Details of Disease | DrugMAP

General Information of Disease (ID: DIS1477Q)

Disease Name	Congenital sucrase-isomaltase deficiency
Synonyms	sucrose isomaltose enzyme deficiency; disaccharide intolerance, 1; sucrose intolerance, congenital; intestinal sucrase-a-dextrinase deficiency; sucrase-isomaltase deficiency, congenital; disaccharide intolerance i; congenital sucrose-isomaltase malabsorption; sucrose-isomaltose malabsorption, congenital; invertase deficiency; congenital sucrose-isomaltase intolerance; sucrose-isomaltase malabsorption, congenital; congenital sucrose malabsorption; sucrase-alpha-dextrinase deficiency; disaccharide intolerance 1; SI deficiency; sucrose intolerance congenital; disaccharide intolerance; CSID; genetic sucrase-isomaltose malabsorption; congenital sucrase-isomaltose malabsorption; congenital sucrase-isomaltase deficiency; congenital sucrose intolerance; sucrase-isomaltase deficiency
Definition	A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
Disease Hierarchy	DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption DIS390XQ: Intestinal disaccharidase deficiency DIS1477Q: Congenital sucrase-isomaltase deficiency
Disease Identifiers	MONDO ID MONDO_0009114 MESH ID C538139 UMLS CUI C1283620 OMIM ID 222900 MedGen ID 220924 Orphanet ID 35122 SNOMED CT ID 360854006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Strong	Autosomal recessive	[1]
SI	DE5EO4Y	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SI	OTUP724T	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.Gut. 2018 Feb;67(2):263-270. doi: 10.1136/gutjnl-2016-312456. Epub 2016 Nov 21.