Autosomal Recessive Ataxia Due to Pex2 Deficiency

Alias:
Mild Peroxisomal Disorder Due to Pex2 Deficiency
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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
常染色体隐性遗传性小脑共济失调,也称为轻度Pex2缺乏症。与常染色体隐性遗传性小脑共济失调相关的基因是PEX2(线粒体生成因子2)。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
3
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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

Name
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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