congenital sucrase-isomaltase deficiency
Findings
No curated finding names congenital sucrase-isomaltase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
Definition from the Mondo Disease Ontology (MONDO:0009114), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- FlatulenceHPOHP:0033589
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
- NauseaHPOHP:0002018
- Frequent (30% to 79% of cases)
- Poor appetite
Show the remaining 2
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SIHGNC:10856
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (6)
- congenital sucrase-isomaltase deficiency with minimal starch tolerance
- congenital sucrase-isomaltase deficiency with starch and lactose intolerance
- congenital sucrase-isomaltase deficiency with starch intolerance
- congenital sucrase-isomaltase deficiency without starch intolerance
- congenital sucrase-isomaltase deficiency without sucrose intolerance
- global disaccharide intolerance
Other names
5 names
Resolves to: congenital sucrase-isomaltase deficiency
- Also called
- congenital sucrose intoleranceCSIDdisaccharide intolerancegenetic sucrase-isomaltose malabsorptionsucrase-isomaltase deficiency