{"orpha":727192,"name":"Calmodulin-related isolated congenital long QT syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Calmodulin-related isolated congenital LQTS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727192/","orphanet_url":"https://www.orpha.net/en/disease/detail/727192","names":{"fr":{"name":"Syndrome du QT long congénital isolé associés aux calmodulines","synonyms":["LQTS congénital isolé associés aux calmodulines"]},"de":{"name":"Calmodulin-assoziiertes isoliertes kongenitales Long-QT-Syndrom"},"es":{"name":"Síndrome de QT largo congénito aislado asociado a la calmodulina","synonyms":["SQTL aislado congénito asociado a la calmodulina"]},"it":{"name":"Sindrome del QT lungo congenita isolata correlata alla calmodulina","synonyms":["LQTS congenita isolata correlata alla calmodulina"]},"nl":{"name":"Calmoduline-gerelateerd geïsoleerd congenitaal lang-QT-syndroom","synonyms":["Calmoduline-gerelateerd geïsoleerd congenitaal LQTS"]},"pt":{"name":"Calmodulin-related isolated congenital long QT syndrome"},"pl":{"name":"Calmodulin-related isolated congenital long QT syndrome","synonyms":["Calmodulin-related isolated congenital LQTS"]},"cs":{"name":"Calmodulin-related isolated congenital long QT syndrome","synonyms":["Calmodulin-related isolated congenital LQTS"]}},"xrefs":[{"source":"OMIM","code":"616247","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616249","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618782","qualifier":"BTNT","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":"CALM1","name":"calmodulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23388215[PMID]_24076290[PMID]","hgnc":"1442","ensembl":"ENSG00000198668","omim":"114180","loci":["14q32.11"]},{"symbol":"CALM2","name":"calmodulin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23388215[PMID]_24917665[PMID]","hgnc":"1445","ensembl":"ENSG00000143933","omim":"114182","loci":["2p21"]},{"symbol":"CALM3","name":"calmodulin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31170290[PMID]","hgnc":"1449","ensembl":"ENSG00000160014","omim":"114183","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}