Spastic Paraplegia 85, Autosomal Recessive (SPG85)

Alias:
Spg85
Hereditary Spastic Paraplegia 85
Paraplegia, Spastic, Autosomal Recessive, Type 85
Autosomal Recessive Spastic Paraplegia Type 85
Spastic Paraplegia 85 Autosomal Recessive
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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85型,常染色体隐性,也称为spg85,与遗传性痉挛性截瘫83型,常染色体隐性,和遗传性痉挛性截瘫86型,常染色体隐性有关。与遗传性痉挛性截瘫85型,常染色体隐性相关的基因是RNF170(环指蛋白170),其相关通路/超通路包括整合乳腺癌通路和E2F6介导的转录调控。相关组织包括大脑,相关表型为视神经萎缩和下肢痉挛。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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6
24
5

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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