KEGG   DISEASE: Hirschsprung disease
Entry
H00910                      Disease                                
Name
Hirschsprung disease
  Subgroup
Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD)
Description
Hirschsprung disease (HSCR) 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 HSCR. 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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the digestive system
   H00910  Hirschsprung disease
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the digestive tract
    LB16  Structural developmental anomalies of large intestine
     H00910  Hirschsprung disease
Related
pathway
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
Gene
(HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
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-11: LB16.1
ICD-10: Q43.1
MeSH: D006627
OMIM: 142623 600155 613711 613712 613870
Reference
  Authors
Mundt E, Bates MD
  Title
Genetics of Hirschsprung disease and anorectal malformations.
  Journal
Semin Pediatr Surg 19:107-17 (2010)
DOI:10.1053/j.sempedsurg.2009.11.015
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)
DOI:10.1053/j.sempedsurg.2003.09.004
Reference
PMID:8114938 (RET)
  Authors
Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, et al.
  Title
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
  Journal
Nature 367:377-8 (1994)
DOI:10.1038/367377a0
Reference
PMID:8001158 (EDNRB)
  Authors
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
  Title
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
  Journal
Cell 79:1257-66 (1994)
DOI:10.1016/0092-8674(94)90016-7
Reference
PMID:8896568 (GDNF)
  Authors
Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A
  Title
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
  Journal
Nat Genet 14:341-4 (1996)
DOI:10.1038/ng1196-341
Reference
PMID:9359047 (EDN3)
  Authors
Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S
  Title
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
  Journal
Eur J Hum Genet 5:247-51 (1997)
Reference
PMID:9915973 (ECE1)
  Authors
Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH
  Title
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
  Journal
Am J Hum Genet 64:304-8 (1999)
DOI:10.1086/302184
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