{"orpha":727156,"name":"CACNA1C-related isolated congenital Long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CACNA1C-related isolated congenital LQTS","LQTS type 8"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727156/","orphanet_url":"https://www.orpha.net/en/disease/detail/727156","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à CACNA1C","synonyms":["LQTS type 8","LQTS congénital isolé associé à CACNA1C"]},"de":{"name":"CACNA1C-assoziiertes isoliertes kongenitales Long-QT-Syndrom","synonyms":["Long-QT-Syndrom Typ 8"]},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen CACNA1C","synonyms":["SQTL aislado congénito asociado al gen CACNA1C","SQTL tipo 8"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a CACNA1C","synonyms":["LQTS tipo 8","LQTS congenita isolata correlata a CACNA1C"]},"nl":{"name":"CACNA1C-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["LQTS type 8","CACNA1C-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"CACNA1C-related isolated congenital Long QT syndrome"},"pl":{"name":"CACNA1C-related isolated congenital Long QT syndrome","synonyms":["CACNA1C-related isolated congenital LQTS","LQTS type 8"]},"cs":{"name":"CACNA1C-related isolated congenital Long QT syndrome","synonyms":["CACNA1C-related isolated congenital LQTS","LQTS type 8"]}},"xrefs":[{"source":"OMIM","code":"618447","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":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23677916[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}