Details of Disease

General Information of Disease (ID: DISEMWE1)

Disease Name Congenital disorder of glycosylation type II
Synonyms B4GALT1-CDG (CDG-2d); MOGS-CDG; MGAT2-CDG (CDG-2a); MGAT2-CDG; B4GALT1-CDG; MOGS-CDG (CDG-2b); congenital disorders of glycosylation, type II; congenital disorder of glycosylation type II
Definition A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
Disease Hierarchy
DIS400QP: Congenital disorder of glycosylation
DISEMWE1: Congenital disorder of glycosylation type II
Disease Identifiers
MONDO ID
MONDO_0005501
MESH ID
C535747
UMLS CUI
C5574948
MedGen ID
1812737

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATP6AP1 TTWDM4U Limited X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP6AP1 OTX1K0SJ Limited X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.