{"orpha":727203,"name":"SCN5A-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LQTS type 3","SCN5A-related isolated congenital LQTS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727203/","orphanet_url":"https://www.orpha.net/en/disease/detail/727203","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à SCN5A","synonyms":["LQTS type 3","LQTS congénital isolé associé à SCN5A"]},"de":{"name":"SCN5A-assoziiertes isoliertes kongenitales Long-QT-Syndrom","synonyms":["Long-QT-Syndrom Typ 3","SCN5A-assoziiertes isoliertes kongenitales LQTS"]},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen SCN5A","synonyms":["SQTL tipo 3","SQTL aislado congénito asociado al gen SCN5A"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a SCN5A","synonyms":["LQTS tipo 3","LQTS congenita isolata correlata a SCN5A"]},"nl":{"name":"SCN5A-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["LQTS type 3","SCN5A-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"SCN5A-related isolated congenital Long QT syndrome"},"pl":{"name":"SCN5A-related isolated congenital long QT syndrome","synonyms":["LQTS type 3","SCN5A-related isolated congenital LQTS"]},"cs":{"name":"SCN5A-related isolated congenital long QT syndrome","synonyms":["LQTS type 3","SCN5A-related isolated congenital LQTS"]}},"xrefs":[{"source":"OMIM","code":"603830","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":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}