Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy (PEAMO)

Alias:
Peamo
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
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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
进行性脑病伴肌萎缩和视神经萎缩,也称为peamo。与进行性脑病伴肌萎缩和视神经萎缩相关的基因是TBCE(微管折叠辅助因子E)。相关组织包括大脑,相关表型为痉挛性共济失调和远端肌萎缩。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
6
5

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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