Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome

Alias:
Kyphoscoliosis-Lateral Tongue Atrophy-Hsp Syndrome
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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
脊柱侧弯-舌侧萎缩-遗传性痉挛性截瘫综合症,也称为脊柱侧弯-舌侧萎缩-脊髓性截瘫综合症。与脊柱侧弯-舌侧萎缩-遗传性痉挛性截瘫综合症有关的重要基因是KY(脊柱侧弯肽酶)。相关组织包括舌,相关表型为上肢近端肌肉无力和马蹄内翻足。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
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Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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