{"orpha":1194,"name":"TMEM70-related mitochondrial encephalo-cardio-myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency"],"definition":"Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1194/","orphanet_url":"https://www.orpha.net/en/disease/detail/1194","names":{"fr":{"name":"Encéphalo-cardio-myopathie mitochondriale associée à TMEM70","synonyms":["Encéphalo-cardio-myopathie mitochondriale par déficit en F1Fo ATPase","Encéphalo-cardio-myopathie mitochondriale par déficit isolé en ATP synthase","Encéphalo-cardio-myopathie mitochondriale par déficit isolé en complexe V de la chaîne respiratoire"],"definition":"L'encéphalo-cardio-myopathie mitochondriale due à un déficit en TMEM70 se caractérise par l'apparition néonatale précoce d'une hypotonie, d'une cardiomyopathie hypertrophique et de crises d'apnée quelques heures après la naissance, accompagnées d'une acidose lactose, d'une hyperammoniémie et d'une acidurie 3-méthylglutaconique."},"de":{"name":"TMEM70-abhängige mitochondriale Enzephalokardiomyopathie","synonyms":["Enzephalokardiomyopathie durch isolierten mitochondrialen Atmungskettendefekt im Komplex V","Enzephalokardiomyopathie, mitochondriale, durch F1FO-ATPase-Mangel","Mitochondriale Enzephalokardiomyopathie durch isolierten ATP-Synthase-Mangel"]},"es":{"name":"Encefalo-cardio-miopatía mitocondrial asociada a TMEM70","synonyms":["Encefalo-cardio-miopatía mitocondrial por deficiencia aislada de ATP sintasa","Encefalo-cardio-miopatía mitocondrial por deficiencia aislada del complejo V de la cadena respiratoria mitocondrial","Encefalo-cardio-miopatía mitocondrial por deficiencia de F1Fo ATPasa"],"definition":"Es una enfermedad caracterizada por hipotonía neonatal precoz, miocardiopatía hipertrófica y episodios de apnea pocas horas después del nacimiento, acompañados de acidosis láctica, hiperamonemia y aciduria 3-metilglutacónica."},"it":{"name":"Encefalocardiomiopatia mitocondriale TMEM70-correlato","synonyms":["Encefalocardiomiopatia mitocondriale da deficit del complesso V della catena respiratoria mitocondriale","Encefalocardiomiopatia mitocondriale da deficit di F1Fo ATPasi","Encefalocardiomiopatia mitocondriale da deficit isolato di ATP sintasi"]},"nl":{"name":"TMEM70-gerelateerde mitochondriale encefalocardiomyopathie","synonyms":["Mitochondriale encefalocardiomyopathie door F1Fo ATPase-deficiëntie","Mitochondriale encefalocardiomyopathie door geïsoleerde deficiëntie van ATP-synthase","Mitochondriale encefalocardiomyopathie door geïsoleerde deficiëntie van mitochondriale ademhalingsketen complex V"],"definition":"Mitochondriale encefalocardiomyopathie door TMEM70-mutatie wordt gekenmerkt door neonatale aanvang van hypotonie, hypertrofische cardiomyopathie en episodes van apneu binnen enkele uren na de geboorte, vergezeld van lactaatacidose, hyperammoniëmie en 3-methylglutaconacidurie."},"pt":{"name":"Encefalo-miocardiopatia mitocondrial TMEM70-relacionada","synonyms":["Deficiência de complexo 5 da cadeia respiratória mitocondrial","Encefalo-miocardiopatia mitocondrial por deficiência isolada de ATP sintetase"]},"pl":{"name":"Mitochondrialna encefalo-kardio-miopatia zależna od TMEM70","synonyms":["Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru F1Fo ATP-azy","Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru kompleksu V mitochondrialnego łańcucha oddechowego","Mitochondrialna encefalo-kardio-miopatia z powodu niedoboru syntazy ATP"]},"cs":{"name":"TMEM70-vázaná mitochondriální encefalokardiomyopatie","synonyms":["Mitochondriální encefalokardiomyopatie způsobená deficitem F1Fo ATPázy","Mitochondriální encefalokardiomyopatie způsobená izolovaným deficitem ATP syntázy","Mitochondriální encefalokardiomyopatie způsobená izolovaným deficitem komplexu V mitochondriálního respiračního řetězce"],"definition":"Mitochondriální encefalokardiomyopatie v důsledku mutace TMEM70 se projevuje již u novorozenců hypotonií, hypetrofickou kardiomyopatií (zbytnění srdeční svaloviny) a apnoickými pauzami (vynechání dechu na více než 20 sekund) a to již během několika hodin po porodu. Projevy doprovází laktátová acidóza, hyperamonémie a 3-metylglutakonová acidurie (3-MGA)."},"uk":{"name":"Мітохондріальна енцефало-кардіоміопатія, повязана з TMEM70","synonyms":["Мітохондріальна енцефало-кардіоміопатія внаслідок дефіциту АТФ-ази F1Fo","Мітохондріальна енцефало-кардіоміопатія внаслідок ізольованого дефіциту АТФ-синтази","Мітохондріальна енцефало-кардіоміопатія внаслідок ізольованого дефіциту V комплексу мітохондріального дихального ланцюга"],"definition":"Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria."},"zh":{"name":"TMEM70相关性线粒体脑肌病-心脏病","synonyms":["孤立型ATP合酶缺乏所致线粒体脑心肌病"]},"tr":{"name":"TMEM70--ilişkili mitokondriyal ensefalo-kardiyo-miyopati","synonyms":["İzole mitokondriyal solunum zinciri kompleksi V eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati","F1Fo ATPase eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati","İzole ATP sentaz eksikliğine bağlı mitokondriyal ensefalo-kardiyo-miyopati"]}},"xrefs":[{"source":"OMIM","code":"614052","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"787034237"},{"source":"MONDO","code":"0013546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273660","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TMEM70","name":"transmembrane protein 70","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21147908[PMID]","hgnc":"26050","ensembl":"ENSG00000175606","omim":"612418","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003535","label":"3-Methylglutaconic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}