{"orpha":324321,"name":"Sinoatrial node dysfunction and deafness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sinoatrial node dysfunction and hearing loss"],"definition":"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324321/","orphanet_url":"https://www.orpha.net/en/disease/detail/324321","names":{"fr":{"name":"Dysfonction sinusale et surdité","definition":"Maladie génétique rare caractérisée par une surdité congénitale sévère à profonde sans signe de dysfonction vestibulaire, associée à une dysfonction du noeud sinusal, qui se manifeste par une bradycardie prononcée, une grande variabilité du rythme cardiaque au repos, ainsi que des syncopes épisodiques pouvant être déclenchées par un effort physique important et un stress."},"de":{"name":"Sinusknoten-Dysfunktion und Schwerhörigkeit","synonyms":["SANDD-Syndrom"]},"es":{"name":"Disfunción del nodo sinusal y sordera","synonyms":["Disfunción del nodo sinusal e hipoacusia"],"definition":"Es una enfermedad genética poco frecuente, caracterizada por sordera congénita de grave a profunda sin evidencia de disfunción vestibular, junto con disfunción del nódulo sinoauricular con bradicardia acentuada y una mayor variabilidad de la frecuencia cardíaca en reposo, así como síncopes episódicos que pueden estar desencadenados por un aumento de actividad física y estrés."},"it":{"name":"Disfunzione del nodo senoatriale e sordità","definition":"La disfunzione del nodo senoatriale associata a sordità è una malattia genetica rara, caratterizzata da sordità congenita grave o profonda, in assenza di evidenti disfunzioni vestibolari, associata a disfunzione del nodo senoatriale con marcata bradicardia e variazioni del ritmo cardiaco a riposo, e ad episodi di sincope che possono essere scatenati dall'attività fisica e dallo stress."},"nl":{"name":"Sinusknoopdisfunctie en doofheid","synonyms":["Sinusknoopdisfunctie en gehoorverlies"],"definition":"Sinusknoopdisfunctie en doofheid is een zeldzame, genetische ziekte die wordt gekarakteriseerd door congenitale, ernstige tot totale doofheid zonder aanwijzing van vestibulaire disfunctie, geassocieerd met sinusknoopdisfunctie met aanzienlijke bradycardie en verhoogde variabiliteit van de hartslag in rust en episodische syncope die kan uitgelokt worden door verhoogde fysieke activiteit en stress."},"pt":{"name":"Disfunção do nódulo sino-auricular e surdez"},"pl":{"name":"Dysfunkcja węzła zatokowo-przedsionkowego i głuchota","synonyms":["Sinoatrial node dysfunction and hearing loss"],"definition":"*Dysfunkcja węzła zatokowo-przedsionkowego i głuchota to rzadka choroba genetyczna, która charakteryzuje się wrodzoną ciężką lub głęboką głuchotą bez objawów dysfunkcji narządu przedsionkowego, z towarzyszącą dysfunkcją węzła zatokowo-przedsionkowego z wyraźną bradykardią i zwiększoną zmiennością częstości akcji serca w spoczynku oraz epizodycznymi omdleniami, które mogą być wywołane przez wzmożoną aktywność fizyczną i stres."},"cs":{"name":"Dysfunkce sinoatriálního uzlu a hluchota","synonyms":["Sinoatrial node dysfunction and hearing loss"]},"uk":{"name":"Дисфункція синоатріального вузла та глухота","synonyms":["Дисфункція синоатріального вузла та втрата слуху"],"definition":"Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress."},"zh":{"name":"窦房结功能障碍与耳聋","synonyms":["窦房结功能障碍与听力丧失"],"definition":"窦房结功能障碍伴耳聋是一种罕见的遗传病，其特征是先天性重度至极重度耳聋，不伴前庭功能障碍的相关表现，与窦房结功能障碍相关，伴有明显的心动过缓和静止时心率变异性增加，以及可能由体力活动增强和压力触发的发作性晕厥。"},"tr":{"name":"Sinoatriyal düğüm disfonksiyonu ve sağırlık","synonyms":["Sinoatriyal düğüm disfonksiyonu ve işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"614896","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H91.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"BC80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554018","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]}],"children":[],"genes":[{"symbol":"CACNA1D","name":"calcium voltage-gated channel subunit alpha1 D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21131953[PMID]","hgnc":"1391","ensembl":"ENSG00000157388","omim":"114206","loci":["3p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"21131953[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}