H00116 | |
H number | H00116 |
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 |
Network | - |
Gene | LCT; lactase [HSA:3938] [KO:K01229] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 |