Details of Disease

General Information of Disease (ID: DIS6V2Q3)

• Disease Name: Galactosemia
• Synonyms: galactosemia; galactosaemia; galactose intolerance
• Definition: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISG0TKT: Disorder of galactose metabolism
  DIS6V2Q3: Galactosemia
• Disease Identifiers:
  MONDO ID: MONDO_0018116
  MESH ID: D005693
  UMLS CUI: C0016952
  MedGen ID: 8943
  HPO ID: HP:0004919
  Orphanet ID: 352
  SNOMED CT ID: 190745006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AKR1B1	TTFBNVI	Limited	Biomarker	[1]
CRYAA	TT8CWJG	Limited	Biomarker	[2]
CYP51A1	TT67TDP	Strong	Genetic Variation	[3]
GALE	TTGRHIB	Strong	Biomarker	[4]
MGAT1	TTYJRN5	Strong	Altered Expression	[5]
PAH	TTGSVH2	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A2	DTUJPOL	moderate	Genetic Variation	[7]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALM	DE63NYG	Strong	Genetic Variation	[4]
UGP2	DE4U39Y	Strong	Biomarker	[8]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DDIT3	OTI8YKKE	Limited	Biomarker	[1]
ALG9	OT5V9PIR	Strong	Altered Expression	[5]
LGALS7	OTMSVI7R	Strong	Biomarker	[9]
MAP1B	OTVXW089	Strong	Biomarker	[8]
GALT	OTCATU66	Definitive	Autosomal recessive	[10]

References

• [1] The unfolded protein response in lens epithelial cells from galactosemic rat lenses.Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3951-9. doi: 10.1167/iovs.06-0193.
• [2] Crystallin mRNA concentrations and distribution in lens of normal and galactosemic rats. Implications in development of sugar cataracts.Invest Ophthalmol Vis Sci. 1991 Apr;32(5):1638-47.
• [3] 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.
• [4] 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.
• [5] Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.Eur J Hum Genet. 2016 Jul;24(7):976-84. doi: 10.1038/ejhg.2015.254. Epub 2016 Jan 6.
• [6] Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.J Med Screen. 2001;8(3):132-6. doi: 10.1136/jms.8.3.132.
• [7] A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.J Inherit Metab Dis. 2004;27(2):279-80. doi: 10.1023/b:boli.0000028841.00833.f4.
• [8] 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.
• [9] 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.
• [10] 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.