Intestinal pseudo-obstruction
Last updated 12 Feb 2026
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Intestinal pseudo-obstruction is a condition characterised by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).
Description
Intestinal pseudo-obstruction is a condition characterised by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).
Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.
Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other, additional features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.
When intestinal pseudo-obstruction occurs without additional features, it is called primary or idiopathic intestinal pseudo-obstruction. When the disorder occurs along with other signs and symptoms or as a complication of another health condition, it is called secondary intestinal pseudo-obstruction. The condition can occur once in a while (acute) or steadily (chronic).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Chronic idiopathic intestinal pseudo-obstruction
CIIP
CIPO
Congenital short bowel syndrome
Enteric neuropathy
Familial visceral myopathy
Familial visceral neuropathy
IPO
Paralytic ileus
Pseudo-obstruction of intestine
Pseudointestinal obstruction syndrome
Pseudoobstructive syndrome
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Further reading and references
- Intestinal pseudo-obstruction; MedlinePlus, National Library of Medicine.
- Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007 Apr;80(4):751-8. doi: 10.1086/513321. Epub 2007 Feb 26.
- 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 with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19.
- 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, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.
- 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 muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14.
- Iida H, Ohkubo H, Inamori M, Nakajima A, Sato H. Epidemiology and clinical experience of chronic intestinal pseudo-obstruction in Japan: a nationwide epidemiologic survey. J Epidemiol. 2013;23(4):288-94. doi: 10.2188/jea.je20120173.
- Kapoor S. Kawasaki's disease: an often overlooked cause of intestinal pseudo-obstruction in children. Virchows Arch. 2015 Nov;467(5):619-20. doi: 10.1007/s00428-015-1844-2. Epub 2015 Sep 19. No abstract available.
- 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.
- Klar J, Raykova D, Gustafson E, Tothova I, Ameur A, Wanders A, Dahl N. Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. Eur J Hum Genet. 2015 Dec;23(12):1679-83. doi: 10.1038/ejhg.2015.49. Epub 2015 Mar 18.
- Lauro A, De Giorgio R, Pinna AD. Advancement in the clinical management of intestinal pseudo-obstruction. Expert Rev Gastroenterol Hepatol. 2015 Feb;9(2):197-208. doi: 10.1586/17474124.2014.940317. Epub 2014 Jul 14.
- Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S. Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.
- 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 of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.
- Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):384-387. doi: 10.1097/MPG.0000000000001608.
- Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, 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 Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
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