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 21 free, full-text research articles on human participants. First 3 results:

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
 

Author(s): Danny Halim, Erwin Brosens, Françoise Muller, Michael F Wangler, Arthur L Beaudet, James R Lupski, Zeynep H Coban Akdemir, Michael Doukas, Hans J Stoop, Bianca M de Graaf, Rutger W W Brouwer, Wilfred F J van Ijcken, Jean-François Oury, Jonathan Rosenblatt, Alan J Burns, Dick Tibboel, Robert M W Hofstra, Maria M Alves

Journal: Am. J. Hum. Genet.. 2017 Jul;101(1):123-129.

 

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11, and LMOD1. However, for approximately ...

Last Updated: 31 Dec 1969

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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
 

Author(s): Danny Halim, Michael P Wilson, Daniel Oliver, Erwin Brosens, Joke B G M Verheij, Yu Han, Vivek Nanda, Qing Lyu, Michael Doukas, Hans Stoop, Rutger W W Brouwer, Wilfred F J van IJcken, Orazio J Slivano, Alan J Burns, Christine K Christie, Karen L de Mesy Bentley, Alice S Brooks, Dick Tibboel, Suowen Xu, Zheng Gen Jin, Tono Djuwantono, Wei Yan, Maria M Alves, Robert M W Hofstra, Joseph M Miano

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 03;114(13):E2739-E2747.

 

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Reviews from the PubMed Database

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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