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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Galactosemia Iv (GALAC4)
Alias:
Galactose Mutarotase Deficiency
Galactosemia 4
Galac4
Galactosemia Type 4
Galm 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
半乳糖血症IV,又称半乳糖异构酶缺乏症,与白内障和腹部肥胖-代谢综合征有关。与半乳糖血症IV相关的重要基因是GALM(半乳糖异构酶)。相关组织包括肝脏和眼睛,相关表型为半乳糖代谢障碍和高半乳糖血症。
Related ID:
MALACARDS:GLC115
OMIM:618881
MESH:D005693
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/1000000
1
2
2
GLC115
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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