{"orpha":730618,"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RYR2-related CPVT","RYR2-related malignant paroxysmal ventricular tachycardia","RYR2-related polymorphic ventricular tachycardia induced by catecholamines","CPVT1","RYR2-related bidirectional ventricular tachycardia induced by catecholamine"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730618/","orphanet_url":"https://www.orpha.net/en/disease/detail/730618","names":{"fr":{"name":"Tachycardie ventriculaire polymorphe catécholaminergique associée à RYR2","synonyms":["TVPC associée à RYR2","Tachycardie ventriculaire polymorphe induite par les catécholamines associée à RYR2","Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée à RYR2","Tachycardie ventriculaire paroxystique maligne associée à RYR2"]},"de":{"name":"RYR2-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie","synonyms":["RYR2-assoziierte CPVT","RYR2-assoziierte maligne paroxysmale ventrikuläre Tachykardie","CPVT1","RYR2-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie","RYR2-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie"]},"es":{"name":"Taquicardia ventricular polimórfica catecolaminérgica asociada al gen RYR2","synonyms":["CPVT asociada a RYR2","CPVT1","Taquicardia ventricular bidireccional asociada al gen RYR2 inducida por catecolaminas","Taquicardia ventricular paroxística maligna asociada al gen RYR2","Taquicardia ventricular polimórfica asociada al gen RYR2 inducida por catecolaminas","TVPC asociada a RYR2","TVPC1"]},"it":{"name":"Tachicardia ventricolare polimorfa catecolaminergica correlata a RYR2","synonyms":["CPVT correlata a RYR2","Tachicardia ventricolare parossistica maligna correlata a RYR2","Tachicardia ventricolare polimorfa correlata a RYR2 indotta dalle catecolamine","Tachicardia ventricolare bidirezionale correlata a RYR2 indotta dalle catecolamine","CPVT1"]},"nl":{"name":"RYR2-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie","synonyms":["CPVT1","RYR2-gerelateerde CPVT","RYR2-gerelateerde maligne paroxismale ventriculaire tachycardie","RYR2-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen","RYR2-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine"]},"pt":{"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia"},"pl":{"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["RYR2-related CPVT","RYR2-related malignant paroxysmal ventricular tachycardia","RYR2-related polymorphic ventricular tachycardia induced by catecholamines","CPVT1","RYR2-related bidirectional ventricular tachycardia induced by catecholamine"]},"cs":{"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia","synonyms":["RYR2-related CPVT","RYR2-related malignant paroxysmal ventricular tachycardia","RYR2-related polymorphic ventricular tachycardia induced by catecholamines","CPVT1","RYR2-related bidirectional ventricular tachycardia induced by catecholamine"]}},"xrefs":[{"source":"OMIM","code":"604772","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":"RYR2","name":"ryanodine receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301466[PMID]","hgnc":"10484","ensembl":"ENSG00000198626","omim":"180902","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}