhörigkeit, syndromale sensorineurale, durch COXPD","Syndromaler neurosensorischer Hörverlust durch COXPD"],"definition":"Eine seltene mitochondriale Erkrankung, die durch einen variablen Phänotyp gekennzeichnet ist, der kongenitale sensorineurale Schwerhörigkeit, intermittierende oder anhaltende Hypoglykämie sowie Leber- und Nierenfunktionsstörungen umfasst, die möglicherweise zu Organversagen führen können. Die Laktatwerte im Serum können erhöht sein, in der Leber und in Fibroblasten wird ein Mangel an mitochondrialen Atmungskettenkomplexen I, III und IV beobachtet."},"es":{"name":"Sordera neurosensorial sindrómica por una deficiencia combinada de la fosforilación oxidativa","synonyms":["Hipoacusia neurosensorial sindrómica por COXPD","Sordera neurosensorial sindrómica por COXPD"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por un fenotipo variable que comprende sordera neurosensorial congénita, hipoglucemia intermitente o persistente y disfunción hepática y renal que progresa potencialmente a fallo orgánico. Los niveles séricos de lactato están incrementados de forma variable y se observa un déficit de los complejos I, III y IV de la cadena respiratoria mitocondrial en el hígado y en los fibroblastos."},"it":{"name":"Sordità neurosensoriale sindromica da difetto combinato della fosforilazione ossidativa","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da un quadro clinico variabile che comprende la sordità neurosensoriale congenita, l'ipoglicemia intermittente o persistente, e la disfunzione epatica e renale che possono progredire verso l'insufficienza d'organo. I livelli di lattato nel siero sono aumentati. Nel fegato e nei fibroblasti si osserva un difetto dei complessi I, III e IV della catena respiratoria mitocondriale."},"nl":{"name":"Syndromale sensorineurale doofheid door gecombineerde oxidatieve fosforylatiedeficiëntie","synonyms":["Syndromaal sensorineuraal gehoorverlies door COXPD","Syndromale sensorineurale doofheid door COXPD","Syndromale sensorineurale doofheid door gecombineerde oxidatieve fosforyleringdeficiëntie"],"definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door een variabel fenotype bestaande uit congenitale sensorineurale doofheid, intermitterende of persisterende hypoglycemie, en disfunctie van lever en nier die mogelijk kunnen evolueren tot orgaanfalen. Lactaatgehaltes in serum zijn variabel verhoogd, en in lever en fibroblasten wordt deficiëntie van complexen I, III, en IV van de mitochondriale ademhalingsketen waargenomen."},"pt":{"name":"Surdez neurossensorial sindromática por défice combinado na fosforilação oxidativa"},"pl":{"name":"Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana złożonym niedoborem fosforylacji oksydacyjnej","synonyms":["Syndromiczna czuciowo-nerwowa głuchota spowodowana COXPD","Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana COXPD"]},"cs":{"name":"Syndromická senzorineurální hluchota způsobená kombinovým deficitem oxidativní fosforylace","synonyms":["Syndromická senzorineurální hluchota způsobená COXPD","Syndromická senzorineurální ztráta sluchu způsobená COXPD"]},"uk":{"name":"Синдромальна сенсоневральна глухота, зумовлена комбінованим дефектом окисного фосфорилювання","synonyms":["Синдромальна сенсоневральна глухота внаслідок COXPD","Синдромальна сенсоневральна приглухуватість внаслідок COXPD"],"definition":"A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts."},"zh":{"name":"联合氧化磷酸化缺陷导致的综合征性感音神经性耳聋","synonyms":["COXPD导致的综合征性感音性耳聋"],"definition":"一种罕见的线粒体疾病，其特点是多表型，包括先天性感音神经性耳聋、间歇性或持续性低血糖、肝肾功能障碍，有可能发展为器官衰竭。血清乳酸水平不同程度地增加，在肝脏和成纤维细胞中观察到线粒体呼吸链复合物I、III和IV的缺乏。"},"tr":{"name":"Kombine oksidatif fosforilasyon defektine bağlı sendromik sensörinöral sağırlık","synonyms":["COXPD'ye bağlı sendromik sensörinöral sağırlık","COXPD'ye bağlı sendromik sensörinöral işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"617872","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":"0018706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"54741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4693450","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MRPS7","name":"mitochondrial ribosomal protein S7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25556185[PMID]","hgnc":"14499","ensembl":"ENSG00000125445","omim":"611974","loci":["17q25.1"]}],"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":"25556185[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25556185[PMID]"}],"phenotypes":null}