Galactosemia Ii (GALAC2)

Alias:
Galactokinase Deficiency
Galk Deficiency
Galactokinase Deficiency with Cataracts
Deficiency of Galactokinase
Galactokinase Deficiency Galactosemia
Galactosemia Type 2
Galac2
Galk-D
Galactokinase Deficiency, Cataract
Galk - [galactokinase Deficiency]
Galactosemia 2
Galactosemias
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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
半乳糖血症II,又称半乳糖激酶缺乏症,与半乳糖血症III和半乳糖血症I有关。与半乳糖血症II相关的基因是GALK1(半乳糖激酶1),其相关通路/超级通路包括半乳糖代谢障碍和半乳糖代谢。在该疾病的背景下提到了天冬氨酸和精氨酸这两种药物。相关组织包括眼睛和大脑,相关表型为高半乳糖血症和血浆中乳糖醇水平升高。
Related ID:
MESH:D005693
ICD11:1173858031

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
15
67
34

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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