Hereditary atrial fibrillation
ORPHA:334DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены24
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ABCC9 | ATP binding cassette subfamily C member 9 | Candidate gene tested in | gene with protein product | 601439 |
| PITX2 | paired like homeodomain 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601542 |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600163 |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600576 |
| KCNE1 | potassium voltage-gated channel subfamily E regulatory subunit 1 | Candidate gene tested in | gene with protein product | 176261 |
| KCNE2 | potassium voltage-gated channel subfamily E regulatory subunit 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 603796 |
| KCNJ2 | potassium inwardly rectifying channel subfamily J member 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600681 |
| KCNQ1 | potassium voltage-gated channel subfamily Q member 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 607542 |
| NKX2-5 | NK2 homeobox 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600584 |
| GJA5 | gap junction protein alpha 5 | Disease-causing germline mutation(s) in | gene with protein product | 121013 |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Candidate gene tested in | gene with protein product | 600235 |
| KCNJ3 | potassium inwardly rectifying channel subfamily J member 3 | Disease-causing germline mutation(s) in | gene with protein product | 601534 |
| MYL4 | myosin light chain 4 | Disease-causing germline mutation(s) in | gene with protein product | 160770 |
| TTN | titin | Major susceptibility factor in | gene with protein product | 188840 |
| NKX2-6 | NK2 homeobox 6 | Major susceptibility factor in | gene with protein product | 611770 |
| SCN4B | sodium voltage-gated channel beta subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 608256 |
| KCNA5 | potassium voltage-gated channel subfamily A member 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 176267 |
| NUP155 | nucleoporin 155 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606694 |
| NPPA | natriuretic peptide A | Disease-causing germline mutation(s) in | gene with protein product | 108780 |
| SCN3B | sodium voltage-gated channel beta subunit 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608214 |
| GATA6 | GATA binding protein 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601656 |
| GATA5 | GATA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611496 |
| SCN2B | sodium voltage-gated channel beta subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601327 |
| KCNJ5 | potassium inwardly rectifying channel subfamily J member 5 | Disease-causing germline mutation(s) in | gene with protein product | 600734 |
Фенотипы (HPO)11
Частый (30–79%)8
HP:0001279Syncope
HP:0001962Palpitations
HP:0002094Dyspnea
HP:0002321Vertigo
HP:0003546Exercise intolerance
HP:0005110Atrial fibrillation
HP:0012378Fatigue
HP:0100749Chest pain
Периодический (5–29%)3
HP:0001658Myocardial infarction
HP:0001727Thromboembolic stroke
HP:0001907Thromboembolism
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)