congenital sucrase-isomaltase deficiency |
Disease ID | 1434 |
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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 |
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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 |
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Disease | congenital sucrase-isomaltase deficiency |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
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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) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:1) | ||||
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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) | ||||
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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 |
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Disease | congenital sucrase-isomaltase deficiency |
Case | (Waiting for update.) |