Congenital Disorder of Glycosylation, Type Iil (CDG2L)

Alias:
Congenital Disorder of Glycosylation Type Iil
Cdg2l
Congenital Disorder of Glycosylation Type 2l
Cdg Syndrome Type Iil
Cog6-Cgd
Cdg Iil
Cdg-Iil
Cdgiil
Glycosylation, Congenital Disorder of, Type Iil
Cog6-Ongenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2l
Cdgiidl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iil, also known as congenital disorder of glycosylation type iil, is related to galactosemia iii and galactosemia i, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iil is COG6 (Component Of Oligomeric Golgi Complex 6), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and hypohidrosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
26
7

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

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PMID
Journal
Year
IF
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