Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Alias:
Autosomal Recessive Cerebellar Ataxia Due to Gba2 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伴晚期痉挛,也称为由于gba2缺乏导致的常染色体隐性遗传性小脑共济失调。与常染色体隐性遗传性小脑共济失调伴晚期痉挛有关的重要基因是GBA2(β-葡萄糖脑苷脂酶)。相关组织包括脑和眼,相关表型为痉挛和巴宾斯基征
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
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

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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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