Congenital Disorder of Deglycosylation 1 (CDDG1)

Alias:
Congenital Disorder of Deglycosylation
Cddg1
Cddg
Congenital Disorder of Glycosylation, Type Iv, Formerly
Congenital Disorder of Glycosylation Type Iv
Congenital Disorder of Glycosylation 1v
Deglycosylation, Congenital Disorder of
Cdg1v, Formerly
Cdg1v
Cdgiv
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Deglycosylation 1, also known as congenital disorder of deglycosylation, is related to congenital disorder of deglycosylation 2 and ngly1-congenital disorder of deglycosylation, and has symptoms including involuntary movements An important gene associated with Congenital Disorder of Deglycosylation 1 is NGLY1 (N-Glycanase 1). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
1
12
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top