KEGG   DISEASE: Congenital lactase deficiency
Entry
H00116                      Disease                                
Name
Congenital lactase deficiency;
Disaccharide intolerance II
Description
Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose.
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
     H00116  Congenital lactase deficiency
Pathway
hsa00052  Galactose metabolism
hsa04973  Carbohydrate digestion and absorption
Gene
LCT [HSA:3938] [KO:K01229]
Other DBs
ICD-11: 5C61.61
ICD-10: E73.0
MeSH: C562600
OMIM: 223000 223100
Reference
PMID:16400612
  Authors
Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I
  Title
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
  Journal
Am J Hum Genet 78:339-44 (2006)
DOI:10.1086/500053
Reference
PMID:14616060
  Authors
Swallow DM
  Title
Genetics of lactase persistence and lactose intolerance.
  Journal
Annu Rev Genet 37:197-219 (2003)
DOI:10.1146/annurev.genet.37.110801.143820
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