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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Ip, also known as cdg1p, is related to congenital disorder of glycosylation, type in and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including seizures, opisthotonus and vomiting, recurrent. An important gene associated with Congenital Disorder of Glycosylation, Type Ip is ALG11 (ALG11 Alpha-1,2-Mannosyltransferase). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
8
38
4

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
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