{"orpha":727178,"name":"KCNE2-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["KCNE2-related Isolated congenital LQTS","LQTS type 6"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727178/","orphanet_url":"https://www.orpha.net/en/disease/detail/727178","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à KCNE2","synonyms":["LQTS type 6","LQTS congénital isolé associé à KCNE2"]},"de":{"name":"KCNE2-assoziiertes isoliertes kongenitales Long-QT-Syndrom","synonyms":["Long-QT-Syndrom Typ 6"]},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen KCNE2","synonyms":["SQTL aislado congénito asociado al gen KCNE2","SQTL tipo 6"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a KCNE2","synonyms":["LQTS tipo 6","LQTS congenita isolata correlata a KCNE2"]},"nl":{"name":"KCNE2-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["LQTS type 6","KCNE2-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"KCNE2-related isolated congenital Long QT syndrome"},"pl":{"name":"KCNE2-related isolated congenital long QT syndrome","synonyms":["KCNE2-related Isolated congenital LQTS","LQTS type 6"]},"cs":{"name":"KCNE2-related isolated congenital long QT syndrome","synonyms":["KCNE2-related Isolated congenital LQTS","LQTS type 6"]}},"xrefs":[{"source":"OMIM","code":"613693","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101016,"name":"Isolated congenital long QT syndrome","classifications":[146,156]}],"children":[],"genes":[{"symbol":"KCNE2","name":"potassium voltage-gated channel subfamily E regulatory subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6242","ensembl":"ENSG00000159197","omim":"603796","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}