家族性进行性心脏传导阻滞
Hereditary progressive cardiac conduction defect
ORPHA:871疾病
定义 英文原文（暂无中文）
A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
别名
家族性进行性心脏传导阻滞
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) (loss of function) in |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) (loss of function) in |
| NKX2-5 | NK2 homeobox 5 | Modifying germline mutation in |
| TRPM4 | transient receptor potential cation channel subfamily M member 4 | Disease-causing germline mutation(s) (gain of function) in |
临床表型 8
常见 79–30%8
- 腹痛 HP:0002027
- 心律失常 HP:0011675
- 束支传导阻滞 HP:0011710
- 充血性心力衰竭 HP:0001635
- 呼吸困难 HP:0002094
- 心脏传导阻滞 HP:0012722
- 晕厥 HP:0001279
- 眩晕 HP:0002321
外部标识与链接
OrphanetOMIM:113900OMIM:115080OMIM:140400MONDO:0019490GARD:10005ICD-10 I45.8ICD-11 BC63.YClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）