KEGG   DISEASE: H00910Help
Entry
H00910                      Disease                                

Name
Hirschsprung disease (HD)
Description
Hirschsprung disease (HD) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying distances. Recently, several genes have been identified to be associated with HD. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells.
Category
Developmental disorder; Digestive disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Gene
RET [HSA:5979] [KO:K05126]
EDNRB [HSA:1910] [KO:K04198]
GDNF [HSA:2668] [KO:K05452]
EDN3 [HSA:1908] [KO:K05227]
Comment
Following syndromes are Hirschsprung-like phenotypes.
Bardet-Biedl syndrome [DS:H00418]
Shprintzen-Goldberg syndrome [DS:H00659]
Waardenburg syndrome [DS:H00759]
Mowat-Wilson syndrome [DS:H00908]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Mundt E, Bates MD
  Title
Genetics of Hirschsprung disease and anorectal malformations.
  Journal
Semin Pediatr Surg 19:107-17 (2010)
Reference
  Authors
Puri P, Shinkai T
  Title
Pathogenesis of Hirschsprung's disease and its variants: recent progress.
  Journal
Semin Pediatr Surg 13:18-24 (2004)

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