Details of Disease | DrugMAP

General Information of Disease (ID: DIS16BDZ)

Disease Name	Galactose epimerase deficiency
Synonyms	Gale deficiency; galactosemia 3; GALE-D; GALE deficiency; galactosemia type 3; UDP-galactose-4-epimerase deficiency; uridine diphosphate galactose-4-epimerase deficiency; galactose epimerase deficiency; epimerase deficiency galactosemia
Definition	Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
Disease Hierarchy	DIS6V2Q3: Galactosemia DIS16BDZ: Galactose epimerase deficiency
Disease Identifiers	MONDO ID MONDO_0009257 MESH ID D005693 UMLS CUI C0751161 OMIM ID 230350 MedGen ID 199598 Orphanet ID 79238 SNOMED CT ID 8849004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GALE	TTGRHIB	Strong	Biomarker	[1]
GALE	TTGRHIB	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALK1	DE3OP9S	Strong	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GALT	OTCATU66	Strong	Biomarker	[4]
GALE	OTVFS16E	Definitive	Autosomal recessive	[2]
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References

1	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):775-779. doi: 10.1515/jpem-2017-0065.
4	Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.Dis Model Mech. 2013 Jan;6(1):84-94. doi: 10.1242/dmm.010207. Epub 2012 Jul 5.