Congenital Disorder of Glycosylation, Type Iii (CDG2I)

Alias:
Congenital Disorder of Glycosylation Type Iii
Cdg2i
Carbohydrate Deficient Glycoprotein Syndrome Type Iii
Congenital Disorder of Glycosylation Type 2i
Cdgiii
Congenital Disorder of Glycosylation, Type I-Iix
Glycosylation, Congenital Disorder of, Type Iii
Cog5-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2i
Cog5-Cdg
Cdgiidi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iii, also known as congenital disorder of glycosylation type iii, is related to cog5-congenital disorder of glycosylation and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Iii is COG5 (Component Of Oligomeric Golgi Complex 5), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include brain and liver, and related phenotypes are delayed speech and language development and motor delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
28
106
10

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
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