Spastic Paraplegia 8, Autosomal Dominant (SPG8)

Alias:
Spg8
Hereditary Spastic Paraplegia 8
Autosomal Dominant Spastic Paraplegia Type 8
Paraplegia, Spastic, Autosomal Dominant, Type 8
Autosomal Dominant Spastic Paraplegia 8
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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8型,常染色体显性,也称为spg8,与遗传性痉挛性截瘫8型和痉挛有关,症状包括尿急。与遗传性痉挛性截瘫8型,常染色体显性相关的基因是WASHC5(WASH复合物亚基5)。相关组织包括眼睛和脊髓,相关表型为高反射和巴宾斯基征。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
青少年
<1/1000000
13
67
9

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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