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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, 11 (ARVD11)
Alias:
Arrhythmogenic Right Ventricular Dysplasia 11
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair
Arrhythmogenic Right Ventricular Cardiomyopathy 11
Arvd11
Arvc11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair
Arrhythmogenic Right Ventricular Dysplasia 11, Familial, and Mild Palmoplantar Keratoderma and Woolly Hair
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair
Familial Arrhythmogenic Right Ventricular Dysplasia 11
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11
Arvd11pk
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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11型,也称为心律失常性右心室发育不良11型,与掌跖角化病和肺透明细胞癌有关,症状包括气短和晕厥。与心律失常性右心室发育不良,家族性11型有关的重要基因是DSC2(Desmocollin 2),其相关通路/超级通路包括神经系统发育和DREAM抑制和杜氏醇表达。相关组织包括心脏和心室,相关表型为猝死和心悸。
Related ID:
MALACARDS:ARR027
OMIM:610476
MESH:D007645
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
常显
未知
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11
113
21
ARR027
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