Hereditary progressive cardiac conduction defect
ORPHA:871DiseaseAutosomal dominantAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600235 |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600163 |
| NKX2-5 | NK2 homeobox 5 | Modifying germline mutation in | gene with protein product | 600584 |
| TRPM4 | transient receptor potential cation channel subfamily M member 4 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 606936 |
Фенотипы (HPO)8
Частый (30–79%)8
HP:0001279Syncope
HP:0001635Congestive heart failure
HP:0002027Abdominal pain
HP:0002094Dyspnea
HP:0002321Vertigo
HP:0011675Arrhythmia
HP:0011710Bundle branch block
HP:0012722Heart block
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)