Congenital Disorder of Glycosylation, Type Iij (CDG2J)

Alias:
Congenital Disorder of Glycosylation Type Iij
Cdg2j
Cdg Iij
Carbohydrate Deficient Glycoprotein Syndrome Type Iij
Congenital Disorder of Glycosylation Type 2j
Cdg Syndrome Type Iij
Cdg-Iij
Cdgiij
Glycosylation, Congenital Disorder of, Type Iij
Cog4-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2j
Cog4-Cdg
Cdgiidj
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iij, also known as congenital disorder of glycosylation type iij, is related to distal spinal muscular atrophy type 3 and galactosemia iii, and has symptoms including ataxia An important gene associated with Congenital Disorder of Glycosylation, Type Iij is COG4 (Component Of Oligomeric Golgi Complex 4), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include liver and brain, and related phenotypes are abnormal protein n-linked glycosylation and abnormal protein o-linked glycosylation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
15
51
6

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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