Spastic Ataxia 4, Autosomal Recessive (SPAX4)

Alias:
Spax4
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Autosomal Recessive Spastic Ataxia Type 4
Ataxia, Spastic, Type 4, Autosomal Dominant
Spastic Ataxia 4
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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
脊髓性共济失调4,常染色体隐性,也称为spax4,与脊髓性共济失调4和脊髓性共济失调有关,症状包括偏瘫、痉挛重要与脊髓性共济失调4,常染色体隐性相关的基因是MTPAP(线粒体多聚A聚合酶)。相关组织包括舌,相关表型为高反射和言语障碍
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
1
4
2

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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