Spastic Paraplegia 27, Autosomal Recessive (SPG27)

Alias:
Spg27
Autosomal Recessive Spastic Paraplegia Type 27
Hereditary Spastic Paraplegia 27
Spastic Paraplegia-27, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 27
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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27型,常染色体隐性,也称为spg27,与遗传性痉挛性截瘫23型和常染色体显性遗传性痉挛性截瘫36型有关。与遗传性痉挛性截瘫27型,常染色体隐性相关的关键基因是SPG27(遗传性痉挛性截瘫27型(常染色体隐性))。相关表型为痉挛性截瘫和巴宾斯基征。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
青少年
<1/1000000
6
35
1

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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