KEGG   DISEASE: 先天性短腸症候群
エントリ  
H01477                      Disease                                
名称    
先天性短腸症候群
  上位グループ
短腸症候群 [DS:H01469]
概要    
Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal length rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsackie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 19 周産期に発生した病態
  胎児または新生児の消化器系疾患
   KB89  新生児吸収不良症候群
    H01477  先天性短腸症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセスes
  nt06546  IgSF CAM シグナリング
   H01477  先天性短腸症候群
パスウェイ 
hsa04517  IGSF CAM signaling
ネットワーク
nt06546 IgSF CAM signaling
病因遺伝子 
CLMP [HSA:79827] [KO:K06789]
コメント  
Acquired small bowel syndrome is described in H01469.
リンク   
ICD-11: KB89.1
MeSH: D007418
OMIM: 615237
文献    
PMID:26282049
  著者
van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM
  タイトル
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.
  雑誌
Biochim Biophys Acta 1852:2352-61 (2015)
DOI:10.1016/j.bbadis.2015.08.007
文献    
PMID:20123268
  著者
Wales PW, Christison-Lagay ER
  タイトル
Short bowel syndrome: epidemiology and etiology.
  雑誌
Semin Pediatr Surg 19:3-9 (2010)
DOI:10.1053/j.sempedsurg.2009.11.001
文献    
PMID:22155368
  著者
Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM
  タイトル
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
  雑誌
Gastroenterology 142:453-462.e3 (2012)
DOI:10.1053/j.gastro.2011.11.038
LinkDB    

» English version

DBGET integrated database retrieval system