galactose epimerase deficiency

Summary
Synonym
  • GALE deficiency
  • GALE-D
  • UDP-galactose-4-epimerase deficiency
  • epimerase deficiency galactosemia
  • galactosemia III
  • galactosemia type 3
  • uridine diphosphate galactose-4-epimerase deficiency
Definition
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11.
Super Class
autosomal recessive disease galactosemia
External Links
Disease Ontology
DOID:0111458
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2582 GALE UDP-galactose-4-epimerase
2584 GALK1 galactokinase 1
2592 GALT galactose-1-phosphate uridylyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
74246 Gale galactose-4-epimerase, UDP
Displaying 1 entry
Gene ID Gene Symbol Description Source
38076 Gale UDP-galactose 4'-epimerase
Displaying 1 entry
Gene ID Gene Symbol Description Source
173171 gale-1 UDP-glucose 4-epimerase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852307 GAL10 bifunctional UDP-glucose 4-epimerase/aldose 1-epimerase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P51570 Galactokinase
Q14376 UDP-glucose 4-epimerase
The Human Phenotype Ontology
Displaying entries 11 - 18 of 18 in total
HPO ID HPO Term
HP:0002013 Vomiting
HP:0000750 Delayed speech and language development
HP:0008166 Decreased beta-galactosidase activity
HP:0001263 Global developmental delay
HP:0012023 Galactosuria
HP:0001508 Failure to thrive
HP:0001249 Intellectual disability
HP:0002240 Hepatomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
2582 GALE UDP-galactose-4-epimerase

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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: August 19, 2024