LP189692-9
SI gene
Active
Description
The SI gene is located on chromosome 3q26.1 and encodes sucrase-isomaltase, an enzyme located in the small intestine brush-border membrane that catalyzes the hydrolysis of dietary sucrose and some of the products of starch digestion. Mutations in the SI gene are responsible for congenital sucrase-isomaltase deficiency (CSID), a disorder characterized by secretory osmotic diarrhea and failure to thrive due to the malabsorption of sucrose and maltose. Different SI gene mutations result in different phenotypes depending on whether the mutation disrupts enzyme transport or function. Infants can present with severe diarrhea and failure to thrive, toddlers and children may have chronic diarrhea without failure to thrive, and adults may present with symptoms of irritable bowel syndrome. CSID is primarily treated with dietary restriction, and adjuvant enzyme replacement therapy has also been shown to be effective. [OMIM: 222900] CSID follows an autosomal recessive inheritance pattern and the prevalence is approximately 1 in 5,000 people of European descent and as high as 1 in 20 people in the native populations of Greenland, Alaska, and Canada. [MedlinePlus Condition: congenital-sucrase-isomaltase-deficiency] Source: Regenstrief LOINC, OMIM: 222900
Basic Part Properties
- Part Name
- SI gene
- Part Display Name
- SI gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-28
- Construct for LOINC Short Name
- SI gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SI 基因 Synonyms: 蔗糖酶-异麦芽糖酶 (Alpha-葡萄糖苷酶); |
| es-ES | Spanish (Spain) | Gen SI |
| it-IT | Italian (Italy) | SI, gene Synonyms: Gene SI |
| tr-TR | Turkish (Turkey) | SI geni |
| nl-NL | Dutch (Netherlands) | SI-gen Synonyms: SI gen |
| fr-FR | French (France) | SI gène |
| pl-PL | Polish (Poland) | SI gen Synonyms: Gen SI |
| el-GR | Greek (Greece) | Γονίδιο SI Synonyms: Γονίδιο SI |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://