{"orpha":730631,"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CASQ2-related CPVT","CASQ2-related malignant paroxysmal ventricular tachycardia","CASQ2-related polymorphic ventricular tachycardia induced by catecholamines","CASQ2-related bidirectional ventricular tachycardia induced by catecholamine","CPVT2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730631/","orphanet_url":"https://www.orpha.net/en/disease/detail/730631","names":{"fr":{"name":"Tachycardie ventriculaire polymorphe catécholaminergique associée à CASQ2","synonyms":["TVPC associée à CASQ2","Tachycardie ventriculaire polymorphe induite par les catécholamines associée à CASQ2","Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée à CASQ2","Tachycardie ventriculaire paroxystique maligne associée à CASQ2"]},"de":{"name":"CASQ2-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie","synonyms":["CASQ2-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie","CASQ2-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie","CASQ2-assoziierte CPVT","CASQ2-assoziierte maligne paroxysmale ventrikuläre Tachykardie","CPVT2"]},"es":{"name":"Taquicardia ventricular polimórfica catecolaminérgica asociada al gen CASQ2","synonyms":["CPVT asociada a CASQ2","CPVT2","Taquicardia ventricular bidireccional asociada al gen CASQ2 inducida por catecolaminas","Taquicardia ventricular paroxística maligna asociada al gen CASQ2","Taquicardia ventricular polimórfica asociada al gen CASQ2 inducida por catecolaminas","TVPC asociada a CASQ2","TVPC2"]},"it":{"name":"Tachicardia ventricolare polimorfa catecolaminergica correlata a CASQ2","synonyms":["CPVT2","CPVT correlata a CASQ2","Tachicardia ventricolare parossistica maligna correlata a CASQ2","Tachicardia ventricolare polimorfa correlata a CASQ2 indotta dalle catecolamine","Tachicardia ventricolare bidirezionale correlata a CASQ2 indotta dalle catecolamine"]},"nl":{"name":"CASQ2-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie","synonyms":["CPVT2","CASQ2-gerelateerde CPVT","CASQ2-gerelateerde maligne paroxismale ventriculaire tachycardie","CASQ2-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen","CASQ2-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine"]},"pt":{"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia"},"pl":{"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["CASQ2-related CPVT","CASQ2-related malignant paroxysmal ventricular tachycardia","CASQ2-related polymorphic ventricular tachycardia induced by catecholamines","CASQ2-related bidirectional ventricular tachycardia induced by catecholamine","CPVT2"]},"cs":{"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["CASQ2-related CPVT","CASQ2-related malignant paroxysmal ventricular tachycardia","CASQ2-related polymorphic ventricular tachycardia induced by catecholamines","CASQ2-related bidirectional ventricular tachycardia induced by catecholamine","CPVT2"]}},"xrefs":[{"source":"OMIM","code":"611938","qualifier":"E","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":"CASQ2","name":"calsequestrin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301466[PMID]","hgnc":"1513","ensembl":"ENSG00000118729","omim":"114251","loci":["1p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}