Arthrogryposis, Distal, with Impaired Proprioception and Touch (DAIPT)

远端关节挛缩伴本体感觉和触觉受损(来自ICD-11)

别称:

Daipt

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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, with Impaired Proprioception and Touch, also known as daipt, is a condition characterized by joint contractures and impaired proprioception and touch. The PIEZO2 gene, also known as Piezo Type Mechanosensitive Ion Channel Component 2, is a significant gene associated with this condition. Related phenotypes include scoliosis and dysarthria.

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