KEGG   DISEASE: 成人型乳糖不耐症
エントリ  
H02575                                                             
名称    
成人型乳糖不耐症
  下位グループ
ラクターゼ活性持続症
概要    
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.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   代謝物質の吸収または輸送の疾患
    5C61  糖質の吸収または輸送の疾患
     H02575  成人型乳糖不耐症
パスウェイ 
hsa03030  DNA replication
hsa04110  Cell cycle
病因遺伝子 
MCM6 [HSA:4175] [KO:K02542]
リンク   
ICD-11: 5C61.6
MeSH: C562601
OMIM: 223100
文献    
  著者
Mattar R, de Campos Mazo DF, Carrilho FJ
  タイトル
Lactose intolerance: diagnosis, genetic, and clinical factors.
  雑誌
Clin Exp Gastroenterol 5:113-21 (2012)
DOI:10.2147/CEG.S32368
文献    
  著者
Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I
  タイトル
Identification of a variant associated with adult-type hypolactasia.
  雑誌
Nat Genet 30:233-7 (2002)
DOI:10.1038/ng826
文献    
  著者
Olds LC, Sibley E
  タイトル
Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.
  雑誌
Hum Mol Genet 12:2333-40 (2003)
DOI:10.1093/hmg/ddg244
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