Arthrogryposis, Distal, Type 7 (DA7)

远端关节屈曲挛缩症7型(来自ICD-11)

别称:

Hecht Syndrome

Trismus-Pseudocamptodactyly Syndrome

Distal Arthrogryposis Type 7

Dutch-Kentucky Syndrome

Hecht-Beals Syndrome

Da7

Mouth, Inability to Open Completely, and Short Finger-Flexor Tendons

Mouth, Inability to Completely Open, and Short Finger-Flexor Tendons

Trismus Pseudocamptodactyly Syndrome

Arthrogryposis, Distal, 7

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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

Arthrogryposis, Distal, Type 7,又称赫希综合症，与卡尼综合症变种和关节挛缩综合症有关。与Arthrogryposis, Distal, Type 7相关的基因是MYH8（肌球蛋白重链8），其相关通路/超级通路包括ERK信号通路和整合素通路。相关表型为身材矮小和影响手部掌骨的对称性掌骨融合。

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