Lactose intolerance, adult type

Preferred Label : Lactose intolerance, adult type;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypolactasia, adult type; Adult lactase deficiency; Disaccharide intolerance III;

Included titles and symbols : Lactase persistence;

Description : In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by noncoding mutation in cis-acting lactase regulatory elements located in introns of the minichromosome maintenance deficient (mis5, S. pombe) 6 gene (MCM6, 601806.0001);

Laboratory abnormalities : Lactase deficiency;

Prefixed ID : #223100;

Details

Origin ID

223100;

UMLS CUI

C0268181;

Automatic exact mappings (from CISMeF team)
- Lactase non-persistence in adulthood [ORDO Disease]
- Nonpersistence of intestinal lactase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- lactose intolerance, adult type [MeSH concept]
- lactose intolerance, adult type [MeSH Supplementary Concept]
DO Cross reference
- lactose intolerance [DO Concept]
Genes related to phenotype
- Minichromosome maintenance complex component 6 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased small intestinal mucosa lactase level [HPO term]
- Diarrhea [HPO term]
- Flatulence [HPO term]
- Juvenile onset [HPO term]
- Lactose intolerance [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Lactase non-persistence in adulthood [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nonpersistence of intestinal lactase (disorder) [SNOMED CT concept]
- lactose intolerance, adult type [MeSH Supplementary Concept]
- lactose intolerance, adult type [MeSH concept]
- nonpersistence of intestinal lactase [SNOMED Notion]

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