{"orpha":90647,"name":"Jervell and Lange-Nielsen syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Long QT interval-deafness syndrome","Long QT interval-hearing loss syndrome"],"definition":"A rare severe familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90647/","orphanet_url":"https://www.orpha.net/en/disease/detail/90647","names":{"fr":{"name":"Syndrome de Jervell et Lange-Nielsen","synonyms":["Syndrome de long QT-surdité"],"definition":"Syndrome du QT long familial, rare et sévère, caractérisé par une surdité de perception congénitale, bilatérale et profonde, un intervalle QT long à l'électrocardiogramme avec des tachyarythmies ventriculaires engageant potentiellement le pronostic vital."},"de":{"name":"Jervell-Lange-Nielsen-Syndrom","synonyms":["QT-Intervall, verlängertes - Schwerhörigkeit"],"definition":"Ein schwere Variante des Familiären Long-QT-Syndroms (LQTS), das durch eine angeborene hochgradige beidseitige Schallempfindungsschwerhörigkeit, ein langes QT-Intervall im Elektrokardiogramm und lebensbedrohliche ventrikuläre Tachyarrhythmien gekennzeichnet ist."},"es":{"name":"Síndrome de Jervell y Lange-Nielsen","synonyms":["Síndrome de intervalo QT largo-hipoacusia","Síndrome de intervalo QT largo-sordera"],"definition":"Es una variante del síndrome de QT largo familiar, grave y poco frecuente caracterizada por una pérdida auditiva neurosensorial bilateral profunda congénita, un intervalo QT largo en el electrocardiograma y taquiarritmias ventriculares potencialmente mortales."},"it":{"name":"Sindrome di Jervell e Lange-Nielsen","definition":"La sindrome di Jervell e Lange-Nielsen (JLNS) è una sindrome familiare del QT lungo rara e grave, caratterizzata da sordità neurosensoriale profonda bilaterale congenita, intervallo QT lungo all'elettrocardiogramma e tachiaritmie ventricolari potenzialmente letali."},"nl":{"name":"Syndroom van Jervell en Lange-Nielsen","synonyms":["Lang QT-interval - doofheid-syndroom","Lang QT-interval - gehoorverlies-syndroom"],"definition":"Een zeldzaam, ernstig familiaal lang-QT-syndroom, gekarakteriseerd door congenitaal zeer ernstig bilateraal sensorineuraal gehoorverlies, een lang QT-interval op elektrocardiogram, en levensbedreigende ventriculaire tachyaritmie."},"pt":{"name":"Intervalo QT longo - surdez","definition":"O síndrome de Jervell e de Lange-Nielsen (JLNS) é uma variante autossómica recessiva do síndrome do QT longo familiar (LQTS; ver este termo), caracterizado por surdez neurossensorial bilateral profunda congénita, um intervalo QT longo no eletrocardiograma e taquiarritmias ventriculares."},"pl":{"name":"Zespół Jervella i Lange-Nielsena","synonyms":["Wydłużone interwały QT - głuchota"]},"cs":{"name":"Jervellův a Lange-Nielsenův syndrom","synonyms":["Syndrom zahrnující dlouhý QT interval a hluchotu"]},"uk":{"name":"Синдром Джервелла та Ланге-Нільсена","synonyms":["Синдром подовженого інтервалу QT-глухоти","Синдром подовженого інтервалу QT - втрата слуху"],"definition":"A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias."},"zh":{"name":"Jervell和Lange-Nielsen综合征","synonyms":["长QT间期-听觉丧失综合征"]},"tr":{"name":"Jervell ve Lange-Nielsen sendromu","synonyms":["Uzun QT aralığı-sağırlık sendromu","Uzun QT aralığı-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"220400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612347","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1346057986"},{"source":"MONDO","code":"0002441","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D029593","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022387","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3048","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":768,"name":"Congenital long QT syndrome","classifications":[146,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"KCNE1","name":"potassium voltage-gated channel subfamily E regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301579[PMID]_24093767[PMID]","hgnc":"6240","ensembl":"ENSG00000180509","omim":"176261","loci":["21q22.12"]},{"symbol":"KCNQ1","name":"potassium voltage-gated channel subfamily Q member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301579[PMID]_24093767[PMID]","hgnc":"6294","ensembl":"ENSG00000053918","omim":"607542","loci":["11p15.5-p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-30","source":"20301308[PMID]_30406014[PMID]_30725985[PMID]","terms":[{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011476","label":"Profound sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001664","label":"Torsade de pointes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Occasional (29-5%)","criteria":null}]}}