Congenital short QT syndrome
ORPHA:51083DiseaseAutosomal dominantAll ages
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC4A3 | solute carrier family 4 member 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 106195 |
| KCNJ2 | potassium inwardly rectifying channel subfamily J member 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600681 |
| KCNH2 | potassium voltage-gated channel subfamily H member 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 152427 |
| KCNQ1 | potassium voltage-gated channel subfamily Q member 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 607542 |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 114204 |
Фенотипы (HPO)9
Облигатный (100%)1
HP:0012232Shortened QT interval
Очень частый (80–99%)1
HP:0001662Bradycardia
Частый (30–79%)2
HP:0001962Palpitations
HP:0005110Atrial fibrillation
Периодический (5–29%)5
HP:0001279Syncope
HP:0001645Sudden cardiac death
HP:0001663Ventricular fibrillation
HP:0001678Atrioventricular block
HP:0004308Ventricular arrhythmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 80 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)