Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 (HGPPS1)

家族性水平性侧视麻痹症伴进行性脊柱侧凸1型(来自ICD-11)

别称:

Hgpps

Horizontal Gaze Palsy with Progressive Scoliosis

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis

Familial Horizontal Gaze Palsy with Progressive Scoliosis

Progressive External Ophthalmoplegia and Scoliosis

Hgpps1

Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze

Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, Type 1

Ophthalmoplegia, Progressive External, and Scoliosis

Gaze Palsy, Horizontal, with Progressive Scoliosis

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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

凝视性麻痹，家族性水平型，伴有进行性脊柱侧弯1，也称为hgpps，与脊柱侧弯和内斜视有关。与凝视性麻痹，家族性水平型，伴有进行性脊柱侧弯1相关的基因是ROBO3（圆环导向受体3），其相关通路/超级通路包括SLIT和ROBO表达的调节和SLIT和ROBO调节的中缝神经轴突导向。相关组织包括眼睛和脑桥，相关表型包括脊柱侧弯和驼背。

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