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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
Disease Ontology
DOID:9870
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
231 AKR1B1 aldo-keto reductase family 1 member B
1409 CRYAA crystallin alpha A
2582 GALE UDP-galactose-4-epimerase
2592 GALT galactose-1-phosphate uridylyltransferase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
11677 Akr1b1 aldo-keto reductase family 1 member B
12954 Cryaa crystallin, alpha A
14430 Galt galactose-1-phosphate uridyl transferase
74246 Gale galactose-4-epimerase, UDP
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24192 Akr1b1 aldo-keto reductase family 1 member B1
24273 Cryaa crystallin, alpha A
298003 Galt galactose-1-phosphate uridylyltransferase
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 4 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
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024