KEGG DISEASE: Congenital short bowel syndrome

KEGG

DISEASE: Congenital short bowel syndrome

Entry

H01477                      Disease

Name

Congenital short bowel syndrome

Supergrp

Short bowel syndrome [DS:H01469]

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
  Digestive system disorders of fetus or newborn
   KB89  Neonatal malabsorption syndromes
    H01477  Congenital short bowel syndrome

Gene

CLMP [HSA:79827] [KO:K06789]

Comment

Acquired small bowel syndrome is described in H01469.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM

Title

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

Journal

Biochim Biophys Acta 1852:2352-61 (2015)
DOI:10.1016/j.bbadis.2015.08.007

Reference

Authors

Wales PW, Christison-Lagay ER

Title

Short bowel syndrome: epidemiology and etiology.

Journal

Semin Pediatr Surg 19:3-9 (2010)
DOI:10.1053/j.sempedsurg.2009.11.001

Reference

Authors

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

Title

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

Journal

Gastroenterology 142:453-462.e3 (2012)
DOI:10.1053/j.gastro.2011.11.038

LinkDB

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