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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 (ARVD6)
Alias:
Arrhythmogenic Right Ventricular Dysplasia 6
Arrhythmogenic Right Ventricular Cardiomyopathy 6
Arvd6
Arvc6
Familial Arrhythmogenic Right Ventricular Dysplasia 6
Arrhythmogenic Right Ventricular Dysplasia-6
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
心律失常性右心室发育不良,家族性6型,也称为心律失常性右心室发育不良6型,与心律失常性右心室心肌病和肌病,肌纤维蛋白样,1型有关。与心律失常性右心室发育不良,家族性6型相关的重要基因是ARVD6(心律失常性右心室发育不良6型),其相关通路/超通路包括神经系统发育和角质化。相关组织包括心脏,相关表型为过早室性收缩和猝死。
Related ID:
MALACARDS:ARR049
OMIM:604401
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
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未知
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10
113
2
ARR049
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