{"orpha":228012,"name":"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome","Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome","Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"],"definition":"A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228012/","orphanet_url":"https://www.orpha.net/en/disease/detail/228012","names":{"fr":{"name":"Syndrome de surdité neurosensorielle progressive-cardiomyopathie hypertrophique","synonyms":["Syndrome de surdité de perception progressive-cardiomyopathie hypertrophique"],"definition":"Trouble rare caractérisé par une surdité neurosensorielle progressive, autosomique dominante, d'apparition tardive, un intervalle QT prolongé et une légère hypertrophie cardiaque."},"de":{"name":"Progressiver sensorineuraler Hörverlust-hypertrophe Kardiomyopathie-Syndrom","synonyms":["Syndrom der progressiven neurosensorischen Schwerhörigkeit mit hypertropher Kardiomyopathie"],"definition":"Eine seltene Störung, die durch einen progressiven, spät einsetzenden, autosomal-dominanten sensorineuralen Hörverlust, eine Verlängerung des QT-Intervalls und eine leichte Herzhypertrophie gekennzeichnet ist."},"es":{"name":"Síndrome de hipoacusia neurosensorial progresiva-miocardiopatía hipertrófica","synonyms":["Síndrome de hipoacusia neurosensorial progresiva-cardiomiopatía hipertrófica","Síndrome de sordera neurosensorial progresiva-cardiomiopatía hipertrófica"],"definition":"Es un trastorno poco frecuente caracterizado por hipoacusia neurosensorial autosómica dominante, progresiva, de aparición tardía, con prolongación del intervalo QT e hipertrofia cardiaca leve."},"it":{"name":"Sordità neurosensoriale progressiva - cardiomiopatia ipertrofica","synonyms":["Perdita dell'udito neurosensoriale progressiva - cardiomiopatia ipertrofica","Sordità sensorineurale progressiva - cardiomiopatia ipertrofica"],"definition":"La sordità neurosensoriale progressiva con cardiomiopatia ipertrofica è una malattia estremamente rara, descritta finora in una sola famiglia, caratterizzata da sordità autosomica dominante progressiva ad esordio tardivo, allungamento dell'intervallo QT e lieve ipertrofia cardiaca."},"nl":{"name":"Progressief sensorineuraal gehoorverlies - hypertrofische cardiomyopathie-syndroom","synonyms":["Progressief neurosensorisch gehoorverlies - hypertrofische cardiomyopathie-syndroom","Progressieve neurosensorische doofheid - hypertrofische cardiomyopathie-syndroom","Progressieve sensorineurale doofheid - hypertrofische cardiomyopathie-syndroom"],"definition":"Een zeldzame aandoening, gekenmerkt door progressief, laat optredend, autosomaal dominant sensorineuraal gehoorverlies, verlengd QT-interval, en milde hypertrofie van hart."},"pt":{"name":"Síndrome de perda auditiva neurossensorial progressiva-miocardiopatia hipertrófica","synonyms":["Surdez neurosensorial progressiva-miocardiopatia hipertrófica"]},"pl":{"name":"Postępująca zmysłowo-nerwowa utrata słuchu - kardiomiopatia przerostowa","synonyms":["Postępująca głuchota nerwowo-zmysłowa - kardiomiopatia przerostowa","Postępująca głuchota zmysłowo-nerwowa - kardiomiopatia przerostowa","Postępująca nerwowo-zmysłowa utrata słuchu - kardiomiopatia przerostowa"]},"cs":{"name":"Syndrom zahrnující progresivní sensoneurální ztrátu sluchu a hypertrofickou kardiomyopatii","synonyms":["Syndrom zahrnující progresivní neurosenzorickou hluchotu a hypertrofickou kardiomyopatii","Syndrom zahrnující progresivní neurosenzorickou ztrátu sluchu a hypertrofickou kardiomyopatii","Syndrom zahrnující progresivní sensoneurální hluchotu a hypertrofickou kardiomyopatii"]},"uk":{"name":"Синдром прогресуючої сенсоневральної приглухуватості-гіпертрофічної кардіоміопатії","synonyms":["Синдром прогресуючої нейросенсорної глухоти-гіпертрофічної кардіоміопатії","Синдром прогресуючої нейросенсорної приглухуватості-гіпертрофічної кардіоміопатії","Синдром прогресуючої сенсоневральної глухоти-гіпертрофічної кардіоміопатії"],"definition":"A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy."},"zh":{"name":"进行性感音神经性听觉丧失-肥厚型心肌病综合征","synonyms":["进行性感音神经性听觉丧失-肥厚型心肌病综合征"],"definition":"渐进性耳聋-肥厚型心肌病综合征是极为罕见的发生在一个家族中的疾病，其特征是进行性、迟发性、常染色体显性遗传的感音神经性听觉丧失，QT间期延长和轻度心肌肥大。"},"tr":{"name":"İlerleyici sensörinöral işitme kaybı-hipertrofik kardiyomiyopati sendromu","synonyms":["İlerleyici nörosensöriyel sağırlık-hipertrofik kardiyomiyopati sendromu","İlerleyici sensörinöral sağırlık-hipertrofik kardiyomiyopati sendromu","İlerleyici nörosensöriyel işitme kaybı-hipertrofik kardiyomiyopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"606346","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"AB51.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304831","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"MYO6","name":"myosin VI","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15060111[PMID]","hgnc":"7605","ensembl":"ENSG00000196586","omim":"600970","loci":["6q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"18212818[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18212818[PMID]"}],"phenotypes":null}