Spasticity, Childhood-Onset, with Hyperglycinemia (SPAHGC)

Alias:
Spasticity-Ataxia-Gait Anomalies Syndrome
Spahgc
Childhood-Onset Spasticity with Variant Non-Ketotic Hyperglycinemia
Childhood-Onset Spasticity with Hyperglycinemia
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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
痉挛性偏瘫-儿童期伴高血糖血症,也称为痉挛性偏瘫-共济失调-步态异常综合征。与痉挛性偏瘫-儿童期伴高血糖血症相关的基因是GLRX5(谷胱甘肽氧化酶5)。相关组织包括脊髓,相关表型为进行性痉挛和非酮性高血糖血症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
1
2
3

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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