Gaba Aminotransferase Deficiency

Alias:
Gamma-Aminobutyric Acid Transaminase Deficiency
Gaba Transaminase Deficiency
Gamma-Amino Butyric Acid Transaminase Deficiency
Gamma Aminobutyric Acid Transaminase Deficiency
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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
GABA转氨酶缺乏症,又称γ-氨基丁酸转氨酶缺乏症,与琥珀酸半醛脱氢酶缺乏症和GABA转氨酶缺乏症有关,症状包括嗜睡。与GABA转氨酶缺乏症相关的重要基因是ABAT(4-氨基丁酸转氨酶),其相关通路/超级通路包括丙酮酸代谢和TCA循环III(动物)。附属组织包括大脑,相关表型为减少的乳头状体形成和死亡/衰老。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
7
52
11

Medical Symptom

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

Gene & Mutation

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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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