{"orpha":314637,"name":"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COXPD10","Combined oxidative phosphorylation defect type 10"],"definition":"A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314637/","orphanet_url":"https://www.orpha.net/en/disease/detail/314637","names":{"fr":{"name":"Cardiomyopathie hypertrophique mitochondriale avec acidose lactique par déficit en MTO1","synonyms":["COXPD10","Déficit combiné de la phosphorylation oxydative type 10"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale par déficit en complexes I et IV caractérisée par une acidose lactique, une hypotonie, une cardiomyopathie hypertrophique et un retard global de développement. Les autres caractéristiques cliniques comprennent des difficultés à s'alimenter, un retard de croissance, des crises convulsives, une atrophie optique et une ataxie."},"de":{"name":"Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel","synonyms":["COXPD10","Kombinierten Defekt der oxidativen Phosphorylierung Typ 10","OXPHOS-Defekt, kombinierter, Typ 10"]},"es":{"name":"Miocardiopatía hipertrófica mitocondrial con acidosis láctica por deficiencia de MTO1","synonyms":["COXPD10","Deficiencia combinada de la fosforilación oxidativa tipo 10"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial con deficiencia de los complejos I y IV. Está caracterizada por acidosis láctica, hipotonía, cardiomiopatía hipertrófica y retraso global del desarrollo. Otras características clínicas incluyen dificultades en la alimentación, fallo de medro, convulsiones, atrofia óptica y ataxia."},"it":{"name":"Cardiomiopatia ipertrofica mitocondriale con acidosi lattica da deficit di MTO1","synonyms":["COXPD10","Difetto combinato della fosforilazione ossidativa, tipo 10"],"definition":"La cardiomiopatia ipertrofica mitocondriale con acidosi lattica da deficit di MTO1 è una malattia rara della fosforilazione ossidativa mitocondriale con deficit del complesso I e IV, caratterizzata da acidosi lattica, ipotonia, cardiomiopatia ipertrofica e ritardo dello sviluppo globale. Altri segni clinici comprendono le difficoltà di alimentazione, il ritardo della crescita, le crisi epilettiche, l'atrofia ottica e l'atassia."},"nl":{"name":"Mitochondriale hypertrofische cardiomyopathie met lactaatacidose door MTO1-deficiëntie","synonyms":["COXPD10","Gecombineerde oxidatieve fosforylatiedeficiëntie type 10"],"definition":"Een zeldzame mitochondriale oxidatieve fosforylatiestoornis met deficiëntie van complex I en IV, gekarakteriseerd door lactaatacidose, hypotonie, hypertrofische cardiomyopathie en algehele ontwikkelingsachterstand. Andere klinische kenmerken zijn onder meer voedingsproblemen, groeifalen, insulten, opticusatrofie en ataxie."},"pt":{"name":"Miocardiopatía hipertrófica mitocondrial com acidose láctica por défice de MTO1","synonyms":["COXPD10","Defeito OXPHOS combinado tipo 10","Defeito combinado da fosforilação oxidativa tipo 10","Deficiência de OXPHOS combinado tipo 10"]},"pl":{"name":"Mitochondrialna kardiomiopatia przerostowa z kwasicą mleczanową spowodowana niedoborem MTO1","synonyms":["COXPD10","Złożony defekt fosforylacji oksydacyjnej typu 10"],"definition":"*Mitochondrialna kardiomiopatia przerostowa z kwasicą mleczanową spowodowana niedoborem MTO1 jest rzadkim mitochondrialnym zaburzeniem fosforylacji oksydacyjnej z niedoborem kompleksów I i IV, które charakteryzuje się kwasicą mleczanową, hipotonią, kardiomiopatią przerostową i całościowym opóźnieniem rozwoju. Mogą wystąpić trudności w karmieniu, brak prawidłowego rozwoju, drgawki, zanik nerwu wzrokowego i ataksja."},"cs":{"name":"Mitochondriální hypertrofická kardiomyopatie s laktátovou acidózou, způsobená deficitem MTO1","synonyms":["COXPD10","Kombinovaná porucha oxidativní fosforylace, typ 10"]},"uk":{"name":"Мітохондріальна гіпертрофічна кардіоміопатія з молочнокислим ацидозом, зумовлена дефіцитом MTO1","synonyms":["Комбінований дефект окисного фосфорилювання, тип 10","COXPD10"],"definition":"A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia."},"zh":{"name":"线粒体肥大型心肌病伴MTO1基因缺陷所致乳酸酸中毒","synonyms":["联合氧化磷酸化缺陷10型"],"definition":"一种罕见的线粒体氧化磷酸化障碍，具有复合体I和IV缺陷，特征是乳酸酸中毒、张力减退、肥厚性心肌病和全面发育迟缓。其它临床特征包括进食困难、生长发育迟滞、癫痫发作、视神经萎缩和共济失调。"},"tr":{"name":"MTO1 eksikliğine bağlı laktik asidoz ile seyreden mitokondriyal hipertrofik kardiyomiyopati","synonyms":["COXPD10","Kombine oksidatif fosforilasyon defekti tip 10"]}},"xrefs":[{"source":"OMIM","code":"614702","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749921","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":"MTO1","name":"mitochondrial tRNA translation optimization 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19261","ensembl":"ENSG00000135297","omim":"614667","loci":["6q13"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23929671[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-07","source":"34990597[PMID]_29331171[PMID]_23929671[PMID]","terms":[{"hpo":"HP:0008347","label":"Decreased activity of mitochondrial complex IV","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","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:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Occasional (29-5%)","criteria":null}]}}