{"orpha":254892,"name":"Autosomal dominant progressive external ophthalmoplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["adPEO"],"definition":"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254892/","orphanet_url":"https://www.orpha.net/en/disease/detail/254892","names":{"fr":{"name":"Ophtalmoplégie externe progressive autosomique dominante","synonyms":["OEPad","adPEO"],"definition":"Maladie neuro-ophtalmologique génétique rare caractérisée par une faiblesse progressive des muscles oculaires externes, entraînant un ptosis bilatéral et une ophtalmoparésie symétrique diffuse. Les autres signes peuvent inclure une faiblesse musculaire squelettique, des cataractes, une perte auditive, une neuropathie axonale sensorielle, une ataxie, un parkinsonisme, une cardiomyopathie, un hypogonadisme et une dépression. Il s'agit d'une forme généralement moins grave que la forme autosomique récessive."},"de":{"name":"Ophthalmoplegie, externe progressive, autosomal-dominante","synonyms":["adPEO"],"definition":"Eine genetisch bedingte neuro-ophthalmologische Erkrankung, die durch eine fortschreitende Schwäche der äußeren Augenmuskeln gekennzeichnet ist und zu einer beidseitigen Ptose und einer diffusen, symmetrischen Ophthalmoparese führt. Sie kann mit Skelettmuskelschwäche, Katarakte, Hörverlust, sensorische axonale Neuropathie, Ataxie, Parkinsonismus, Kardiomyopathie, Hypogonadismus und Depression einhergehen. Sie ist in der Regel weniger schwerwiegend als die autosomal-rezessive Form."},"es":{"name":"Oftalmoplejía externa progresiva autosómica dominante","synonyms":["adPEO"],"definition":"Es una enfermedad neuro-oftalmológica, de origen genético y poco frecuente, caracterizada por debilidad progresiva de los músculos extraoculares que resulta en ptosis bilateral y en oftalmoparesia simétrica difusa. Otros signos adicionales pueden incluir debilidad musculoesquelética, cataratas, pérdida auditiva, neuropatía axonal sensitiva, ataxia, parkinsonismo, miocardiopatía, hipogonadismo y depresión. Suele ser menos grave que la forma autosómica recesiva."},"it":{"name":"Oftalmoplegia esterna progressiva autosomica dominante","synonyms":["adPEO"],"definition":"Si tratta di una malattia neuro-oftalmica genetica rara, caratterizzata da debolezza progressiva dei muscoli esterni dell'occhio, che esita nella ptosi bilaterale e nell'oftalmoparesi simmetrica diffusa. Può associarsi a debolezza dei muscoli scheletrici, cataratta, sordità, neuropatia assonale sensitiva, atassia, parkinsonismo, cardiomiopatia, ipogonadismo e depressione. Di solito è meno grave della forma autosomica recessiva."},"nl":{"name":"Autosomaal dominante progressieve externe oftalmoplegie","synonyms":["adPEO"],"definition":"Een zeldzame, genetische, neuro-oftalmologische ziekte, gekarakteriseerd door progressieve zwakte van de uitwendige oogspieren die leidt tot bilaterale ptose en diffuse, symmetrische oftalmoparese. Mogelijke bijkomende tekenen zijn onder meer zwakte van skeletspieren, cataracten, gehoorverlies, sensorische axonale neuropathie, ataxie, parkinsonisme, cardiomyopathie, hypogonadisme, en depressie. Het is meestal minder ernstig dan de autosomaal recessieve vorm."},"pt":{"name":"Oftalmoplegia externa progressiva autossómica dominante","synonyms":["adPEO"]},"pl":{"name":"Autosomalna dominująca prostępująca oftalmoplegia zewnętrzna","synonyms":["adPEO"]},"cs":{"name":"Autozomálně dominantní progresivní externí oftalmoplegie","synonyms":["adPEO"]},"uk":{"name":"Аутосомно-домінантна прогресуюча зовнішня офтальмоплегія","synonyms":["adPEO"],"definition":"A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form."},"zh":{"name":"常染色体显性遗传性进行性眼外肌麻痹","synonyms":["adPEO"],"definition":"一种罕见的遗传性神经眼科疾病，特征是眼外肌进行性无力，导致双侧上睑下垂和弥漫性对称性眼瘫。其他症状可能包括骨骼肌无力、白内障、听力丧失、感觉轴突神经病、共济失调、帕金森氏症、心肌病、性腺机能减退和抑郁。它通常没有常染色体隐性遗传型那么严重。"},"tr":{"name":"Otozomal dominant ilerleyici eksternal oftalmopleji","synonyms":["adPEO"]}},"xrefs":[{"source":"OMIM","code":"157640","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609283","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609286","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610131","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613077","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"739314501"},{"source":"MONDO","code":"0008003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254807,"name":"Multiple mitochondrial DNA deletion syndrome","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":520820,"name":"Progressive external ophthalmoplegia","classifications":[156,189]}],"children":[],"genes":[{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11431686[PMID]_20301791[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]},{"symbol":"POLG2","name":"DNA polymerase gamma 2, accessory subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21555342[PMID]","hgnc":"9180","ensembl":"ENSG00000256525","omim":"604983","loci":["17q23.3"]},{"symbol":"RRM2B","name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21646632[PMID]_19664747[PMID]","hgnc":"17296","ensembl":"ENSG00000048392","omim":"604712","loci":["8q22.3"]},{"symbol":"SLC25A4","name":"solute carrier family 25 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21519523[PMID]_10926541[PMID]","hgnc":"10990","ensembl":"ENSG00000151729","omim":"103220","loci":["4q35.1"]},{"symbol":"TWNK","name":"twinkle mtDNA helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21519523[PMID]_11431692[PMID]","hgnc":"1160","ensembl":"ENSG00000107815","omim":"606075","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-04","source":"15258213[PMID]_24091712[PMID]_24076137[PMID]_19664747[PMID]_21555342[PMID]_16685652[PMID]_20479361[PMID]_10364542[PMID]_7365499[PMID]_1978558[PMID]","terms":[{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012103","label":"Abnormality of the mitochondrion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003688","label":"Cytochrome C oxidase-negative muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}