{"orpha":1349,"name":"Mitochondrial DNA-related cardiomyopathy and hearing loss","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Maternally-inherited cardiomyopathy and deafness","mtDNA-related cardiomyopathy and deafness","mtDNA-related cardiomyopathy and hearing loss","tRNA-LYS-related cardiomyopathy-hearing loss syndrome"],"definition":"A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1349/","orphanet_url":"https://www.orpha.net/en/disease/detail/1349","names":{"fr":{"name":"Cardiomyopathie-surdité dues à une mutation de l'ADN mitochondrial","synonyms":["Cardiomyopathie-surdité de transmission maternelle","Cardiomyopathie-surdité dues à une mutation de l'ADNmt","Syndrome de cardiomyopathie-surdité dû à des mutations du tRNA-LYS"],"definition":"Maladie mitochondriale rare à expression clinique hétérogène, caractérisée par l'association d'une surdité neurosensorielle progressive et d'une cardiomyopathie hypertrophique et, dans la majorité des cas, des symptômes d'encéphalomyopathie tels qu'une ataxie, des troubles de l'élocution, une opthalmoparésie externe progressive (OEP), une faiblesse musculaire, des myalgies et une intolérance à l'effort."},"de":{"name":"Mitochondriale DNA-assoziierte Kardiomyopathie mit Hörverlust","synonyms":["Maternal vererbte Kardiomyopathie mit Hörverlust","mtDNA-assoziierte Kardiomyopathie mit Hörverlust","tRNA-LYS-assoziiertes Kardiomyopathie-Hörverlust-Syndrom"],"definition":"Eine seltene mitochondriale Erkrankung, die sich durch ein heterogenes klinisches Erscheinungsbild auszeichnet, das durch die Kombination von progressivem sensorineuralem Hörverlust mit hypertropher Kardiomyopathie und in den meisten Fällen Enzephalomyopathie-Symptomen wie Ataxie, verwaschene Sprache, progressive externe Ophthalmoparese (PEO), Muskelschwäche, Myalgie und Belastungsintoleranz gekennzeichnet ist."},"es":{"name":"Miocardiopatía e hipoacusia asociada al ADN mitocondrial","synonyms":["Miocardiopatía e hipoacusia asociada al ADNmt","Miocardiopatía y sordera asociada al ADNmt","Miocardiopatía y sordera de herencia materna","Síndrome de miocardiopatía-hipoacusia asociada a ARNt-LYS"],"definition":"Es una enfermedad mitocondrial que tiene un cuadro clínico heterogéneo caracterizado por la asociación de hipoacusia neurosensorial progresiva con miocardiopatía hipertrófica y, en la mayoría de los casos, síntomas de encefalomiopatía tales como ataxia, dificultades del habla, oftalmoplegia externa progresiva (PEO), debilidad muscular, mialgia e intolerancia al ejercicio físico."},"it":{"name":"Cardiomiopatia - perdita di udito, a trasmissione materna","synonyms":["Cardiomiopatia - perdita dell'udito, tRNA-LYS-correlate","Cardiomiopatia - sordità, a trasmissione materna"],"definition":"La sordità-cardiomiopatia a trasmissione materna è una malattia mitocondriale, descritta finora in due famiglie non correlate, che presenta un quadro clinico eterogeneo, caratterizzato dall'associazione tra la sordità neurosensoriale progressiva e la cardiomiopatia ipertrofica e, nella maggior parte dei casi, sintomi di encefalomiopatia, che comprendono l'atassia, il linguaggio farfugliato, l'oftalmoparesi esterna progressiva (PEO), la debolezza muscolare, la mialgia e l'intolleranza all'esercizio fisico."},"nl":{"name":"Mitochondriaal DNA-gerelateerde cardiomyopathie en gehoorverlies","synonyms":["Maternaal overgeërfde cardiomyopathie en doofheid","mtDNA-gerelateerde cardiomyopathie en gehoorverlies","tRNA-LYS-gerelateerde cardiomyopathie - gehoorverlies-syndroom"],"definition":"Een zeldzame mitochondriale aandoening met een heterogene klinische presentatie, gekenmerkt door de associatie van progressief sensorineuraal gehoorverlies met hypertrofische cardiomyopathie en, in de meerderheid van de gevallen, symptomen van encefalomyopathie zoals ataxie, onduidelijke spraak, progressieve externe oftalmoparese (PEO), spierzwakte, myalgie, en inspanningsintolerantie."},"pt":{"name":"Miocardiopatia e perda auditiva ADN mitocondrial-relacionadas","synonyms":["Miocardiopatia e surdez ADN mitocondrial-relacionadas","Miocardiopatia-surdez por mutação no gene do tARN da lys"]},"pl":{"name":"Dziedziczona w linii matczynej kardiomiopatia i utrata słuchu","synonyms":["Kardiomiopatia związana z tRNA-LYS - utrata słuchu"],"definition":"Rzadka choroba mitochondrialna o niejednorodnym obrazie klinicznym, która charakteryzuje się współwystępowaniem postępującego niedosłuchu zmysłowo-nerwowego z kardiomiopatią przerostową i, w większości przypadków, objawami encefalomiopatii, takimi jak ataksja, niewyraźna mowa, postępującym zewnętrznym niedowładem gałki ocznej, osłabieniem mięśni, bólem mięśni i nietolerancją wysiłku."},"cs":{"name":"Maternálně dědičná kardiomyopatie a ztráta sluchu","synonyms":["Syndrom zahrnující tRNA-LYS-vázanou kardiomyopatii a ztrátu sluchu","Maternálně dědičná kardiomyopatie a hluchota"]},"uk":{"name":"Кардіоміопатія, повязана з мітохондріальною ДНК, та втрата слуху","synonyms":["Успадкована по материнській лінії кардіоміопатія та глухота","Кардіоміопатія та глухота, повязані з мтДНК","Кардіоміопатія, повязана з мтДНК, та втрата слуху","tRNA-LYS-асоційована кардіоміопатія - синдром втрати слуху"],"definition":"A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance."},"zh":{"name":"线粒体DNA相关性心肌病伴听力损失","synonyms":["tRNA-溶酶体相关心肌病-听力丧失综合征"]},"tr":{"name":"Mitokondriyal DNA--ilişkili kardiyomiyopati ve işitme kaybı","synonyms":["mtDNA-ilişkili kardiyomiyopati ve sağırlık","mtDNA-ilişkili kardiyomiyopati ve işitme kaybı","Maternal-geçişli kardiyomiyopati ve sağırlık","tRNA-LYS-ilişkili kardiyomiyopati-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217587,"name":"Mitochondrial disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":254776,"name":"Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MT-TK","name":"mitochondrially encoded tRNA-Lys (AAA/G)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8651277[PMID]","hgnc":"7489","ensembl":"ENSG00000210156","omim":"590060","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8651277[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8651277[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-08","source":"8651277[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009126","label":"Increased adipose tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}