eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glucose-galactose malabsorption | ||||
| Disease ID | 940 |
|---|---|
| Disease | glucose-galactose malabsorption |
| Definition | Glucose-galactose malabsorption is an inherited metabolic disorder characterized by the small intestine's inability to transport and absorb glucose and galactose (simple sugars or monosaccharides). Glucose and galactose have very similar chemical structures, and normally the same transport enzyme provides them with entry into specialized cells in the small intestine where they are absorbed and transferred to other cells. As a result of a mutation on chromosome 22, the transport enzyme does not function properly and the result is glucose-galactose malabsorption. - NORD Reference: NORD |
| Synonym | carbohydrate intolerance complex carbohydrate intolerance congenital glucose-galactose intolerance congenital glucose-galactose malabsorption congenital glucose-galactose malabsorption (disorder) congenital monosaccharide malabsorption ggm glucose galactose malabsorption glucose-galactose malabsorption (disorder) glucose/galactose malabsorption monosaccharide malabsorption |
| Orphanet | |
| OMIM | |
| UMLS | C0268186 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0028754 | obesity | 1 C0011849 | diabetes mellitus | 1 C0085207 | gestational diabetes | 1 C0016470 | food hypersensitivity | 1 C0011991 | diarrhea | 1 C0011847 | diabetes | 1 C0020456 | hyperglycemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SLC5A1 | 22q12.3 |
| Disease ID | 940 |
|---|---|
| Disease | glucose-galactose malabsorption |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0001513 | Obesity | 1 HP:0002014 | Diarrhea | 1 HP:0009800 | gestational diabetes | 1 HP:0003074 | High blood glucose | 1 HP:0000819 | Diabetes mellitus | 1 |
| Disease ID | 940 |
|---|---|
| Disease | glucose-galactose malabsorption |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912668 | 8844006 | 6523 | SLC5A1 | umls:C0268186 | BeFree | Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na(+)-dependent glucose/galactose cotransporter (SGLT1) that accounts for the defect in sugar absorption. | 0.564071628 | 1996 | SLC5A1 | 22 | 32043363 | G | A |
| rs121912668 | NA | 6523 | SLC5A1 | umls:C0268186 | CLINVAR | NA | 0.564071628 | NA | SLC5A1 | 22 | 32043363 | G | A |
| rs121912669 | NA | 6523 | SLC5A1 | umls:C0268186 | CLINVAR | NA | 0.564071628 | NA | SLC5A1 | 22 | 32043364 | A | G |
| rs201799893 | NA | 6523 | SLC5A1 | umls:C0268186 | CLINVAR | NA | 0.564071628 | NA | SLC5A1;LOC105373000 | 22 | 32104793 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 940 |
|---|---|
| Disease | glucose-galactose malabsorption |
| Case | (Waiting for update.) |