Congenital Disorder of Glycosylation, Type Iia (CDG2A)

Alias:
Congenital Disorder of Glycosylation Type Iia
Cdg2a
Congenital Disorder of Glycosylation Type 2a
Cdg Iia
Cdgiia
Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Alkuraya Syndrome
Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly
Carbohydrate Deficient Glycoprotein Syndrome Type Iia
Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder of, Type Iia
N-Acetylglucosaminyltransferase 2 Deficiency
Mgat2-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2a
Cdg Syndrome Type Iia
Cdgs2, Formerly
Cdgs Type Ii
Mgat2-Cdg
Cdgs2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iia, also known as congenital disorder of glycosylation type iia, is related to congenital disorder of glycosylation, type iin and congenital disorder of glycosylation, type ia, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iia is MGAT2 (Alpha-1,6-Mannosyl-Glycoprotein 2-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include brain and tongue, and related phenotypes are global developmental delay and abnormal facial shape
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
19
86
19

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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