Congenital Disorder of Glycosylation, Type Iib (CDG2B)

Alias:
Congenital Disorder of Glycosylation Type Iib
Glucosidase I Deficiency
Cdgiib
Cdg2b
Cdg Iib
Carbohydrate Deficient Glycoprotein Syndrome Type Iib
Glycosylation, Congenital Disorder of, Type Iib
Type Iib Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Type 2b
Mogs-Congenital Disorder of Glycosylation
Glucosidase 1 Deficiency
Cdg Syndrome Type Iib
Mogs-Cdg
Cdg-Iib
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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
先天性糖基化障碍,类型Iib,也称为先天性糖基化障碍类型Iib,与发育性和癫痫性脑病36和先天性糖基化障碍,类型I有关,症状包括癫痫发作。与先天性糖基化障碍,类型Iib有关的重要基因是MOGS(甘露糖寡糖葡萄糖苷酶),其相关通路/超级通路包括传染病和蛋白质代谢。附属组织包括肝脏和睾丸,相关表型为癫痫发作和异常面部形状。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
17
67
9

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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