{"orpha":727163,"name":"TRDN-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["TRDN-related isolated congenital LQTS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727163/","orphanet_url":"https://www.orpha.net/en/disease/detail/727163","names":{"fr":{"name":"Syndrome du QT long congénital isolé associé à TRDN","synonyms":["LQTS congénital isolé associé à TRDN"]},"de":{"name":"TRDN-assoziiertes isoliertes kongenitales Long-QT-Syndrom"},"es":{"name":"Síndrome de QT largo congénito aislado asociado al gen TRDN","synonyms":["SQTL aislado asociado al gen TRDN"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata a TRDN","synonyms":["LQTS congenita isolata correlata a TRDN"]},"nl":{"name":"TRDN-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["TRDN-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"TRDN-related isolated congenital Long QT syndrome"},"pl":{"name":"TRDN-related isolated congenital long QT syndrome","synonyms":["TRDN-related isolated congenital LQTS"]},"cs":{"name":"TRDN-related isolated congenital long QT syndrome","synonyms":["TRDN-related isolated congenital LQTS"]}},"xrefs":[{"source":"OMIM","code":"615441","qualifier":"NTBT","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":"TRDN","name":"triadin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25922419[PMID]_27807201[PMID]_27041150[PMID]","hgnc":"12261","ensembl":"ENSG00000186439","omim":"603283","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}