Congenital sucrase-isomaltase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DISACCHARIDE INTOLERANCE I SI DEFICIENCY SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL SUCROSE INTOLERANCE, CONGENITAL CSID Disaccharide intolerance Congenital sucrose intolerance Congenital sucrase-isomaltose malabsorption |
| Number of Symptoms | 14 |
| OrphanetNr: | 35122 |
| OMIM Id: |
222900
|
| ICD-10: |
E74.3 |
| UMLs: |
C1283620 |
| MeSH: |
C538139 |
| MedDRA: |
10066387 |
| Snomed: |
78373000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 20 |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital intestinal disease due to an enzymatic defect
-Rare gastroenterologic disease -Rare genetic disease Disorder of carbohydrate absorption and transport -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000787) | Nephrolithiasis | 5436545 | IBIS | 78 / 7739 | ||
|
|
(HPO:0000121) | Nephrocalcinosis | 12014995 | IBIS | 57 / 7739 | ||
|
|
(HPO:0002027) | Abdominal pain | Frequent [IBIS] | 8648527; 23103658 | IBIS | 184 / 7739 | |
|
|
(HPO:0002017) | Nausea and vomiting | Frequent [IBIS] | 23103658 | IBIS | 134 / 7739 | |
|
|
(HPO:0002028) | Chronic diarrhea | 24433566; 23103658 | IBIS | 51 / 7739 | ||
|
|
(HPO:0002024) | Malabsorption | 4020571 | IBIS | 142 / 7739 | ||
|
|
(HPO:0002014) | Diarrhea | Very frequent [IBIS] | 8648527; 23103658 | IBIS | 225 / 7739 | |
|
|
(HPO:0001508) | Failure to thrive | Frequent [IBIS] | 4020571; 23103658 | IBIS | 454 / 7739 | |
|
|
(HPO:0008250) | Infantile hypercalcemia | 12014995 | IBIS | 3 / 7739 | ||
|
|
(HPO:0011013) | Abnormality of carbohydrate metabolism/homeostasis | 23103658 | IBIS | 2 / 7739 | ||
|
|
(OMIM) | Sucrase-isomerase deficiency | 8648527 | IBIS | 1 / 7739 | ||
|
|
(MedDRA:10016770) | Flatulence, bloating and distension | Frequent [IBIS] | 23103658 | IBIS | 1 / 7739 | |
|
|
(MedDRA:10012444) | Dermatitis diaper | Frequent [IBIS] | 23103658 | IBIS | 1 / 7739 | |
|
|
(OMIM) | Disaccharide intolerance | 8648527 | IBIS | 1 / 7739 |
Associated genes:
| SI; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
A deficiency of sucrase-isomaltase, an integral protein of the small intestine brush-border membrane responsible for catalyzing the hydrolysis of dietary sucrose and some of the products of starch digestion, results in osmotic diarrhea when the disaccharide is ingested, ... |
| Molecular genetics OMIM |
In a patient with CSID, Ouwendijk et al. (1996) identified a homozygous mutation in the SI gene (Q1098P; 609845.0001). Jacob et al. (2000) identified an L340P mutation (609845.0002) that resulted in an unusual intracellular cleavage of ... |
| Population genetics OMIM |
Peterson and Herber (1967) found that intestinal sucrase deficiency is a cause of diarrhea in adults and has a frequency of almost 0.2%. According to McNair et al. (1972), 10% of Greenland Eskimos have sucrose intolerance and the ... |