Congenital Disorder of Glycosylation, Type Ip (CDG1P)

Alias:
Cdg1p
Congenital Disorder of Glycosylation Type Ip
Congenital Disorder of Glycosylation Ip
Congenital Disorder of Glycosylation 1p
Cdg-Ip
Carbohydrate Deficient Glycoprotein Syndrome Type Ip
Glycosylation, Congenital Disorder of, Type Ip
Congenital Disorder of Glycosylation Type 1p
Alg11-Congenital Disorder of Glycosylation
Cdg Syndrome Type Ip
Alg11-Cdg
Cdg Ip
Cdgip
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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
先天性糖基化紊乱,类型Ip,又称cdg1p,与先天性糖基化紊乱,类型I和先天性N-连接糖基化紊乱以及多条途径有关,症状包括反复发作的癫痫、反弓症和呕吐。与先天性糖基化紊乱,类型Ip有关的重要基因是ALG11(ALG11 Alpha-1,2-Mannosyltransferase)。相关组织包括皮肤和大脑,相关表型为智力障碍和癫痫。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
8
38
4

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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