{"orpha":663,"name":"Mitochondrial DNA-related progressive external ophthalmoplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maternally-inherited CPEO","Maternally-inherited chronic progressive external ophthalmoplegia","mtDNA-related progressive external ophthalmoplegia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-663/","orphanet_url":"https://www.orpha.net/en/disease/detail/663","names":{"fr":{"name":"Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial","synonyms":["CPEO de transmission maternelle","Ophtalmoplégie externe progressive chronique de transmission maternelle","Ophtalmoplégie externe progressive due à une mutation de l'ADNmt"]},"de":{"name":"Ophthalmoplegie, chronische externe progressive, maternal-vererbte","synonyms":["CPEO, maternal-vererbte"]},"es":{"name":"Oftalmoplejía externa progresiva asociada al ADN mitocondrial","synonyms":["CPEO de herencia materna","Oftalmoplejía externa progresiva asociada al ADNmt","Oftalmoplejía externa progresiva crónica de herencia materna"]},"it":{"name":"Oftalmoplegia esterna progressiva a trasmissione materna","synonyms":["CPEO a trasmissione materna","Oftalmoplegia esterna progressiva cronica a trasmissione materna"]},"nl":{"name":"Mitochondriaal DNA-gerelateerde progressieve externe oftalmoplegie","synonyms":["Maternaal overgeërfde CPEO","Maternaal overgeërfde chronische progressieve externe oftalmoplegie","mtDNA-gerelateerde progressieve externe oftalmoplegie"]},"pt":{"name":"Oftalmoplegia externa progressiva ADN mitocondrial-relacionada","synonyms":["CPEO com hereditariedade materna","Oftalmoplegia externa progressiva ADNmt-relacionada","Oftalmoplegia externa progressiva crónica com hereditariedade materna"]},"pl":{"name":"Postępująca oftalmoplegia zewnętrzna dziedziczona po matce","synonyms":["CPEO dziedziczona po matce","Postępująca oftalmoplegia zewnętrzna dziedziczona po matce"]},"cs":{"name":"Progresivní externí oftalmoplegie zděděná po matce","synonyms":["CPEO zděděná po matce","Chronická progresivní externí oftalmoplegie zděděná po matce"]},"uk":{"name":"Прогресуюча зовнішня офтальмоплегія, повязана з мітохондріальною ДНК","synonyms":["Успадкована від матері хронічна прогресуюча зовнішня офтальмоплегія","CPEO, успадкований по матері","Повязана з мтДНК прогресуюча зовнішня офтальмоплегія"]},"zh":{"name":"线粒体DNA相关进行性眼外肌麻痹","synonyms":["母体遗传慢性进行性外眼肌麻痹"],"definition":"关于此病的Orphanet摘要正在编制中。可以从本页右侧的“附加信息”菜单访问与该疾病相关的其他数据。"},"tr":{"name":"Mitokondriyal DNA-ilişkili ilerleyici eksternal oftalmopleji","synonyms":["Maternal-geçişli PEO","mtDNA-ilişkili ilerleyici eksternal oftalmopleji","Maternal-geçişli kronik ilerleyici eksternal oftalmopleji"]}},"xrefs":[{"source":"ICD-10","code":"H49.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9C82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019016","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162674","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":520820,"name":"Progressive external ophthalmoplegia","classifications":[156,189]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"MT-TL1","name":"mitochondrially encoded tRNA-Leu (UUA/G) 1","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]},{"symbol":"MT-TL2","name":"mitochondrially encoded tRNA-Leu (CUN) 2","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23696415[PMID]","hgnc":"7491","ensembl":"ENSG00000210191","omim":"590055","loci":["mitochondria"]},{"symbol":"MT-TN","name":"mitochondrially encoded tRNA-Asn (AAU/C)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23696415[PMID]","hgnc":"7493","ensembl":"ENSG00000210135","omim":"590010","loci":["mitochondria"]},{"symbol":"MT-TS1","name":"mitochondrially encoded tRNA-Ser (UCN) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23696415[PMID]","hgnc":"7497","ensembl":"ENSG00000210151","omim":"590080","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance","Not applicable"],"onset":["Adolescent","Adult"],"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":"2019-01-21","source":"22189266[PMID]","terms":[{"hpo":"HP:0003800","label":"Muscle abnormality related to mitochondrial dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008316","label":"Abnormal mitochondria in muscle tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Excluded (0%)","criteria":null}]}}