Spastic Paraplegia 5a, Autosomal Recessive (SPG5A)

Alias:
Spg5a
Hereditary Spastic Paraplegia 5a
Autosomal Recessive Spastic Paraplegia Type 5a
Paraplegia, Spastic, Autosomal Recessive, Type 5a
Autosomal Recessive Spastic Paraplegia 5a
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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5a型,常染色体隐性,也称为spg5a,与遗传性痉挛性截瘫5a型和遗传性痉挛性截瘫82型,常染色体隐性有关。与遗传性痉挛性截瘫5a型,常染色体隐性相关的重要的基因是CYP7B1(细胞色素P450家族7亚家族B成员1)。相关组织包括脊髓和大脑,相关表型为痉挛性截瘫和振动觉减退。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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20
121
27

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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