eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital sucrase-isomaltase deficiency | ||||
| Disease ID | 1434 |
|---|---|
| Disease | congenital sucrase-isomaltase deficiency |
| Definition | characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet. |
| Synonym | congenital sucrose intolerance congenital sucrose isomaltose malabsorption congenital sucrose malabsorption congenital sucrose-isomaltase intolerance congenital sucrose-isomaltase malabsorption congenital sucrose-isomaltose malabsorption csid deficiency of isomaltase deficiency of isomaltase (disorder) deficiency of oligo-1,6-glucosidase deficiency of oligo-1,6-glucosidase (disorder) deficiency of oligo-1,6-glucosidase (disorder) [ambiguous] deficiency of sucrase-isomaltase deficiency of sucrase-isomaltase (disorder) disaccharide intolerance 1 disaccharide intolerance i disaccharide intolerance, 1 intestinal sucrase-a-dextrinase deficiency isomaltase deficiency si deficiency sucrase alpha dextrinase deficiency sucrase isomaltase deficiency sucrase-alpha-dextrinase deficiency sucrase-isomaltase deficiency sucrase-isomaltase deficiency (disorder) sucrase-isomaltase deficiency, congenital sucrose intolerance congenital sucrose intolerance, congenital sucrose-isomaltase malabsorption, congenital sucrose-isomaltose malabsorption, congenital |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C1283620 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1434 |
|---|---|
| Disease | congenital sucrase-isomaltase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0000787 | Renal calculi HP:0003270 | Abdominal distention HP:0002013 | Vomiting HP:0001939 | Laboratory abnormality HP:0002014 | Diarrhea HP:0002024 | Intestinal malabsorption HP:0011848 | Abdominal colic |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1434 |
|---|---|
| Disease | congenital sucrase-isomaltase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912611 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165019732 | T | G |
| rs121912612 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165069101 | T | C |
| rs121912613 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165046869 | A | G |
| rs121912614 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165017621 | C | T |
| rs121912615 | 16329100 | 6476 | SI | umls:C1283620 | UNIPROT | Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. | 0.361900093 | 2006 | SI | 3 | 165046998 | A | C |
| rs121912615 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165046998 | A | C |
| rs121912616 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165021265 | C | T |
| rs267607049 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 165060026 | A | G |
| rs79717168 | NA | 6476 | SI | umls:C1283620 | CLINVAR | NA | 0.361900093 | NA | SI | 3 | 164983015 | A | C |
| rs79717168 | 16329100 | 6476 | SI | umls:C1283620 | UNIPROT | Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. | 0.361900093 | 2006 | SI | 3 | 164983015 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1434 |
|---|---|
| Disease | congenital sucrase-isomaltase deficiency |
| Case | (Waiting for update.) |