Brugada syndrome
ORPHA:130DiseaseAutosomal dominant, Not applicableAdult, Childhood
Ассоциированные гены22
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HCN4 | hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Candidate gene tested in | gene with protein product | 605206 |
| ABCC9 | ATP binding cassette subfamily C member 9 | Candidate gene tested in | gene with protein product | 601439 |
| CACNB2 | calcium voltage-gated channel auxiliary subunit beta 2 | Candidate gene tested in | gene with protein product | 600003 |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Disease-causing germline mutation(s) in | gene with protein product | 114205 |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Candidate gene tested in | gene with protein product | 114204 |
| KCNE3 | potassium voltage-gated channel subfamily E regulatory subunit 3 | Candidate gene tested in | gene with protein product | 604433 |
| GPD1L | glycerol-3-phosphate dehydrogenase 1 like | Candidate gene tested in | gene with protein product | 611778 |
| KCND3 | potassium voltage-gated channel subfamily D member 3 | Candidate gene tested in | gene with protein product | 605411 |
| SCN3B | sodium voltage-gated channel beta subunit 3 | Candidate gene tested in | gene with protein product | 608214 |
| TRPM4 | transient receptor potential cation channel subfamily M member 4 | Candidate gene tested in | gene with protein product | 606936 |
| SCN10A | sodium voltage-gated channel alpha subunit 10 | Candidate gene tested in | gene with protein product | 604427 |
| SLMAP | sarcolemma associated protein | Disease-causing germline mutation(s) in | gene with protein product | 602701 |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Candidate gene tested in | gene with protein product | 600235 |
| AKAP9 | A-kinase anchoring protein 9 | Candidate gene tested in | gene with protein product | 604001 |
| KCNE5 | potassium voltage-gated channel subfamily E regulatory subunit 5 | Candidate gene tested in | gene with protein product | 300328 |
| RANGRF | RAN guanine nucleotide release factor | Candidate gene tested in | gene with protein product | 607954 |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 600163 |
| SCNN1A | sodium channel epithelial 1 subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 600228 |
| SEMA3A | semaphorin 3A | Disease-causing germline mutation(s) in | gene with protein product | 603961 |
| SCN2B | sodium voltage-gated channel beta subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 601327 |
| KCNJ8 | potassium inwardly rectifying channel subfamily J member 8 | Candidate gene tested in | gene with protein product | 600935 |
| PKP2 | plakophilin 2 | Candidate gene tested in | gene with protein product | 602861 |
Фенотипы (HPO)12
Частый (30–79%)4
HP:0001279Syncope
HP:0001695Cardiac arrest
HP:0011712Right bundle branch block
HP:0012251ST segment elevation
Периодический (5–29%)6
HP:0001649Tachycardia
HP:0001663Ventricular fibrillation
HP:0004751Paroxysmal ventricular tachycardia
HP:0004755Supraventricular tachycardia
HP:0011704Sick sinus syndrome
HP:0011705First degree atrioventricular block
Очень редкий (1–4%)2
HP:0004308Ventricular arrhythmia
HP:0011715Trifascicular block
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Point prevalence | 6-9 / 10 000 | 75 | South East Asia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)