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
galactosemia

Summary
Synonym
  • Galactosaemia
  • Galactose intolerance
Definition
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:9870
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 40 of 70 in total
Gene ID Gene Symbol Description Source
3482 IGF2R insulin like growth factor 2 receptor
3939 LDHA lactate dehydrogenase A
3956 LGALS1 galectin 1
4023 LPL lipoprotein lipase
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4534 MTM1 myotubularin 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
5211 PFKL phosphofructokinase, liver type
5213 PFKM phosphofructokinase, muscle
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11677 Akr1b1 aldo-keto reductase family 1 member B
14430 Galt galactose-1-phosphate uridyl transferase
74246 Gale galactose-4-epimerase, UDP
319625 Galm galactose mutarotase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24192 Akr1b1 aldo-keto reductase family 1 member B1
298003 Galt galactose-1-phosphate uridylyltransferase
313843 Galm galactose mutarotase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33935 Galt Galactose-1-phosphate uridylyltransferase
38076 Gale UDP-galactose 4'-epimerase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173171 gale-1 UDP-glucose 4-epimerase
175506 ZK1058.3 putative galactose-1-phosphate uridylyltransferase
Displaying all 6 entries
Gene ID Gene Symbol Description Source
851974 YPR1 trifunctional aldehyde reductase/carbonyl reductase (NADPH)/glucose 1-dehydrogenase (NADP(+)) YPR1
852306 GAL7 UDP-glucose:hexose-1-phosphate uridylyltransferase
852307 GAL10 bifunctional UDP-glucose 4-epimerase/aldose 1-epimerase
854287 GCY1 glycerol 2-dehydrogenase (NADP(+)) GCY1
855808 YNR071C aldose 1-epimerase superfamily protein
856617 YHR210C aldose 1-epimerase superfamily protein
Related Glycoprotein
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