You are using an outdated browser. Please upgrade your browser to improve your experience.

congenital sucrase-isomaltase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.
Uniprot Description Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.
Mondo Term and Equivalent IDs
MONDO:0009114:  congenital sucrase-isomaltase deficiency
DOID:0111633: 
GARD:0006183: 
GARD:0007710: 
MESH:C538139: 
NCIT:C128190: 
Orphanet:35122: 
SCTID:78373000: 
UMLS:C1283620: