Congenital Disorder of Glycosylation, Type Il (CDG1L)

Alias:
Congenital Disorder of Glycosylation Il
Congenital Disorder of Glycosylation 1l
Cdg Il
Cdg1l
Cdgil
Glycosylation, Congenital Disorder of, Type Il
Congenital Disorder of Glycosylation Type Il
Congenital Disorder of Glycosylation Type 1l
Alg9 Congenital Disorder of Glycosylation
Cdg-Il
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Il, also known as congenital disorder of glycosylation il, is related to congenital disorder of glycosylation, type in and congenital disorders of n-linked glycosylation and multiple pathway. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase), and among its related pathways/superpathways is Glycosylation and related congenital defects. Affiliated tissues include brain and kidney, and related phenotypes are abnormal facial shape and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
32
10

Medical Symptom

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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

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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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