Details of Disease

Disease Name

Classic galactosemia

galactose-1-phosphate uridylyltransferase deficiency; galactosemia; galactosemia, Duarte variant; galactosemia, classic; transferase deficiency; Galt deficiency; classical galactosemia, homozygous duarte-type; galactose-1-phosphate uridyltransferase deficiency; classic galactosemia; GALT deficiency; galactosemia type 1

Definition

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

Disease Hierarchy

DIS6V2Q3: Galactosemia

DISDS4G7: Disorder of galactose and fructose metabolism

DIS4V9SY: Inherited primary ovarian failure

DISX7P8M: Classic galactosemia

Disease Identifiers

MONDO ID

MONDO_0009258

MESH ID

D005693

UMLS CUI

C0268151

OMIM ID

230400

MedGen ID

82777

Orphanet ID

79239

SNOMED CT ID

124354006

General Information of Disease (ID: DISX7P8M)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP51A1	TT67TDP	Strong	Genetic Variation	[1]
GAL	TTXZAJ5	Strong	Biomarker	[2]
GALE	TTGRHIB	Strong	Biomarker	[3]
LGALS1	TTO3NYT	Strong	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
GALM	DE63NYG	Strong	Genetic Variation	[3]
UGP2	DE4U39Y	Strong	Biomarker	[4]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SEPTIN4	OTD16B30	moderate	Biomarker	[5]
AMH	OT5FH4BD	Strong	Biomarker	[6]
GP2	OTB6TMGY	Strong	Biomarker	[7]
LGALS7	OTMSVI7R	Strong	Biomarker	[8]
MAP1B	OTVXW089	Strong	Biomarker	[4]
SDF4	OTQ7WFYW	Strong	Genetic Variation	[9]
GALT	OTCATU66	Definitive	Autosomal recessive	[10]
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⏷ Show the Full List of 7 DOT(s)

References

1	Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Hum Genet. 2017 Feb;136(2):205-225. doi: 10.1007/s00439-016-1747-6. Epub 2016 Nov 22.
2	Discovery of novel inhibitors of human galactokinase by virtual screening.J Comput Aided Mol Des. 2019 Apr;33(4):405-417. doi: 10.1007/s10822-019-00190-3. Epub 2019 Feb 26.
3	The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.Mol Genet Metab. 2019 Apr;126(4):362-367. doi: 10.1016/j.ymgme.2019.01.018. Epub 2019 Mar 18.
4	Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.Hum Mol Genet. 2016 Sep 1;25(17):3699-3714. doi: 10.1093/hmg/ddw217. Epub 2016 Jul 27.
5	Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.Orphanet J Rare Dis. 2018 Sep 19;13(1):164. doi: 10.1186/s13023-018-0906-3.
6	Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.J Inherit Metab Dis. 2018 Sep;41(5):785-790. doi: 10.1007/s10545-018-0177-0. Epub 2018 May 2.
7	GALT carcinoma: three case reports with glycoprotein 2 immunohistochemistry and electron microscopic observations.Histopathology. 2018 Sep;73(3):521-528. doi: 10.1111/his.13639. Epub 2018 Jun 6.
8	The unfolded protein response has a protective role in yeast models of classic galactosemia.Dis Model Mech. 2014 Jan;7(1):55-61. doi: 10.1242/dmm.012641. Epub 2013 Sep 25.
9	Galactosemia, a single gene disorder with epigenetic consequences.Pediatr Res. 2010 Mar;67(3):286-92. doi: 10.1203/PDR.0b013e3181cbd542.
10	Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry. 1992 Jun 23;31(24):5430-3. doi: 10.1021/bi00139a002.