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Xu, C. Hirschsprung Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/4110 (accessed on 27 September 2026).
Xu C. Hirschsprung Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/4110. Accessed September 27, 2026.
Xu, Camila. "Hirschsprung Disease" Encyclopedia, https://encyclopedia.pub/entry/4110 (accessed September 27, 2026).
Xu, C. (2020, December 23). Hirschsprung Disease. In Encyclopedia. https://encyclopedia.pub/entry/4110
Xu, Camila. "Hirschsprung Disease." Encyclopedia. Web. 23 December, 2020.
Hirschsprung Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hirschsprung-disease

Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.

genetic conditions

References

  1. Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, CeccheriniI, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM. Contribution of rare andcommon variants determine complex diseases-Hirschsprung disease as a model. DevBiol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019.
  2. Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, SimeoniJ, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelinreceptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet.1996 Mar;5(3):355-7.
  3. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S,Nihoul-Fékété C, Ponder BA, Munnich A. Mutations of the RET proto-oncogene inHirschsprung's disease. Nature. 1994 Jan 27;367(6461):378-80.
  4. Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX,Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, FernandezRM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Functional loss of semaphorin 3C and/orsemaphorin 3D and their epistatic interaction with ret are critical toHirschsprung disease liability. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi:10.1016/j.ajhg.2015.02.014.
  5. Lecerf L, Kavo A, Ruiz-Ferrer M, Baral V, Watanabe Y, Chaoui A, Pingault V,Borrego S, Bondurand N. An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. Hum Mutat. 2014 Mar;35(3):303-7. doi:10.1002/humu.22499.
  6. Natarajan D, Marcos-Gutierrez C, Pachnis V, de Graaff E. Requirement ofsignalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis. Development. 2002Nov;129(22):5151-60.
  7. Pasini B, Borrello MG, Greco A, Bongarzone I, Luo Y, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R, et al. Loss of function effect of RET mutationscausing Hirschsprung disease. Nat Genet. 1995 May;10(1):35-40.
  8. Svensson PJ, Von Tell D, Molander ML, Anvret M, Nordenskjöld A. A heterozygousframeshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung'sdisease. Pediatr Res. 1999 May;45(5 Pt 1):714-7.
  9. Tam PK, Garcia-Barceló M. Genetic basis of Hirschsprung's disease. PediatrSurg Int. 2009 Jul;25(7):543-58. doi: 10.1007/s00383-009-2402-2.
  10. Wallace AS, Anderson RB. Genetic interactions and modifier genes inHirschsprung's disease. World J Gastroenterol. 2011 Dec 7;17(45):4937-44. doi:10.3748/wjg.v17.i45.4937. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 871
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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