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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
Arthrogryposis, Distal, Type 2b3 (DA2B3)
Alias:
Da2b3
Distal Arthrogryposis Type 2b3
Arthrogryposis, Distal, 2b3
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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
关节挛缩,远端,2b3型,也称为da2b3,与关节挛缩综合症和致死性先天性挛缩综合症4有关。与关节挛缩,远端,2b3型有关的重要基因是MYH3(肌球蛋白重链3),其相关通路/超级通路包括心脏传导和细胞骨架重塑,以及Rho GTPases调节的肌动蛋白细胞骨架。相关表型包括下斜眼裂和窄嘴。
Related ID:
MALACARDS:ART157
OMIM:618436
MESH:D001176
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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14
104
6
ART157
Medical Symptom
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