{"orpha":730657,"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Calmodulin-related CPVT","Calmodulin-related malignant paroxysmal ventricular tachycardia","Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines","Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730657/","orphanet_url":"https://www.orpha.net/en/disease/detail/730657","names":{"fr":{"name":"Tachycardie ventriculaire polymorphe catécholaminergique associée aux calmodulines","synonyms":["TVPC associée aux calmodulines","Tachycardie ventriculaire polymorphe induite par les catécholamines associée aux calmodulines","Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée aux calmodulines","Tachycardie ventriculaire paroxystique maligne associée aux calmodulines"]},"de":{"name":"Calmodulin-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie","synonyms":["Calmodulin-assoziierte CPVT","Calmodulin-assoziierte maligne paroxysmale ventrikuläre Tachykardie","Calmodulin-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie","Calmodulin-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie"]},"es":{"name":"Taquicardia ventricular polimórfica catecolaminérgica asociada a la calmodulina","synonyms":["CPVT asociada a la calmodulina","Taquicardia ventricular bidireccional asociada a la calmodulina inducida por catecolaminas","Taquicardia ventricular paroxística maligna asociada a la calmodulina","Taquicardia ventricular polimórfica asociada a la calmodulina inducida por catecolaminas","TVPC asociada a la calmodulina"]},"it":{"name":"Tachicardia ventricolare polimorfa catecolaminergica correlata alla calmodulina","synonyms":["CPVT correlata alla calmodulina","Tachicardia ventricolare parossistica maligna correlata alla calmodulina","Tachicardia ventricolare polimorfa correlata alla calmodulina indotta dalle catecolamine","Tachicardia ventricolare bidirezionale correlata alla calmodulina indotta dalle catecolamine"]},"nl":{"name":"Calmoduline-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie","synonyms":["Calmoduline-gerelateerde CPVT","Calmoduline-gerelateerde maligne paroxismale ventriculaire tachycardie","Calmoduline-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen","Calmoduline-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine"]},"pt":{"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia"},"pl":{"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["Calmodulin-related CPVT","Calmodulin-related malignant paroxysmal ventricular tachycardia","Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines","Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines"]},"cs":{"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["Calmodulin-related CPVT","Calmodulin-related malignant paroxysmal ventricular tachycardia","Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines","Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines"]}},"xrefs":[{"source":"OMIM","code":"614916","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618782","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":3286,"name":"Catecholaminergic polymorphic ventricular tachycardia","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":"23040497[PMID]_20301466[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":"24917665[PMID]_37528649[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":"37528649[PMID]","hgnc":"1449","ensembl":"ENSG00000160014","omim":"114183","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}