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Xu, C. Intestinal Pseudo-Obstruction. Encyclopedia. Available online: https://encyclopedia.pub/entry/4217 (accessed on 21 September 2026).
Xu C. Intestinal Pseudo-Obstruction. Encyclopedia. Available at: https://encyclopedia.pub/entry/4217. Accessed September 21, 2026.
Xu, Camila. "Intestinal Pseudo-Obstruction" Encyclopedia, https://encyclopedia.pub/entry/4217 (accessed September 21, 2026).
Xu, C. (2020, December 23). Intestinal Pseudo-Obstruction. In Encyclopedia. https://encyclopedia.pub/entry/4217
Xu, Camila. "Intestinal Pseudo-Obstruction." Encyclopedia. Web. 23 December, 2020.
Intestinal Pseudo-Obstruction
Edit

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.

genetic conditions

References

  1. Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, BallabioA, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronicidiopathic intestinal pseudo-obstruction with central nervous system involvement.Am J Hum Genet. 2007 Apr;80(4):751-8.
  2. Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL,Soucy JF. A homozygous loss-of-function variant in MYH11 in a case withmegacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256.
  3. Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, RosenblattJ, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am JHum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011.
  4. Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q,Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W,Alves MM, Hofstra RM, Miano JM. Loss of LMOD1 impairs smooth musclecytocontractility and causes megacystis microcolon intestinal hypoperistalsissyndrome in humans and mice. Proc Natl Acad Sci U S A. 2017 Mar28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114.
  5. Iida H, Ohkubo H, Inamori M, Nakajima A, Sato H. Epidemiology and clinicalexperience of chronic intestinal pseudo-obstruction in Japan: a nationwideepidemiologic survey. J Epidemiol. 2013;23(4):288-94.
  6. Kapoor S. Kawasaki's disease: an often overlooked cause of intestinalpseudo-obstruction in children. Virchows Arch. 2015 Nov;467(5):619-20. doi:10.1007/s00428-015-1844-2.
  7. Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M,Loren DJ. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol. 2010 Oct;34(10):1528-43. doi: 10.1097/PAS.0b013e3181f0ae47.
  8. Klar J, Raykova D, Gustafson E, Tóthová I, Ameur A, Wanders A, Dahl N.Phenotypic expansion of visceral myopathy associated with ACTG2 tandem basesubstitution. Eur J Hum Genet. 2015 Dec;23(12):1679-83. doi:10.1038/ejhg.2015.49.
  9. Lauro A, De Giorgio R, Pinna AD. Advancement in the clinical management ofintestinal pseudo-obstruction. Expert Rev Gastroenterol Hepatol. 2015Feb;9(2):197-208. doi: 10.1586/17474124.2014.940317.
  10. Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG,Lappalainen P, Aaltonen LA, Tuupanen S. Segregation of a missense variant inenteric smooth muscle actin γ-2 with autosomal dominant familial visceralmyopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi:10.1053/j.gastro.2012.08.045.
  11. Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P,Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R,Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Variants ofthe ACTG2 gene correlate with degree of severity and presence of megacystis inchronic intestinal pseudo-obstruction. Eur J Hum Genet. 2016 Aug;24(8):1211-5.doi: 10.1038/ejhg.2015.275.
  12. Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2Gene. J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):384-387. doi:10.1097/MPG.0000000000001608.
  13. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, ProbstFJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Centerfor Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underliemegacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258.
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