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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51570 | Galactokinase | |
| Q14376 | UDP-glucose 4-epimerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0011463 | Childhood onset |
| HP:0000952 | Jaundice |
| HP:0002194 | Delayed gross motor development |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003355 | Aminoaciduria |
| HP:0001252 | Hypotonia |
| HP:0012024 | Hypergalactosemia |
| HP:0001744 | Splenomegaly |
| HP:0000007 | Autosomal recessive inheritance |
