Spastic Paraplegia 10, Autosomal Dominant (SPG10)

Alias:
Spg10
Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10
Spastic Paraplegia 10 with or Without Peripheral Neuropathy
Paraplegia, Spastic, Autosomal Dominant, Type 10
Autosomal Dominant Spastic Paraplegia 10
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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10型,常染色体显性,也称为spg10,与神经病变和痉挛有关,症状包括尿急。与遗传性痉挛性截瘫10型,常染色体显性相关的基因是KIF5A(Kinesin Family Member 5A),其相关通路/超通路包括胰岛素处理。相关组织包括大脑和脊髓,相关表型为下肢痉挛和远端下肢肌萎缩。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
19
112
12

Medical Symptom

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

Gene & Mutation

#
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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