{"orpha":727141,"name":"KCNQ1-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LQTS type 1","KCNQ1-related Isolated congenital LQTS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727141/","orphanet_url":"https://www.orpha.net/en/disease/detail/727141","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à KCNQ1","synonyms":["LQTS type 1","LQTS congénital isolé associé à KCNQ1"]},"de":{"name":"KCNQ1-assoziiertes isoliertes kongenitales Long-QT-Syndrom","synonyms":["Long-QT-Syndrom Typ 1"]},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen KCNQ1","synonyms":["SQTL aislado congénito asociado al gen KCNQ1","SQTL tipo 1"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a KCNQ1","synonyms":["LQTS tipo 1","LQTS congenita isolata correlata a KCNQ1"]},"nl":{"name":"KCNQ1-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["LQTS type 1","KCNQ1-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"KCNQ1-related isolated congenital Long QT syndrome"},"pl":{"name":"KCNQ1-related isolated congenital long QT syndrome","synonyms":["LQTS type 1","KCNQ1-related Isolated congenital LQTS"]},"cs":{"name":"KCNQ1-related isolated congenital long QT syndrome","synonyms":["LQTS type 1","KCNQ1-related Isolated congenital LQTS"]}},"xrefs":[{"source":"OMIM","code":"192500","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":"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":"20301308[PMID]_24093767[PMID]","hgnc":"6294","ensembl":"ENSG00000053918","omim":"607542","loci":["11p15.5-p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}