双心型家族性单纯性致心律失常性心室发育不良
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899疾病亚型
别名
双心型家族性单纯性致心律失常性室性心肌病
基本事实
- 遗传方式
- 常染色体显性
相关基因 11
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PKP2 | plakophilin 2 | Disease-causing germline mutation(s) in |
| TGFB3 | transforming growth factor beta 3 | Disease-causing germline mutation(s) in |
| TTN | titin | Disease-causing germline mutation(s) (loss of function) in |
| DSC2 | desmocollin 2 | Disease-causing germline mutation(s) in |
| DSG2 | desmoglein 2 | Disease-causing germline mutation(s) in |
| DSP | desmoplakin | Disease-causing germline mutation(s) in |
| JUP | junction plakoglobin | Disease-causing germline mutation(s) in |
| LDB3 | LIM domain binding 3 | Disease-causing germline mutation(s) in |
| LMNA | lamin A/C | Disease-causing germline mutation(s) in |
| TMEM43 | transmembrane protein 43 | Disease-causing germline mutation(s) (loss of function) in |
| CTNNA3 | catenin alpha 3 | Disease-causing germline mutation(s) in |
外部标识与链接
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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）