KEGG DISEASE: Hirschsprung disease

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00910  Hirschsprung disease
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00910  Hirschsprung disease

Pathway

hsa04010

MAPK signaling pathway

Network

nt06325 Hormone/cytokine signaling
nt06526 MAPK signaling

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

PMID:20307847

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

PMID:14765367

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

LinkDB

» Japanese version

DBGET integrated database retrieval system