CSID
MCID: SCR037
MIFTS: 49
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Sucrase-Isomaltase Deficiency, Congenital (CSID)
Categories:
Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Sucrase-Isomaltase Deficiency, Congenital:
Characteristics:Orphanet epidemiological data:58
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; HPO:31
sucrase-isomaltase deficiency, congenital:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Gastrointestinal diseases Mental diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates).Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.
MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to diarrhea and lactose intolerance. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase), and among its related pathways/superpathways are Starch and sucrose metabolism and Glycosaminoglycan metabolism. The drugs Salmon calcitonin and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include small intestine, kidney and liver, and related phenotypes are diarrhea and vomiting Disease Ontology : 12 A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has material basis in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. GARD : 20 Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene. KEGG : 36 Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch. UniProtKB/Swiss-Prot : 73 Congenital sucrase-isomaltase deficiency: 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. Wikipedia : 74 Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which... more...
More information from OMIM:
222900
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Human phenotypes related to Sucrase-Isomaltase Deficiency, Congenital:58 31 (show all 7)
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Drugs for Sucrase-Isomaltase Deficiency, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Cochrane evidence based reviews: sucrase-isomaltase deficiency, congenital |
MalaCards organs/tissues related to Sucrase-Isomaltase Deficiency, Congenital:40
Small Intestine,
Kidney,
Liver
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Articles related to Sucrase-Isomaltase Deficiency, Congenital:(show top 50) (show all 116)
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ClinVar genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:6 (show top 50) (show all 161)
UniProtKB/Swiss-Prot genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:73 (show all 11)
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Search
GEO
for disease gene expression data for Sucrase-Isomaltase Deficiency, Congenital.
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Pathways related to Sucrase-Isomaltase Deficiency, Congenital according to KEGG:36
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Cellular components related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:
Biological processes related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:
Molecular functions related to Sucrase-Isomaltase Deficiency, Congenital according to GeneCards Suite gene sharing:
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