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Standards Ontologies Notations
Guidelines
MIRAGE
congenital disorder of glycosylation

Summary
Synonym
  • carbohydrate-deficient glycoprotein syndrome
Definition
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.
Super Class
carbohydrate metabolic disorder physical disorder
Disease Ontology
DOID:5212
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2683 B4GALT1 beta-1,4-galactosyltransferase 1
5373 PMM2 phosphomannomutase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
108155 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
Displaying 1 entry
Gene ID Gene Symbol Description Source
41104 ATP6AP2 ATPase H+ transporting accessory protein 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
852196 ALG3 dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase
852407 ALG1 chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase
Related Glycoprotein
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025