Megacystis microcolon intestinal hypoperistalsis syndrome

Common Name(s)

Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome is a congenital disorder that causes decreased muscle tone in the urinary tract and bowel. As a result food, fluid, and air can not be passed through the body normally. The syndrome can be challenging to treat and the development of serious complications, such as sepsis and kidney failure is not uncommon.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megacystis microcolon intestinal hypoperistalsis syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Megacystis microcolon intestinal hypoperistalsis syndrome" returned 19 free, full-text research articles on human participants. First 3 results:

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn.
 

Author(s): Saeid Tarlan, Abolfazl Mahyar, Victoria Chegini, Venus Chegini

Journal: Acta Med Iran. 2015 Aug;53(8):518-22.

 

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. ...

Last Updated: 7 Nov 2015

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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
 

Author(s): Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, Steven M Harrison, Linda A Baker, Françoise Couture, Isabelle Thiffault, Reda Ouazzani, Mark E Samuels, Grant A Mitchell, Guy A Rouleau, Jacques L Michaud, Jean-François Soucy

Journal: Eur. J. Hum. Genet.. 2015 Sep;23(9):1266-8.

 

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS. ...

Last Updated: 13 Aug 2015

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
 

Author(s): Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, , Richard A Gibbs, James R Lupski, Arthur Beaudet

Journal:

 

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this ...

Last Updated: 28 Mar 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Megacystis microcolon intestinal hypoperistalsis syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Antenatal discovery of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) at 12 weeks gestation].
 

Author(s): F Cuillier, F Cartault, J-P Rivière, J Tuaillon

Journal: J Gynecol Obstet Biol Reprod (Paris). 2004 Sep;33(5):444-9.

 

Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications. We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a female infant. The antenatal scan revealed abnormalities, but the diagnosis was not established until ...

Last Updated: 13 Oct 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.