D-Glyceric Aciduria (D-GA)

Alias:
D-Glyceric Acidemia
D-Glycerate Kinase Deficiency
Glycerate Kinase Deficiency
D-Glycericacidemia
Non Ketotic Hyperglycinemia Syndrome
Deficiency of Glycerate Kinase
Hyperglycinemia, Non-Ketotic
D-Ga
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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
D-甘油酸尿症,又称为d-甘油酸血症,与高草酸尿症、原发性II型和甘氨酸脑病有关。与D-甘油酸尿症相关的基因是GLYCTK(甘油酸激酶),其相关通路/超级通路包括代谢和糖酵解(BioCyc)。相关组织包括大脑和舌,相关表型为代谢性酸中毒和进行性脑病。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
--
10
38
13

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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