Glycine Encephalopathy 1 (GCE1)

Alias:
Non-Ketotic Hyperglycinemia
Gce
Nkh
Infantile Non-Ketotic Hyperglycinemia
Neonatal Non-Ketotic Hyperglycinemia
Infantile Glycine Encephalopathy
Neonatal Glycine Encephalopathy
Classic Glycine Encephalopathy
Hyperglycinemia, Nonketotic
Hyperglycinemia Nonketotic
Glycine Encephalopathy1
Encephalopathy, Glycine
Glycine Encephalopathy
Infantile Nkh
Neonatal Nkh
Gce1
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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
Glycine Encephalopathy 1,也被称为非酮症高血糖症,与典型甘氨酸脑病和甘氨酸脑病2有关。与Glycine Encephalopathy 1相关的基因是GLDC(甘氨酸脱羧酶),其相关通路/超级通路包括SLITs和ROBOs表达的调节以及甘氨酸代谢和降解。附属组织包括大脑和脊髓。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
42
107

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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