Glucose/galactose malabsorption

Preferred Label : Glucose/galactose malabsorption;

Symbol : GGM;

CISMeF acronym : GGM; GM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Monosaccharide malabsorption; GM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intestinal sodium/glucose transporter gene (SLC5A1, 182380.0001);

Laboratory abnormalities : Glucosuria, mild, intermittent; Abnormal glucose oral tolerance test; Glucose breath hydrogen test shows malabsorption of glucose and galactose;

Prefixed ID : #606824;

Details

Origin ID

606824;

UMLS CUI

C0268186;

Currated CISMeF NLP mapping
- Glucose-Galactose malabsorption [MeSH concept]
- Glucose-Galactose malabsorption [MeSH Supplementary Concept]
- Glucose-galactose malabsorption [ICD-11 Subcategory]
- Glucose-galactose malabsorption [MedDRA Preferred Term]
- Glucose-galactose malabsorption [ORDO Disease]
- Glucose-galactose malabsorption (disorder) [SNOMED CT concept]
False automatic mappings
- B variant of hexosaminidase A deficiency, infantile form [ICD-11 More detail]
- B variant of hexosaminidase A deficiency, juvenile form [ICD-11 More detail]
- GM2 gangliosidosis [ICD-11 More detail]
- Germany [NCIt concept]
- Sandhoff disease [ICD-11 More detail]
- The Gambia [NCIt concept]
Genes related to phenotype
- Solute carrier family 5 (sodium/glucose cotransporter), member 1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal oral glucose tolerance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Failure to thrive [HPO term]
- Glycosuria [HPO term]
- Hyperactive bowel sounds [HPO term]
- Hypertonic dehydration [HPO term]
- Malabsorption [HPO term]
- Metabolic acidosis [HPO term]
ORDO concept(s)
- Glucose-galactose malabsorption [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital glucose-galactose malabsorption (disorder) [SNOMED CT concept]
- Glucose-Galactose malabsorption [MeSH Supplementary Concept]
- Glucose-Galactose malabsorption [MeSH concept]
- Glucose-galactose malabsorption [MedDRA Preferred Term]
- Glucose-galactose malabsorption [ORDO Disease]
- Glucose-galactose malabsorption [ICD-11 Subcategory]
- Glucose-galactose malabsorption (disorder) [SNOMED CT concept]
- congenital glucose-galactose malabsorption [SNOMED Notion]

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