{"orpha":570491,"name":"QRSL1-related combined oxidative phosphorylation defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["QRSL1-related COXPD"],"definition":"A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-570491/","orphanet_url":"https://www.orpha.net/en/disease/detail/570491","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative associé à QRSL1","synonyms":["COXPD associé à QRSL1"],"definition":"Maladie mitochondriale rare caractérisée par l'apparition, pendant la période prénatale ou pendant la petite enfance, d'une cardiomyopathie, d'un retard de croissance et d'un retard de développement global, d'une perte auditive neurosensorielle et d'une acidose lactique sévère. Des cas d'atteinte hépatique et d'insuffisance surrénale, ainsi que des encéphalopathies et des anomalies de la substance grise profonde confirmées par IRM cérébrale, ont été rapportés."},"de":{"name":"Kombinierter Defekt der oxidativen Phosphorylierung, QRSL1-assoziierter","synonyms":["COXPD, QRSL1-assoziiert"],"definition":"Eine seltene mitochondriale Erkrankung, die durch eine pränatal oder frühkindlich auftretende schwere Kardiomyopathie, Gedeihstörung und globale Entwicklungsverzögerung, sensorineurale Schwerhörigkeit und schwere Laktatazidose gekennzeichnet ist. Auch eine Beteiligung der Leber und eine Nebenniereninsuffizienz sowie eine Enzephalopathie und Anomalien der tiefen grauen Substanz im MRT des Gehirns wurden berichtet."},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa asociada a QRSL1","synonyms":["COXPD asociada a QRSL1"],"definition":"Es una rara enfermedad mitocondrial poco frecuente caracterizada por la aparición prenatal o en el lactante de una grave cardiomiopatía, fallo de medro y retraso del desarrollo global, hipoacusia neurosensorial y acidosis láctica grave. También se ha descrito afectación hepática e insuficiencia suprarrenal, así como encefalopatía y anomalías de las estructuras de la materia gris profunda en la RM cerebral."},"it":{"name":"Difetto combinato della fosforilazione ossidativa correlato a QRSL1","synonyms":["COXPD correlato a QRSL1"],"definition":"Si tratta di una malattia mitocondriale rara, che esordisce in epoca prenatale o nella prima infanzia con cardiomiopatia grave, ritardo della crescita e dello sviluppo globale, sordità neurosensoriale e acidosi lattica grave. I pazienti possono presentare anche un coinvolgimento epatico e insufficienza surrenalica; la RMN cerebrale evidenzia encefalopatia e anomalie strutturali della sostanza grigia profonda."},"nl":{"name":"QRSL1-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie","synonyms":["QRSL1-gerelateerde COXPD"],"definition":"Een zeldzame mitochondriale aandoening, gekenmerkt door prenatale of vroeg infantiele aanvang van ernstige cardiomyopathie, niet-gedijen en algehele ontwikkelingsachterstand, sensorineuraal gehoorverlies, en ernstige lactaatacidose. Betrokkenheid van lever en bijnierschorsinsufficiëntie, alsook encefalopathie en anomalieën van diepliggende structuren van grijze stof bij MRI van hersenen werden ook reeds gerapporteerd."},"pt":{"name":"Defeito combinado da fosforilação oxidativa QRSL1-relacionado","definition":"Doença mitocondrial rara caracterizada por início pré-natal ou infantil precoce de cardiomiopatia grave, atraso de crescimento e perturbação global de desenvolvimento, perda auditiva neurossensorial e acidose lática grave. O envolvimento hepático e a insuficiência suprarrenal, assim como a encefalopatia e anomalias de estruturas profundas da substância cinzenta na ressonância magnética cerebral também foram relatados."},"pl":{"name":"Defekt złożonej fosforylacji oksydacyjnej związany z QRSL1","synonyms":["QRSL1-related COXPD"]},"cs":{"name":"QRSL1-vázaný kombinovaný defekt oxidativní fosforylace","synonyms":["QRSL1-related COXPD"]},"uk":{"name":"Комбінований дефект окислювального фосфорилювання, повязаний з QRSL1","synonyms":["COXPD, повязане з QRSL1"],"definition":"A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported."},"zh":{"name":"QRSL1基因相关复合氧化磷酸化缺陷","synonyms":["QRSL1-related COXPD"]},"tr":{"name":"QRSL1-ilişkili kombine oksidatif fosforilasyon defekti","synonyms":["QRSL1-ilişkili COXPD"]}},"xrefs":[{"source":"OMIM","code":"618835","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":"0030006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394232","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"QRSL1","name":"glutaminyl-tRNA amidotransferase subunit QRSL1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30237576[PMID]_30283131[PMID]","hgnc":"21020","ensembl":"ENSG00000130348","omim":"617209","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30459337[PMID]"}],"phenotypes":null}