{"orpha":217622,"name":"Sensorineural deafness with dilated cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurosensory deafness with dilated cardiomyopathy","Neurosensory hearing loss with dilated cardiomyopathy","Sensorineural hearing loss with dilated cardiomyopathy"],"definition":"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217622/","orphanet_url":"https://www.orpha.net/en/disease/detail/217622","names":{"fr":{"name":"Surdité neurosensorielle avec cardiomyopathie dilatée","synonyms":["Surdité de perception avec cardiomyopathie dilatée"],"definition":"La surdité neurosensorielle avec cardiomyopathie dilatée est un syndrome autosomique dominant extrêmement rare, décrit chez deux familles à ce jour, et caractérisé par une surdité neurosensorielle modérée à sévère se manifestant au cours de l'enfance, associée à une cardiomyopathie dilatée d'apparition tardive qui progresse généralement en insuffisance cardiaque."},"de":{"name":"Sensorineurale Schwerhörigkeit mit dilatativer Kardiomyopathie","synonyms":["Innenohrschwerhörigkeit mit dilatativer Kardiomyopathie","Neurosensorischer Hörverlust mit dilatativer Kardiomyopathie"],"definition":"Schallempfindungs-Schwerhörigkeit mit dilatativer Kardiomyopathie , ein extem seltenes, autosomal-dominant vererbtes Syndrom, wurde bisher in nur 2 Familien beschrieben. Kennzeichnend sind: Moderate bis schwere, im Kindesalter beginnende Schallempfindungs-Schwerhörigkeit und spät beginnende dilatative Kardiomyopathie, die in der Regel bis zur Herzinsuffizienz fortschreitet."},"es":{"name":"Sordera neurosensorial con miocardiopatía dilatada","synonyms":["Hipoacusia neurosensorial con miocardiopatía dilatada","Sordera neurosensorial con cardiomiopatía dilatada"],"definition":"La sordera neurosensorial con miocardiopatía dilatada es un trastorno autosómico dominante extremadamente raro descrito hasta la fecha en dos familias, y caracterizado por la moderada-severa pérdida de la audición neurosensorial, que se manifiesta durante la niñez y se asocia con una miocardiopatía dilatada de aparición tardía, y que generalmente progresa a insuficiencia cardiaca."},"it":{"name":"Sordità neurosensoriale con cardiomiopatia dilatativa","synonyms":["Perdita dell'udito neurosensoriale con cardiomiopatia dilatativa"]},"nl":{"name":"Sensorineurale doofheid met gedilateerde cardiomyopathie","synonyms":["Neurosensorisch gehoorverlies met gedilateerde cardiomyopathie","Neurosensorische doofheid met gedilateerde cardiomyopathie","Sensorineuraal gehoorverlies met gedilateerde cardiomyopathie"],"definition":"Sensorineurale doofheid met gedilateerde cardiomyopathie is een uiterst zeldzaam autosomaal dominant syndroom, tot op heden in twee families beschreven, en wordt gekenmerkt door een matig tot ernstig perceptief gehoorverlies dat zich manifesteert tijdens de kindertijd, en is geassocieerd met laat-beginnende gedilateerde cardiomyopathie die over het algemeen ontwikkelt tot hartfalen."},"pt":{"name":"Surdez neurossensorial com miocardiopatia dilatada"},"pl":{"name":"Głuchota zmysłowo-nerwowa z kardiomiopatią rozstrzeniową","synonyms":["Głuchota nerwowo-zmysłowa z kardiomiopatią rozstrzeniową","Nerwowo-zmysłowa utrata słuchu z kardiomiopatią rozstrzeniową","Zmysłowo-nerwowa utrata słuchu z kardiomiopatią rozstrzeniową"]},"cs":{"name":"Senzorineurální hluchota s dilatační kardiomyopatií","synonyms":["Neurosenzorická hluchota s dilatační kardiomyopatií","Neurosenzorická ztráta sluchu s dilatační kardiomyopatií","Senzorineurální ztráta sluchu s dilatační kardiomyopatií"]},"uk":{"name":"Сенсоневральна глухота з дилатаційною кардіоміопатією","synonyms":["Нейросенсорна глухота при дилатаційній кардіоміопатії","Нейросенсорна втрата слуху при дилатаційній кардіоміопатії","Сенсоневральна приглухуватість при дилатаційній кардіоміопатії"],"definition":"Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure."},"zh":{"name":"感音神经性聋伴扩张型心肌病","synonyms":["感音神经性聋伴扩张型心肌病"],"definition":"扩张型心肌病伴感音神经性耳聋是一种极为罕见的常染色体显性遗传综合征，其特征是儿童期出现中度至重度感音神经性听力损失，并伴有迟发性扩张型心肌病，一般可进展成心力衰竭。"},"tr":{"name":"Dilate kardiyomiyopatili sensörinöral sağırlık","synonyms":["Dilate kardiyomiyopati ile seyreden nörosensoriyel sağırlık","Dilate kardiyomiyopati ile seyreden nöro-duyusal işitme kaybı","Dilate kardiyomiyopati ile seyreden sensörinöral işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"605362","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510220","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"EYA4","name":"EYA transcriptional coactivator and phosphatase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15735644[PMID]","hgnc":"3522","ensembl":"ENSG00000112319","omim":"603550","loci":["6q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10769282[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10769282[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-18","source":"10769282[PMID]","terms":[{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very frequent (99-80%)","criteria":null}]}}