Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
DiGeorge syndrome

Summary
Synonym
  • 22q11.2 deletion syndrome
  • DiGeorge sequence
  • DiGeorge's syndrome
  • Pharyngeal pouch syndrome
Definition
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Super Class
autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
Disease Ontology
DOID:11198
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
1312 COMT catechol-O-methyltransferase
2629 GBA1 glucosylceramidase beta 1
3340 NDST1 N-deacetylase and N-sulfotransferase 1
6576 SLC25A1 solute carrier family 25 member 1
6783 SULT1E1 sulfotransferase family 1E member 1
8398 PLA2G6 phospholipase A2 group VI
9993 DGCR2 DiGeorge syndrome critical region gene 2
27163 NAAA N-acylethanolamine acid amidase
130749 CPO carboxypeptidase O
Displaying 1 entry
Gene ID Gene Symbol Description Source
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29633 Ndst1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38736 sfl sulfateless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177675 hst-1 Heparan sulfate N-sulfotransferase 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 131 in total
HPO ID HPO Term
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000262 Turricephaly
HP:0000272 Malar flattening
HP:0000276 Long face
HP:0000286 Epicanthus
HP:0000316 Hypertelorism
HP:0000322 Short philtrum
HP:0000343 Long philtrum
HP:0000347 Micrognathia
Displaying 1 entry
Gene ID Gene Symbol Description
1312 COMT catechol-O-methyltransferase
About Release Notes Help Feedback

Click here to visit the beta site.

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024