KEGG   DISEASE: Lactose intolerance, adult type
Entry
H02575                      Disease                                
Name
Lactose intolerance, adult type
  Subgroup
Lactase persistence
Description
Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults, high levels of lactase activity persist in adulthood. Several lactase persistence alleles in the MCM6 gene have been reported.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C61  Disorders of carbohydrate absorption or transport
     H02575  Lactose intolerance, adult type
Pathway
hsa03030  DNA replication
hsa04110  Cell cycle
Gene
MCM6 [HSA:4175] [KO:K02542]
Other DBs
ICD-11: 5C61.6
MeSH: C562601
OMIM: 223100
Reference
PMID:22826639
  Authors
Mattar R, de Campos Mazo DF, Carrilho FJ
  Title
Lactose intolerance: diagnosis, genetic, and clinical factors.
  Journal
Clin Exp Gastroenterol 5:113-21 (2012)
DOI:10.2147/CEG.S32368
Reference
PMID:11788828
  Authors
Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I
  Title
Identification of a variant associated with adult-type hypolactasia.
  Journal
Nat Genet 30:233-7 (2002)
DOI:10.1038/ng826
Reference
PMID:12915462
  Authors
Olds LC, Sibley E
  Title
Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
  Journal
Hum Mol Genet 12:2333-40 (2003)
DOI:10.1093/hmg/ddg244
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