Spastic Paraplegia 9a, Autosomal Dominant (SPG9A)

Alias:

Hereditary Spastic Paraplegia 9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Ad-Spg9a

Spg9a

Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Autosomal Dominant Spastic Paraplegia Type 9a

Spastic Paraparesis with Amyotrophy, Cataracts, and Gastroesophageal Reflux

Cataracts with Motor Neuronopathy, Short Stature and Skeletal Abnormalities

Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux

Spastic Paraparesis with Amyopathy, Cataracts and Gastroesophageal Reflux

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Spastic Paraplegia 9, Autosomal Dominant

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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

遗传性痉挛性截瘫9a，常染色体显性，也称为遗传性痉挛性截瘫9a，与遗传性痉挛性截瘫9b，常染色体隐性，以及痉挛性截瘫5a有关，症状包括上运动神经元征。与遗传性痉挛性截瘫9a，常染色体显性有关的重要基因是ALDH18A1（醛脱氢酶18家族成员A1）。相关组织包括眼睛和脊髓，相关表型为痉挛步态和下肢高反射。

Related ID：

MALACARDS：SPS158

OMIM：601162

MESH：D015419