{"orpha":254864,"name":"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benign COX deficiency","Infantile reversible cytochrome C oxidase deficiency myopathy","Mitochondrial myopathy with reversible COX deficiency","Mitochondrial myopathy with reversible complex IV deficiency","Reversible infantile cytochrome C oxidase deficiency","Reversible infantile respiratory chain deficiency"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254864/","orphanet_url":"https://www.orpha.net/en/disease/detail/254864","names":{"fr":{"name":"Myopathie mitochondriale avec déficit réversible en cytochrome C oxydase","synonyms":["Myopathie mitochondriale avec déficit réversible en COX","Myopathie mitochondriale avec déficit réversible en complexe IV"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale d'origine génétique caractérisée par une myopathie sévère, potentiellement létale, se manifestant pendant la période néonatale ou au début de la petite enfance, suivie d'une amélioration marquée et spontanée de la fonction musculaire au début de l'enfance. Les résultats des analyses biochimiques mettent en évidence une acidose lactique et une diminution transitoire et marquée de l'activité de la chaîne respiratoire."},"de":{"name":"Myopathie, mitochondriale, mit reversiblem Cytochrom-c-Oxidase-Mangel","synonyms":["Atmungsketten-Störung, infantile reversible Form","COX-Mangel, benigner","Cytochrom-c-Oxidase-Mangel des Kindes, reversibel","Myopathie, mitochondriale, mit reversiblem COX-Mangel","Myopathie, mitochondriale, mit reversiblem Komplex IV-Mangel"],"definition":"Eine genetisch bedingte mitochondriale Störung der oxidativen Phosphorylierung, die durch eine potenziell lebensbedrohliche, schwere Myopathie gekennzeichnet ist, die sich in der Neugeborenen- bis frühen Säuglingsperiode manifestiert, gefolgt von einer deutlichen, spontanen Verbesserung der Muskelfunktion in der frühen Kindheit. Zu den damit verbundenen biochemischen Befunden gehören Laktatazidose und eine vorübergehende, deutliche Abnahme der Aktivität der Atmungskette."},"es":{"name":"Miopatía mitocondrial con deficiencia reversible de citocromo C oxidasa","synonyms":["Deficiencia benigna de COX","Deficiencia reversible de citocromo C oxidasa del lactante","Deficiencia reversible de la cadena respiratoria del lactante","Miopatía con deficiencia reversible de citocromo C oxidasa del lactante","Miopatía mitocondrial con deficiencia reversible de COX","Miopatía mitocondrial con deficiencia reversible de complejo IV"],"definition":"Es un trastorno genético y poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por grave miopatía potencialmente mortal que se manifiesta entre el período neonatal y de lactancia temprano, seguido de una importante mejora espontánea de la función muscular anterior en la primera infancia. Los hallazgos bioquímicos asociados incluyen acidosis láctica y un marcado descenso transitorio de la actividad de la cadena respiratoria."},"it":{"name":"Miopatia mitocondriale con deficit reversibile di citocromo C ossidasi","definition":"È una malattia genetica rara della fosforilazione ossidativa mitocondriale, caratterizzata da miopatia grave, potenzialmente letale, che esordisce nel periodo neonatale, seguita da un miglioramento spontaneo marcato della funzione muscolare nella prima infanzia. Le analisi biochimiche evidenziano acidosi lattica e una marcata e transitoria riduzione di attività della catena respiratoria."},"nl":{"name":"Mitochondriale myopathie met omkeerbare cytochroom C-oxidasedeficiëntie","synonyms":["Goedaardige COX-deficiëntie","Infantiele omkeerbare cytochroom C-oxidasedeficiëntiemyopathie","Mitochondriale myopathie met omkeerbare COX-deficiëntie","Mitochondriale myopathie met omkeerbare complex IV-deficiëntie","Omkeerbare infantiele ademhalingsketendeficiëntie","Omkeerbare infantiele cytochroom C-oxidasedeficiëntie"],"definition":"Een zeldzame, genetische, mitochondriale oxidatieve fosforylatiestoornis gekarakteriseerd door een potentieel levensbedreigende, ernstige myopathie die zich manifesteert tijdens de neonatale tot vroeg infantiele periode, gevolgd door opvallende, spontane verbetering van de spierfunctie tegen de vroege kindertijd. Geassocieerde biochemische bevindingen zijn onder meer lactaatacidose en een transiënte, aanzienlijke vermindering van de activiteit van de ademhalingsketen."},"pt":{"name":"Miopatia mitocondrial com deficiência reversível de citocromo C oxidase","synonyms":["Miopatia mitocondrial com deficiência da COX reversível","Miopatia mitocondrial com deficiência do complexo IV reversível"]},"pl":{"name":"Miopatia mitochondrialna z odwracalnym niedoborem oksydazy cytochromu c","synonyms":["Dziecięcy odwracalny Niedobór oksydazy cytochromu c","Łagodny Niedobór COX","Miopatia mitochondrialna z odwracalnym niedoborem COX","Miopatia mitochondrialna z odwracalnym niedoborem kompleksu IV"]},"cs":{"name":"Mitochondriální myopatie s reverzibilním deficitem cytochrom C oxidázy","synonyms":["Benigní COX deficit","Mitochondriální myopatie s reverzibilním deficitem COX","Mitochondriální myopatie s reverzibilním deficitem komplexu IV","Dětská myopatie s reverzibilním deficitem cytochrom C oxidázy","Dětský reverzibilní deficit cytochrom C oxidázy","Dětský reverzibilní deficit respiračního řetězce"]},"uk":{"name":"Мітохондріальна міопатія з оборотним дефіцитом цитохрому С оксидази","synonyms":["Доброякісний дефіцит COX","Інфантильна оборотна міопатія з дефіцитом цитохрому С оксидази","Мітохондріальна міопатія з оборотним дефіцитом комплексу IV","Мітохондріальна міопатія з оборотним дефіцитом COX","Зворотний дефіцит оксидази цитохрому С у дітей","Оборотна дитяча дихальна недостатність дихального ланцюга"],"definition":"A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity."},"zh":{"name":"线粒体肌病伴可逆性细胞色素C氧化酶缺乏症","synonyms":["婴儿可逆性细胞色素C氧化酶缺乏性肌病"],"definition":"一种罕见的遗传性线粒体氧化磷酸化紊乱，其特征是一种潜在威胁生命的严重肌病，发生在新生儿到婴儿期早期，随后在幼年时期肌肉功能明显自发改善。相关的生化表现包括乳酸酸中毒和一过性明显的呼吸链活性下降。"},"tr":{"name":"Tersinir sitokrom C oksidaz eksikliği ile seyreden mitokondriyal miyopati","synonyms":["Selim COX eksikliği","Reversibl infantil solunum zinciri eksikliği","Reversibl infantil sitokrom C oksidaz eksikliği","Reversibl COX eksikliği ile mitokondriyal miyopati","Reversibl kompleks IV eksikliği olan mitokondriyal miyopati","İnfantil geri dönüşümlü sitokrom C oksidaz eksikliği miyopatisi"]}},"xrefs":[{"source":"OMIM","code":"500009","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"723205095"},{"source":"MONDO","code":"0010780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191317","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-TE","name":"mitochondrially encoded tRNA-Glu (GAA/G)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19720722[PMID]","hgnc":"7479","ensembl":"ENSG00000210194","omim":"590025","loci":["mitochondria"]},{"symbol":"TRMU","name":"tRNA mitochondrial 2-thiouridylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21931168[PMID]","hgnc":"25481","ensembl":"ENSG00000100416","omim":"610230","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-18","source":"21194154[PMID]_19720722[PMID]_21931168[PMID]_1325759[PMID]_3025776[PMID]_6312869[PMID]_4273245[PMID]","terms":[{"hpo":"HP:0003688","label":"Cytochrome C oxidase-negative muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004900","label":"Severe lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005946","label":"Ventilator dependence with inability to wean","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Very rare (<4-1%)","criteria":null}]}}