Congenital Disorder of Glycosylation, Type Ik (CDG1K)

Alias:
Cdg1k
Congenital Disorder of Glycosylation Type 1k
Congenital Disorder of Glycosylation Type Ik
Congenital Disorder of Glycosylation 1k
Alg1-Cdg
Cdg Ik
Cdg-Ik
Cdgik
Carbohydrate Deficient Glycoprotein Syndrome Type Ik
Glycosylation, Congenital Disorder of, Type Ik
Alg1-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Ik
Mannosyltransferase 1 Deficiency
Cdg Syndrome Type Ik
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Ik, also known as cdg1k, is related to alg1-congenital disorder of glycosylation and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Ik is ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase). Affiliated tissues include liver 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
2
9
26

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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