Catecholaminergic polymorphic ventricular tachycardia
ORPHA:3286DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CASQ2 | calsequestrin 2 | Disease-causing germline mutation(s) in | gene with protein product | 114251 |
| TRDN | triadin | Disease-causing germline mutation(s) in | gene with protein product | 603283 |
| RYR2 | ryanodine receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 180902 |
| CALM1 | calmodulin 1 | Disease-causing germline mutation(s) in | gene with protein product | 114180 |
| CALM2 | calmodulin 2 | Candidate gene tested in | gene with protein product | 114182 |
| CALM3 | calmodulin 3 | Candidate gene tested in | gene with protein product | 114183 |
| TECRL | trans-2,3-enoyl-CoA reductase like | Disease-causing germline mutation(s) in | gene with protein product | 617242 |
Фенотипы (HPO)10
Очень частый (80–99%)1
HP:0004756Ventricular tachycardia
Частый (30–79%)6
HP:0001695Cardiac arrest
HP:0001962Palpitations
HP:0002321Vertigo
HP:0004755Supraventricular tachycardia
HP:0005110Atrial fibrillation
HP:0031677Polymorphic ventricular tachycardia
Периодический (5–29%)3
HP:0001279Syncope
HP:0001645Sudden cardiac death
HP:0001663Ventricular fibrillation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)