Spastic Paraplegia 79a, Autosomal Dominant, with Ataxia (SPG79A)

Alias:
Spg79a
Spastic Paraplegia 79a, Autosomal Dominant
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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79a伴共济失调,又名spg79a,与遗传性痉挛性截瘫79a和帕金森病,晚发性有关。与遗传性痉挛性截瘫79a伴共济失调相关的重要基因是UCHL1(泛素C端水解酶L1)。相关组织包括大脑,相关表型为步态共济失调和振动感觉障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
11
1

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

Category
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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