Details of Disease | DrugMAP

General Information of Disease (ID: DISBFXNW)

Disease Name	Glucose-galactose malabsorption
Synonyms	Complex carbohydrate intolerance; glucose/galactose malabsorption; carbohydrate intolerance of glucose galactose; glucose galactose malabsorption deficiency; monosaccharide malabsorption; GGM; SGLT1 deficiency; glucose-galactose malabsorption
Definition	Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.
Disease Hierarchy	DISGPMUQ: Intestinal disorder DIS8TFL1: Glucose transport disorder DISBFXNW: Glucose-galactose malabsorption
Disease Identifiers	MONDO ID MONDO_0011731 MESH ID C562602 UMLS CUI C0268186 OMIM ID 606824 MedGen ID 78647 Orphanet ID 35710 SNOMED CT ID 190749000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC5A2	TTF8JAT	Limited	Genetic Variation	[1]
TRPV6	TTBK14N	moderate	Biomarker	[2]
SLC5A1	TT2UE56	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A2	DTUJPOL	Strong	Genetic Variation	[4]
SLC5A1	DTOKC04	Definitive	Autosomal recessive	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HHEX	OTLIUVYX	Strong	Biomarker	[6]
SLC5A1	OT0T78JI	Definitive	Autosomal recessive	[5]
------------------------------------------------------------------------------------

References

1	Development of SGLT1 and SGLT2 inhibitors.Diabetologia. 2018 Oct;61(10):2079-2086. doi: 10.1007/s00125-018-4654-7. Epub 2018 Aug 22.
2	Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3?,Fiscaletti M. Alos N
3	Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.Medicine (Baltimore). 2019 Aug;98(33):e16828. doi: 10.1097/MD.0000000000016828.
4	Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.Clin J Am Soc Nephrol. 2010 Jan;5(1):133-41. doi: 10.2215/CJN.04010609. Epub 2009 Nov 5.
5	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6	Hematopoietically expressed homeobox (HHEX) gene polymorphism (rs5015480) is associated with increased risk of gestational diabetes mellitus.Clin Genet. 2017 Jun;91(6):843-848. doi: 10.1111/cge.12875. Epub 2016 Nov 30.