Congenital Disorder of Glycosylation, Type Ir (CDG1R)

Alias:
Congenital Disorder of Glycosylation Type Ir
Cdg1r
Congenital Disorder of Glycosylation 1r
Cdg Ir
Cdg-Ir
Cdgir
Carbohydrate Deficient Glycoprotein Syndrome Type Ir
Glycosylation, Congenital Disorder of, Type Ir
Congenital Disorder of Glycosylation Type 1r
Congenital Disorder of Glycosylation Ir
Cdg Syndrome Type Ir
Ddost-Cdg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Ir, also known as congenital disorder of glycosylation type ir, is related to hypotonia and otitis media, and has symptoms including constipation An important gene associated with Congenital Disorder of Glycosylation, Type Ir is DDOST (Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit). Affiliated tissues include liver and skin, and related phenotypes are seizure and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
5
2

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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