Details of Disease | DrugMAP

General Information of Disease (ID: DISEB0V4)

Disease Name	Galactokinase deficiency
Synonyms	Galk deficiency; galactosemia 2; hereditary galactokinase deficiency; galactokinase deficiency galactosemia; galactokinase deficiency with cataracts; galactosemia type 2; galactosemia II; GALK-D; galactokinase deficiency; GALK deficiency
Definition	Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
Disease Hierarchy	DIS6V2Q3: Galactosemia DISDS4G7: Disorder of galactose and fructose metabolism DISEB0V4: Galactokinase deficiency
Disease Identifiers	MONDO ID MONDO_0009255 MESH ID D005693 UMLS CUI C0268155 OMIM ID 230200 MedGen ID 120614 Orphanet ID 79237 SNOMED CT ID 124302001

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
PMVK	TTXMI0C	Disputed	Genetic Variation	[1]
GALE	TTGRHIB	Definitive	Biomarker	[2]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALK1	DE3OP9S	Limited	Genetic Variation	[3]
GALK1	DE3OP9S	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GALT	OTCATU66	moderate	Biomarker	[5]
GK	OTK2YRA0	Strong	Genetic Variation	[6]
MTUS1	OTBPALMU	Strong	Genetic Variation	[6]
GALK1	OTB2W7DW	Definitive	Autosomal recessive	[4]
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References

1	Molecular functions of conserved aspects of the GHMP kinase family.Biochemistry. 2004 Nov 23;43(46):14594-601. doi: 10.1021/bi048963o.
2	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.
3	Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.J Cell Biochem. 2018 Sep;119(9):7585-7598. doi: 10.1002/jcb.27097. Epub 2018 Jun 12.
4	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.
5	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.
6	A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611.