636 lines
105 KiB
Text
636 lines
105 KiB
Text
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" class="no-js no-jr">
|
|
<head>
|
|
<!-- For pinger, set start time and add meta elements. -->
|
|
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
|
|
|
<!-- Logger begin -->
|
|
<meta name="ncbi_db" content="books">
|
|
<meta name="ncbi_pdid" content="book-part">
|
|
<meta name="ncbi_acc" content="NBK540960">
|
|
<meta name="ncbi_domain" content="gene">
|
|
<meta name="ncbi_report" content="reader">
|
|
<meta name="ncbi_type" content="fulltext">
|
|
<meta name="ncbi_objectid" content="">
|
|
<meta name="ncbi_pcid" content="/NBK540960/?report=reader">
|
|
<meta name="ncbi_pagename" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview - GeneReviews® - NCBI Bookshelf">
|
|
<meta name="ncbi_bookparttype" content="chapter">
|
|
<meta name="ncbi_app" content="bookshelf">
|
|
<!-- Logger end -->
|
|
|
|
<!--component id="Page" label="meta"/-->
|
|
<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview - GeneReviews® - NCBI Bookshelf</title>
|
|
<meta charset="utf-8">
|
|
<meta name="apple-mobile-web-app-capable" content="no">
|
|
<meta name="viewport" content="initial-scale=1,minimum-scale=1,maximum-scale=1,user-scalable=no">
|
|
<meta name="jr-col-layout" content="auto">
|
|
<meta name="jr-prev-unit" content="/books/n/gene/mcad/?report=reader">
|
|
<meta name="jr-next-unit" content="/books/n/gene/mlc/?report=reader">
|
|
<meta name="bk-toc-url" content="/books/n/gene/?report=toc">
|
|
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE">
|
|
<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
|
|
<meta name="citation_title" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview">
|
|
<meta name="citation_publisher" content="University of Washington, Seattle">
|
|
<meta name="citation_date" content="2024/08/01">
|
|
<meta name="citation_author" content="Lusine Ambartsumyan">
|
|
<meta name="citation_pmid" content="31070878">
|
|
<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK540960/">
|
|
<meta name="citation_keywords" content="Berdon Syndrome">
|
|
<meta name="citation_keywords" content="MMHS">
|
|
<meta name="citation_keywords" content="Berdon Syndrome">
|
|
<meta name="citation_keywords" content="Actin, gamma-enteric smooth muscle">
|
|
<meta name="citation_keywords" content="Leiomodin-1">
|
|
<meta name="citation_keywords" content="Myosin light chain kinase, smooth muscle">
|
|
<meta name="citation_keywords" content="Myosin regulatory light polypeptide 9">
|
|
<meta name="citation_keywords" content="Myosin-11">
|
|
<meta name="citation_keywords" content="Phosducin-like protein 3">
|
|
<meta name="citation_keywords" content="Plasma membrane calcium-transporting ATPase 4">
|
|
<meta name="citation_keywords" content="ACTG2">
|
|
<meta name="citation_keywords" content="ATP2B4">
|
|
<meta name="citation_keywords" content="LMOD1">
|
|
<meta name="citation_keywords" content="MYH11">
|
|
<meta name="citation_keywords" content="MYL9">
|
|
<meta name="citation_keywords" content="MYLK">
|
|
<meta name="citation_keywords" content="PDCL3">
|
|
<meta name="citation_keywords" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome">
|
|
<meta name="citation_keywords" content="Overview">
|
|
<link rel="schema.DC" href="http://purl.org/DC/elements/1.0/">
|
|
<meta name="DC.Title" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview">
|
|
<meta name="DC.Type" content="Text">
|
|
<meta name="DC.Publisher" content="University of Washington, Seattle">
|
|
<meta name="DC.Contributor" content="Lusine Ambartsumyan">
|
|
<meta name="DC.Date" content="2024/08/01">
|
|
<meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK540960/">
|
|
<meta name="description" content="The purpose of this overview is to:">
|
|
<meta name="og:title" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview">
|
|
<meta name="og:type" content="book">
|
|
<meta name="og:description" content="The purpose of this overview is to:">
|
|
<meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK540960/">
|
|
<meta name="og:site_name" content="NCBI Bookshelf">
|
|
<meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png">
|
|
<meta name="twitter:card" content="summary">
|
|
<meta name="twitter:site" content="@ncbibooks">
|
|
<meta name="bk-non-canon-loc" content="/books/n/gene/mmihs-ov/?report=reader">
|
|
<link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK540960/">
|
|
<link href="https://fonts.googleapis.com/css?family=Archivo+Narrow:400,700,400italic,700italic&subset=latin" rel="stylesheet" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/libs.min.css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/jr.min.css">
|
|
<meta name="format-detection" content="telephone=no">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css//books_print.min.css" type="text/css" media="print">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_reader.min.css" type="text/css">
|
|
<style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style>
|
|
|
|
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico">
|
|
<meta name="ncbi_phid" content="CE8E17167C885C3100000000001C001A.m_5">
|
|
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3849091.css"></head>
|
|
<body>
|
|
<!-- Book content! -->
|
|
|
|
|
|
<div id="jr" data-jr-path="/corehtml/pmc/jatsreader/ptpmc_3.22/"><div class="jr-unsupported"><table class="modal"><tr><td><span class="attn inline-block"></span><br />Your browser does not support the NLM PubReader view.<br />Go to <a href="/pmc/about/pr-browsers/">this page</a> to see a list of supported browsers<br />or return to the <br /><a href="/books/NBK540960/?report=classic">regular view</a>.</td></tr></table></div><div id="jr-ui" class="hidden"><nav id="jr-head"><div class="flexh tb"><div id="jr-tb1"><a id="jr-links-sw" class="hidden" title="Links"><svg xmlns="http://www.w3.org/2000/svg" version="1.1" x="0px" y="0px" viewBox="0 0 70.6 85.3" style="enable-background:new 0 0 70.6 85.3;vertical-align:middle" xml:space="preserve" width="24" height="24">
|
|
<style type="text/css">.st0{fill:#939598;}</style>
|
|
<g>
|
|
<path class="st0" d="M36,0C12.8,2.2-22.4,14.6,19.6,32.5C40.7,41.4-30.6,14,35.9,9.8"></path>
|
|
<path class="st0" d="M34.5,85.3c23.2-2.2,58.4-14.6,16.4-32.5c-21.1-8.9,50.2,18.5-16.3,22.7"></path>
|
|
<path class="st0" d="M34.7,37.1c66.5-4.2-4.8-31.6,16.3-22.7c42.1,17.9,6.9,30.3-16.4,32.5h1.7c-66.2,4.4,4.8,31.6-16.3,22.7 c-42.1-17.9-6.9-30.3,16.4-32.5"></path>
|
|
</g>
|
|
</svg> Books</a></div><div class="jr-rhead f1 flexh"><div class="head"><a href="/books/n/gene/mcad/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="body"><div class="t">Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview</div><div class="j">GeneReviews® [Internet]</div></div><div class="tail"><a href="/books/n/gene/mlc/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></div><div id="jr-tb2"><a id="jr-bkhelp-sw" class="btn wsprkl hidden" title="Help with NLM PubReader">?</a><a id="jr-help-sw" class="btn wsprkl hidden" title="Settings and typography in NLM PubReader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512" preserveAspectRatio="none"><path d="M462,283.742v-55.485l-29.981-10.662c-11.431-4.065-20.628-12.794-25.274-24.001 c-0.002-0.004-0.004-0.009-0.006-0.013c-4.659-11.235-4.333-23.918,0.889-34.903l13.653-28.724l-39.234-39.234l-28.72,13.652 c-10.979,5.219-23.68,5.546-34.908,0.889c-0.005-0.002-0.01-0.003-0.014-0.005c-11.215-4.65-19.933-13.834-24-25.273L283.741,50 h-55.484l-10.662,29.981c-4.065,11.431-12.794,20.627-24.001,25.274c-0.005,0.002-0.009,0.004-0.014,0.005 c-11.235,4.66-23.919,4.333-34.905-0.889l-28.723-13.653l-39.234,39.234l13.653,28.721c5.219,10.979,5.545,23.681,0.889,34.91 c-0.002,0.004-0.004,0.009-0.006,0.013c-4.649,11.214-13.834,19.931-25.271,23.998L50,228.257v55.485l29.98,10.661 c11.431,4.065,20.627,12.794,25.274,24c0.002,0.005,0.003,0.01,0.005,0.014c4.66,11.236,4.334,23.921-0.888,34.906l-13.654,28.723 l39.234,39.234l28.721-13.652c10.979-5.219,23.681-5.546,34.909-0.889c0.005,0.002,0.01,0.004,0.014,0.006 c11.214,4.649,19.93,13.833,23.998,25.271L228.257,462h55.484l10.595-29.79c4.103-11.538,12.908-20.824,24.216-25.525 c0.005-0.002,0.009-0.004,0.014-0.006c11.127-4.628,23.694-4.311,34.578,0.863l28.902,13.738l39.234-39.234l-13.66-28.737 c-5.214-10.969-5.539-23.659-0.886-34.877c0.002-0.005,0.004-0.009,0.006-0.014c4.654-11.225,13.848-19.949,25.297-24.021 L462,283.742z M256,331.546c-41.724,0-75.548-33.823-75.548-75.546s33.824-75.547,75.548-75.547 c41.723,0,75.546,33.824,75.546,75.547S297.723,331.546,256,331.546z"></path></svg></a><a id="jr-fip-sw" class="btn wsprkl hidden" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-rtoc-sw" class="btn wsprkl hidden" title="Table of Contents"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,20h10v8H20V20zM36,20h44v8H36V20zM20,37.33h10v8H20V37.33zM36,37.33h44v8H36V37.33zM20,54.66h10v8H20V54.66zM36,54.66h44v8H36V54.66zM20,72h10v8 H20V72zM36,72h44v8H36V72z"></path></svg></a></div></div></nav><nav id="jr-dash" class="noselect"><nav id="jr-dash" class="noselect"><div id="jr-pi" class="hidden"><a id="jr-pi-prev" class="hidden" title="Previous page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a><div class="pginfo">Page <i class="jr-pg-pn">0</i> of <i class="jr-pg-lp">0</i></div><a id="jr-pi-next" class="hidden" title="Next page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div><div id="jr-is-tb"><a id="jr-is-sw" class="btn wsprkl hidden" title="Switch between Figures/Tables strip and Progress bar"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><rect x="10" y="40" width="20" height="20"></rect><rect x="40" y="40" width="20" height="20"></rect><rect x="70" y="40" width="20" height="20"></rect></svg></a></div><nav id="jr-istrip" class="istrip hidden"><a id="jr-is-prev" href="#" class="hidden" title="Previous"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M80,40 60,65 80,90 70,90 50,65 70,40z M50,40 30,65 50,90 40,90 20,65 40,40z"></path><text x="35" y="25" textLength="60" style="font-size:25px">Prev</text></svg></a><a id="jr-is-next" href="#" class="hidden" title="Next"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,40 40,65 20,90 30,90 50,65 30,40z M50,40 70,65 50,90 60,90 80,65 60,40z"></path><text x="15" y="25" textLength="60" style="font-size:25px">Next</text></svg></a></nav><nav id="jr-progress"></nav></nav></nav><aside id="jr-links-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">NCBI Bookshelf</div></div><div class="cnt lol f1"><a href="/books/">Home</a><a href="/books/browse/">Browse All Titles</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://www.facebook.com/sharer/sharer.php?u=https://www.ncbi.nlm.nih.gov/books/NBK540960/"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24" preserveAspectRatio="none"><g><path d="M 17.996,32L 12,32 L 12,16 l-4,0 l0-5.514 l 4-0.002l-0.006-3.248C 11.993,2.737, 13.213,0, 18.512,0l 4.412,0 l0,5.515 l-2.757,0 c-2.063,0-2.163,0.77-2.163,2.209l-0.008,2.76l 4.959,0 l-0.585,5.514L 18,16L 17.996,32z"></path></g></svg> Share on Facebook</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://twitter.com/intent/tweet?url=https://www.ncbi.nlm.nih.gov/books/NBK540960/&text=Megacystis-Microcolon-Intestinal%20Hypoperistalsis%20Syndrome%20Overview"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24"><g><path d="M 32,6.076c-1.177,0.522-2.443,0.875-3.771,1.034c 1.355-0.813, 2.396-2.099, 2.887-3.632 c-1.269,0.752-2.674,1.299-4.169,1.593c-1.198-1.276-2.904-2.073-4.792-2.073c-3.626,0-6.565,2.939-6.565,6.565 c0,0.515, 0.058,1.016, 0.17,1.496c-5.456-0.274-10.294-2.888-13.532-6.86c-0.565,0.97-0.889,2.097-0.889,3.301 c0,2.278, 1.159,4.287, 2.921,5.465c-1.076-0.034-2.088-0.329-2.974-0.821c-0.001,0.027-0.001,0.055-0.001,0.083 c0,3.181, 2.263,5.834, 5.266,6.438c-0.551,0.15-1.131,0.23-1.73,0.23c-0.423,0-0.834-0.041-1.235-0.118 c 0.836,2.608, 3.26,4.506, 6.133,4.559c-2.247,1.761-5.078,2.81-8.154,2.81c-0.53,0-1.052-0.031-1.566-0.092 c 2.905,1.863, 6.356,2.95, 10.064,2.95c 12.076,0, 18.679-10.004, 18.679-18.68c0-0.285-0.006-0.568-0.019-0.849 C 30.007,8.548, 31.12,7.392, 32,6.076z"></path></g></svg> Share on Twitter</a></div></aside><aside id="jr-rtoc-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Table of Content</div></div><div class="cnt lol f1"><a href="/books/n/gene/?report=reader">Title Information</a><a href="/books/n/gene/toc/?report=reader">Table of Contents Page</a></div></aside><aside id="jr-help-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Settings</div></div><div class="cnt f1"><div id="jr-typo-p" class="typo"><div><a class="sf btn wsprkl">A-</a><a class="lf btn wsprkl">A+</a></div><div><a class="bcol-auto btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 200 100" preserveAspectRatio="none"><text x="10" y="70" style="font-size:60px;font-family: Trebuchet MS, ArialMT, Arial, sans-serif" textLength="180">AUTO</text></svg></a><a class="bcol-1 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M15,25 85,25zM15,40 85,40zM15,55 85,55zM15,70 85,70z"></path></svg></a><a class="bcol-2 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M5,25 45,25z M55,25 95,25zM5,40 45,40z M55,40 95,40zM5,55 45,55z M55,55 95,55zM5,70 45,70z M55,70 95,70z"></path></svg></a></div></div><div class="lol"><a class="" href="/books/NBK540960/?report=classic">Switch to classic view</a><a href="/books/NBK540960/pdf/Bookshelf_NBK540960.pdf">PDF (464K)</a><a href="/books/NBK540960/?report=printable">Print View</a></div></div></aside><aside id="jr-bkhelp-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Help</div></div><div class="cnt f1 lol"><a id="jr-helpobj-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/help.xml" href="">Help</a><a href="mailto:info@ncbi.nlm.nih.gov?subject=PubReader%20feedback%20%2F%20NBK540960%20%2F%20sid%3ACE8B5AF87C7FFCB1_0191SID%20%2F%20phid%3ACE8E17167C885C3100000000001C001A.4">Send us feedback</a><a id="jr-about-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/about.xml" href="">About PubReader</a></div></aside><aside id="jr-objectbox" class="thidden hidden"><div class="jr-objectbox-close wsprkl">✘</div><div class="jr-objectbox-inner cnt"><div class="jr-objectbox-drawer"></div></div></aside><nav id="jr-pm-left" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Previous Page</text></svg></nav><nav id="jr-pm-right" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Next Page</text></svg></nav><nav id="jr-fip" class="hidden"><nav id="jr-fip-term-p"><input type="search" placeholder="search this page" id="jr-fip-term" autocorrect="off" autocomplete="off" /><a id="jr-fip-mg" class="wsprkl btn" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-fip-done" class="wsprkl btn" title="Dismiss find">✘</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK540960_"><span class="title" itemprop="name">Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonyms: Berdon Syndrome, MMHS</div><p class="contribs">Ambartsumyan L.</p><p class="fm-aai"><a href="#_NBK540960_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 19 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="mmihs-ov.Summary" itemprop="description"><h2 id="_mmihs-ov_Summary_">Summary</h2><p>The purpose of this overview is to:</p><dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>1.</dt><dd><p class="no_top_margin">Describe the <a href="#mmihs-ov.Clinical_Characteristics_of_Meg">clinical characteristics</a> of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS);</p></dd></dl><dl class="bkr_refwrap"><dt>2.</dt><dd><p class="no_top_margin">Review the <a href="#mmihs-ov.Genetic_Causes_of_MegacystisMic">genetic causes</a> of MMIHS;</p></dd></dl><dl class="bkr_refwrap"><dt>3.</dt><dd><p class="no_top_margin">Provide an <a href="#mmihs-ov.Evaluation_Strategy_to_Identify">evaluation strategy</a> to identify the genetic cause of MMIHS in a proband (when possible);</p></dd></dl><dl class="bkr_refwrap"><dt>4.</dt><dd><p class="no_top_margin">Review <a href="#mmihs-ov.Management_of_MegacystisMicroco">management</a> of MMIHS;</p></dd></dl><dl class="bkr_refwrap"><dt>5.</dt><dd><p class="no_top_margin">Inform <a href="#mmihs-ov.Genetic_Counseling_of_Family_Me">genetic counseling</a> of family members of an individual with MMIHS.</p></dd></dl></dl>
|
|
</div><div id="mmihs-ov.Clinical_Characteristics_of_Meg"><h2 id="_mmihs-ov_Clinical_Characteristics_of_Meg_">1. Clinical Characteristics of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</h2><p>Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by megacystis (bladder distention in the absence of mechanical obstruction), microcolon, and intestinal hypoperistalsis (dysmotility). This rare disorder is associated with significant morbidity and mortality.</p><p>MMIHS may be suspected prenatally secondary to findings of fetal megacystis on prenatal ultrasound. Affected infants present shortly after birth with symptoms of bowel and bladder obstruction. The most common presenting symptom is abdominal distention that is secondary to a massively dilated bladder in the absence of mechanical obstruction with or without dilated bowel loops. Other manifestations include bilious emesis, failure to pass meconium, and inability to spontaneously void requiring catheterization [<a class="bibr" href="#mmihs-ov.REF.puri.2005.58" rid="mmihs-ov.REF.puri.2005.58">Puri & Shinkai 2005</a>, <a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#mmihs-ov.REF.soh.2015.2048" rid="mmihs-ov.REF.soh.2015.2048">Soh et al 2015</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.prathapan.2021.e81" rid="mmihs-ov.REF.prathapan.2021.e81">Prathapan et al 2021</a>, <a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>].</p><p>Infants and children with MMIHS have myopathic dysfunction of bladder and associated urologic comorbidities that include urinary retention, febrile urinary tract infections, vesicoureteral reflux (VUR), and hydronephrosis with resultant risk of kidney failure [<a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>]. Gastrointestinal complications of MMIHS include microcolon, intestinal dysmotility, and associated gastrointestinal comorbidities including malrotation and complications such as short bowel syndrome and recurrent symptomatic and radiographic evidence of bowel obstruction in the absence of mechanical obstruction, known as chronic intestinal pseudo-obstruction (CIPO).</p><p>Intestinal dysfunction ultimately leads to nutritional compromise and intestinal failure resulting in dependence on total parenteral nutrition (TPN). Subsequently individuals may develop complications from TPN including central line infections, liver dysfunction, and liver failure. Multivisceral or isolated intestinal transplantation should be considered for those who continue to have nutritional failure and are unable to tolerate TPN as a result of liver failure or inability to maintain central venous access [<a class="bibr" href="#mmihs-ov.REF.de_sousa.2016.152" rid="mmihs-ov.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.prathapan.2021.e81" rid="mmihs-ov.REF.prathapan.2021.e81">Prathapan et al 2021</a>].</p><p>The prognosis for individuals with MMIHS, in light of its variable genetic causes, has not been well elucidated. Data on individuals prior to molecular diagnosis suggest a poor and often fatal prognosis especially within the first year of life. Sepsis followed by multiorgan failure and malnutrition have been reported as the most frequent causes of death [<a class="bibr" href="#mmihs-ov.REF.gosemann.2011.1041" rid="mmihs-ov.REF.gosemann.2011.1041">Gosemann & Puri 2011</a>].</p><p>Specialized centers with multidisciplinary care, intestinal rehabilitation, TPN management, and multivisceral transplantation have been credited for improving survival rates from 12.6% (1976-2004) to 55.6% (2004-2011) [<a class="bibr" href="#mmihs-ov.REF.gosemann.2011.1041" rid="mmihs-ov.REF.gosemann.2011.1041">Gosemann & Puri 2011</a>, <a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>]. A Japanese nationwide survey reported five- and ten-year survival rates to be 63% and 57%, respectively [<a class="bibr" href="#mmihs-ov.REF.soh.2015.2048" rid="mmihs-ov.REF.soh.2015.2048">Soh et al 2015</a>].</p><p>In a recent single-center long-term follow up of children with and without intestinal transplant, survival at five, ten, and 20 years was 100%, 100%, and 86%, respectively [<a class="bibr" href="#mmihs-ov.REF.prathapan.2021.e81" rid="mmihs-ov.REF.prathapan.2021.e81">Prathapan et al 2021</a>]. All children with intestinal transplant, with the exception of one, were tolerating enteral feeds and did not have significantly different growth parameters or laboratory assessment of liver function when compared to children who were not transplanted and dependent on TPN [<a class="bibr" href="#mmihs-ov.REF.prathapan.2021.e81" rid="mmihs-ov.REF.prathapan.2021.e81">Prathapan et al 2021</a>].</p><div id="mmihs-ov.Establishing_the_Clinical_Diagn"><h3>Establishing the Clinical Diagnosis of MMIHS</h3><div id="mmihs-ov.Prenatal_Imaging_Features_of_MM"><h4>Prenatal Imaging Features of MMIHS</h4><p>In a systematic review, prenatal diagnosis of MMIHS was suspected in 26% of individuals using prenatal ultrasound findings [<a class="bibr" href="#mmihs-ov.REF.tuzovic.2014.74" rid="mmihs-ov.REF.tuzovic.2014.74">Tuzovic et al 2014</a>].</p><p>Grossly dilated bladder with or without hydroureteronephrosis in the setting of normal or increased amniotic fluid volume may be found on the second trimester prenatal ultrasound [<a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#mmihs-ov.REF.machado.2013.345" rid="mmihs-ov.REF.machado.2013.345">Machado et al 2013</a>, <a class="bibr" href="#mmihs-ov.REF.tuzovic.2014.74" rid="mmihs-ov.REF.tuzovic.2014.74">Tuzovic et al 2014</a>, <a class="bibr" href="#mmihs-ov.REF.de_sousa.2016.152" rid="mmihs-ov.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.fontanella.2019.779" rid="mmihs-ov.REF.fontanella.2019.779">Fontanella et al 2019</a>]. Prenatal bladder manifestations of megacystis with or without hydroureteronephrosis are an initial presenting finding in 88% of individuals [<a class="bibr" href="#mmihs-ov.REF.tuzovic.2014.74" rid="mmihs-ov.REF.tuzovic.2014.74">Tuzovic et al 2014</a>].</p><p>Gastrointestinal abnormalities on prenatal ultrasound are less common (24%) and include gastric distention (visible in the second trimester) and dilated bowel loops (visible in the third trimester) [<a class="bibr" href="#mmihs-ov.REF.tuzovic.2014.74" rid="mmihs-ov.REF.tuzovic.2014.74">Tuzovic et al 2014</a>].</p><p>Dilated esophagus and microcolon have been reported using fetal MRI [<a class="bibr" href="#mmihs-ov.REF.munch.2009.592" rid="mmihs-ov.REF.munch.2009.592">Munch et al 2009</a>, <a class="bibr" href="#mmihs-ov.REF.machado.2013.345" rid="mmihs-ov.REF.machado.2013.345">Machado et al 2013</a>].</p></div><div id="mmihs-ov.Postnatal_Clinical_and_Imaging"><h4>Postnatal Clinical and Imaging Features of MMIHS</h4><p><b>Clinical features include</b> signs and symptoms of bowel and bladder obstruction [<a class="bibr" href="#mmihs-ov.REF.gosemann.2011.1041" rid="mmihs-ov.REF.gosemann.2011.1041">Gosemann & Puri 2011</a>, <a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>]. The following are the most common:</p><ul><li class="half_rhythm"><div>Abdominal distention</div></li><li class="half_rhythm"><div>Absent or decreased bowel sounds</div></li><li class="half_rhythm"><div>Bilious emesis</div></li><li class="half_rhythm"><div>Failure to pass meconium</div></li><li class="half_rhythm"><div>Inability to void requiring catheterization</div></li></ul><p>
|
|
<b>Imaging features</b>
|
|
</p><ul><li class="half_rhythm"><div>Abdominal radiograph shows gastric distention and dilatation of small bowel loops with paucity of distal gas [<a class="bibr" href="#mmihs-ov.REF.ballisty.2013.454" rid="mmihs-ov.REF.ballisty.2013.454">Ballisty et al 2013</a>].</div></li><li class="half_rhythm"><div>Fluoroscopic upper-gastrointestinal series reveals dilated stomach and small intestine with associated malrotation [<a class="bibr" href="#mmihs-ov.REF.ballisty.2013.454" rid="mmihs-ov.REF.ballisty.2013.454">Ballisty et al 2013</a>].</div></li><li class="half_rhythm"><div>Contrast enema demonstrates a small-caliber colon (microcolon) and may show an associated malrotation [<a class="bibr" href="#mmihs-ov.REF.ballisty.2013.454" rid="mmihs-ov.REF.ballisty.2013.454">Ballisty et al 2013</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>].</div></li><li class="half_rhythm"><div>Urologic findings on kidney/bladder ultrasound and cystography include a dilated bladder with large capacity, hydroureteronephrosis, and VUR. [<a class="bibr" href="#mmihs-ov.REF.ballisty.2013.454" rid="mmihs-ov.REF.ballisty.2013.454">Ballisty et al 2013</a>, <a class="bibr" href="#mmihs-ov.REF.machado.2013.345" rid="mmihs-ov.REF.machado.2013.345">Machado et al 2013</a>, <a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>]. Kidney scarring and acontractile bladder on kidney/bladder scan and urodynamic studies have been reported [<a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>].</div></li></ul></div></div><div id="mmihs-ov.Differential_Diagnosis_of_MMIHS"><h3>Differential Diagnosis of MMIHS</h3><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmmihsovTdifferentialdiagnosisofmeg"><a href="/books/NBK540960/table/mmihs-ov.T.differential_diagnosis_of_meg/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobmmihsovTdifferentialdiagnosisofmeg"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mmihs-ov.T.differential_diagnosis_of_meg"><a href="/books/NBK540960/table/mmihs-ov.T.differential_diagnosis_of_meg/?report=objectonly" target="object" rid-ob="figobmmihsovTdifferentialdiagnosisofmeg">Table 1. </a></h4><p class="float-caption no_bottom_margin">Differential Diagnosis of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome </p></div></div></div></div><div id="mmihs-ov.Genetic_Causes_of_MegacystisMic"><h2 id="_mmihs-ov_Genetic_Causes_of_MegacystisMic_">2. Genetic Causes of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</h2><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmmihsovTmegacystismicrocolonintestina"><a href="/books/NBK540960/table/mmihs-ov.T.megacystismicrocolonintestina/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobmmihsovTmegacystismicrocolonintestina"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mmihs-ov.T.megacystismicrocolonintestina"><a href="/books/NBK540960/table/mmihs-ov.T.megacystismicrocolonintestina/?report=objectonly" target="object" rid-ob="figobmmihsovTmegacystismicrocolonintestina">Table 2. </a></h4><p class="float-caption no_bottom_margin">Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Genes and Distinguishing Clinical Features </p></div></div></div><div id="mmihs-ov.Evaluation_Strategy_to_Identify"><h2 id="_mmihs-ov_Evaluation_Strategy_to_Identify_">3. Evaluation Strategy to Identify the Genetic Cause of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</h2><p>Establishing a specific genetic cause of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS):</p><ul><li class="half_rhythm"><div>Can aid in discussions of prognosis (which are beyond the scope of this <i>GeneReview</i>) and genetic counseling;</div></li><li class="half_rhythm"><div>Usually involves a medical history, physical examination, laboratory testing, family history, and genomic/genetic testing.</div></li></ul><p><b>Medical history.</b> The following medical history should raise concern for MMIHS:</p><ul><li class="half_rhythm"><div>Fetal megacystis on prenatal ultrasound in the setting of normal or increased amniotic fluid specifically in the second or third trimester of pregnancy</div></li><li class="half_rhythm"><div>Clinical symptoms of bowel and bladder obstruction shortly after birth characterized by abdominal distention, abnormal bowel sounds, bilious emesis, failure to pass meconium, and inability to void spontaneously requiring catheterization [<a class="bibr" href="#mmihs-ov.REF.devavarapu.2024.383" rid="mmihs-ov.REF.devavarapu.2024.383">Devavarapu et al 2024</a>]</div></li></ul><p><b>Physical examination.</b> Dilated pupils (mydriasis) suggest <i>MYL9-</i>related MMIHS. Dilated pupils (mydriasis) and vascular smooth muscle dysfunction (e.g., aortic aneurysm, aortic dissection) should raise concern for <i>MYH11-</i>related MMIHS (see <a href="/books/NBK540960/table/mmihs-ov.T.megacystismicrocolonintestina/?report=objectonly" target="object" rid-ob="figobmmihsovTmegacystismicrocolonintestina">Table 2</a>).</p><p><b>Family history.</b> A three-generation family history should be taken, with attention to the following:</p><ul><li class="half_rhythm"><div>Manifestations of MMIHS, bowel/bladder dysfunction, chronic intestinal pseudo-obstruction (CIPO), and multisystemic smooth muscle dysfunction syndrome (MSMDS), as well as familial forms of myopathy, neuropathy, mitochondrial diseases, and other conditions that affect the enteric nervous system or smooth muscle</div></li><li class="half_rhythm"><div>Parental consanguinity</div></li><li class="half_rhythm"><div>Recurrent fetal loss</div></li></ul><p><b>Genomic/genetic testing.</b> Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (multigene panel, single gene testing) and <b>comprehensive</b>
|
|
<b>genomic testing</b> (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas comprehensive genomic testing does not.</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>A multigene panel</b> that includes some or all of the genes listed in <a href="/books/NBK540960/table/mmihs-ov.T.differential_diagnosis_of_meg/?report=objectonly" target="object" rid-ob="figobmmihsovTdifferentialdiagnosisofmeg">Table 1</a> is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Serial single-gene testing</b> can be considered if clinical findings and/or family history indicate that pathogenic variants in a particular gene are most likely (see <a href="/books/NBK540960/table/mmihs-ov.T.megacystismicrocolonintestina/?report=objectonly" target="object" rid-ob="figobmmihsovTmegacystismicrocolonintestina">Table 2</a>).</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Comprehensive</b>
|
|
<b>genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible.</div><div class="half_rhythm">For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</div></li></ul></div><div id="mmihs-ov.Management_of_MegacystisMicroco"><h2 id="_mmihs-ov_Management_of_MegacystisMicroco_">4. Management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</h2><div id="mmihs-ov.Evaluations_Following_Initial_D"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><p>
|
|
<b>Urology</b>
|
|
</p><ul><li class="half_rhythm"><div>Urodynamic studies to evaluate the degree of bladder dysfunction (e.g., enlarged bladder capacity for age, detrusor acontractility with failure to empty) [<a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.hugar.2018.127" rid="mmihs-ov.REF.hugar.2018.127">Hugar et al 2018</a>]</div></li><li class="half_rhythm"><div>Voiding cystourethrogram to evaluate for outlet obstruction, vesicoureteral reflux (VUR), and bladder capacity [<a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>]</div></li><li class="half_rhythm"><div>Kidney and bladder ultrasound to evaluate for hydronephrosis and renal parenchyma</div></li><li class="half_rhythm"><div>Laboratory evaluation of kidney function (blood urea nitrogen, creatinine, glomerular filtration rate) and electrolytes (potassium, phosphorus, calcium)</div></li></ul><p>
|
|
<b>Gastroenterology</b>
|
|
</p><ul><li class="half_rhythm"><div>Bowel imaging: abdominal radiograph, contrast enema, and fluoroscopic upper gastrointestinal series. Computed tomography examination of the abdomen may be indicated to evaluate for a mechanical obstruction.</div></li><li class="half_rhythm"><div>Laboratory monitoring of liver enzymes (aspartate transaminase, alanine transaminase, alkaline phosphatase), cholestasis (total and direct bilirubin), and liver function (prothrombin time, partial thromboplastin time, international normalized ratio, albumin)</div></li><li class="half_rhythm"><div>Laboratory evaluation of macronutrient (carbohydrates, fat, protein) and micronutrient (vitamins, minerals) deficiencies in the setting of intestinal dysfunction and progressive malabsorption</div></li><li class="half_rhythm"><div>Nutrition evaluation and close monitoring of growth parameters</div></li></ul><p><b>Cardiology.</b> Cardiology evaluation with echocardiogram in individuals with <i>MYH11</i> pathogenic variants that raise suspicion of multisystemic smooth muscle dysfunction syndrome (MSMDS) [<a class="bibr" href="#mmihs-ov.REF.yetman.2018.1011" rid="mmihs-ov.REF.yetman.2018.1011">Yetman & Starr 2018</a>]</p><p><b>Genetic.</b> Consultation with a clinical geneticist, certified genetic counselor, certified genetic nurse, or genetics advanced practice provider (nurse practitioner or physician assistant) to inform affected individuals and their families about the nature, mode of inheritance, and implications of MMIHS in order to facilitate medical and personal decision making</p><p><b>Other.</b> Ophthalmologic evaluation for mydriasis</p></div><div id="mmihs-ov.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p><b>Myopathic bladder dysfunction and associated urologic comorbidities.</b> Clean intermittent catheterizations or vesicostomy to ensure bladder decompression and prevent kidney scarring and failure [<a class="bibr" href="#mmihs-ov.REF.pellegrino.2024.124" rid="mmihs-ov.REF.pellegrino.2024.124">Pellegrino et al 2024</a>].</p><p><b>Bowel dysfunction, microcolon, intestinal dysmotility, and associated gastrointestinal comorbidities</b> (malrotation, short bowel syndrome, recurrent non-mechanical bowel obstruction):</p><ul><li class="half_rhythm"><div>Surgical interventions such as enterostomies (e.g., gastrostomy, jejunostomy) for nutrition administration and proximal bowel decompression [<a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#mmihs-ov.REF.soh.2015.2048" rid="mmihs-ov.REF.soh.2015.2048">Soh et al 2015</a>, <a class="bibr" href="#mmihs-ov.REF.de_sousa.2016.152" rid="mmihs-ov.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.thapar.2018.991" rid="mmihs-ov.REF.thapar.2018.991">Thapar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.devavarapu.2024.383" rid="mmihs-ov.REF.devavarapu.2024.383">Devavarapu et al 2024</a>]</div></li><li class="half_rhythm"><div>Bowel diversion (e.g., ileostomy, colostomy) for distal bowel decompression [<a class="bibr" href="#mmihs-ov.REF.puri.2012.310" rid="mmihs-ov.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#mmihs-ov.REF.soh.2015.2048" rid="mmihs-ov.REF.soh.2015.2048">Soh et al 2015</a>, <a class="bibr" href="#mmihs-ov.REF.de_sousa.2016.152" rid="mmihs-ov.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.thapar.2018.991" rid="mmihs-ov.REF.thapar.2018.991">Thapar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.devavarapu.2024.383" rid="mmihs-ov.REF.devavarapu.2024.383">Devavarapu et al 2024</a>]</div></li><li class="half_rhythm"><div>Total parenteral nutrition (TPN) when appropriate for malnutrition as a result of intestinal failure from intestinal dysmotility</div></li><li class="half_rhythm"><div>Multivisceral or isolated intestinal transplantation should be considered for those who continue to have nutritional failure and are unable to tolerate TPN because of complications (e.g., liver dysfunction and cholestasis, lack of adequate central venous access, recurrent central line-associated bloodstream infections) [<a class="bibr" href="#mmihs-ov.REF.huang.2013.e4" rid="mmihs-ov.REF.huang.2013.e4">Huang et al 2013</a>, <a class="bibr" href="#mmihs-ov.REF.de_sousa.2016.152" rid="mmihs-ov.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.wymer.2016.1565" rid="mmihs-ov.REF.wymer.2016.1565">Wymer et al 2016</a>, <a class="bibr" href="#mmihs-ov.REF.thapar.2018.991" rid="mmihs-ov.REF.thapar.2018.991">Thapar et al 2018</a>, <a class="bibr" href="#mmihs-ov.REF.devavarapu.2024.383" rid="mmihs-ov.REF.devavarapu.2024.383">Devavarapu et al 2024</a>].</div></li></ul><p><b>Vascular smooth muscle dysfunction</b> in individuals with <i>MYH11</i> and <i>ACTA2</i> pathogenic variants that cause concern for MSMDS [<a class="bibr" href="#mmihs-ov.REF.yetman.2018.1011" rid="mmihs-ov.REF.yetman.2018.1011">Yetman & Starr 2018</a>]:</p><ul><li class="half_rhythm"><div>Referral to cardiologist and monitoring for pulmonary hypertension, aortic dilatation, and patent ductus arteriosus</div></li><li class="half_rhythm"><div>Referral to neurologist for evaluation for abnormal cerebral vasculature [<a class="bibr" href="#mmihs-ov.REF.yetman.2018.1011" rid="mmihs-ov.REF.yetman.2018.1011">Yetman & Starr 2018</a>]</div></li></ul></div><div id="mmihs-ov.Surveillance"><h3>Surveillance</h3><p>The prognosis for individuals with MMIHS in light of its variable genetic causes has not been well elucidated. Data on individuals prior to molecular diagnosis suggests a poor and often fatal prognosis within the first year of life.</p><p>The evaluation and management are primarily supportive. Specialized centers offer multidisciplinary medical and surgical models of care including comprehensive TPN management and multivisceral transplantation.</p><p>Goals of bladder management include bladder decompression and subsequent monitoring and prevention of kidney failure.</p><p>Goals of bowel management include providing means of nutrition in the setting of intestinal dysmotility via enteral or parenteral means while monitoring for nutritional failure and TPN-associated complications (line infections, liver disease).</p></div><div id="mmihs-ov.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Treatment/medications to be avoided or limited include those that diminish bowel and bladder motility.</p></div><div id="mmihs-ov.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="mmihs-ov.Genetic_Counseling_of_Family_Me"><h2 id="_mmihs-ov_Genetic_Counseling_of_Family_Me_">5. Genetic Counseling of Family Members of an Individual with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</h2><p>
|
|
<i>Genetic counseling is the process of providing individuals and families with
|
|
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
|
make informed medical and personal decisions. The following section deals with genetic
|
|
risk assessment and the use of family history and genetic testing to clarify genetic
|
|
status for family members; it is not meant to address all personal, cultural, or
|
|
ethical issues that may arise or to substitute for consultation with a genetics
|
|
professional</i>. —ED.</p><div id="mmihs-ov.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) caused by pathogenic variants in <i>ACTG2</i> is typically inherited in an autosomal dominant manner. Apparent autosomal recessive inheritance has been reported in one family in which two sibs with intestinal pseudo-obstruction and megacystis were found to have biallelic <i>ACTG2</i> variants while their heterozygous parents were asymptomatic [<a class="bibr" href="#mmihs-ov.REF.matera.2021.430" rid="mmihs-ov.REF.matera.2021.430">Matera et al 2021</a>]. Further study is needed to confirm that the <i>ACTG2</i> variants segregating in this family are causative of the phenotype in the affected sibs.</p><p>MMIHS caused by biallelic pathogenic variants in <i>LMOD1</i>, <i>MYH11</i>, <i>MYL9</i>, <i>MYLK</i>, or <i>PDCL3</i> is inherited in an autosomal recessive manner.</p><p>MMIHS caused by a heterozygous pathogenic variant in <i>ATP2B4</i> is inherited in an autosomal dominant manner.</p></div><div id="mmihs-ov.Autosomal_Dominant_Inheritance"><h3>Autosomal Dominant Inheritance – Risk to Family Members</h3><p>
|
|
<b>Parents of a proband</b>
|
|
</p><ul><li class="half_rhythm"><div>Some individuals diagnosed with autosomal dominant MMIHS have the disorder as the result of a <i>de novo</i> pathogenic variant [<a class="bibr" href="#mmihs-ov.REF.wangler.2014.e1004258" rid="mmihs-ov.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</div></li><li class="half_rhythm"><div>Some individuals diagnosed with MMIHS inherited a pathogenic variant from a parent. The severity of clinical findings may vary within a family; a parent may be asymptomatic or have a milder phenotype [<a class="bibr" href="#mmihs-ov.REF.wangler.2014.e1004258" rid="mmihs-ov.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</div></li><li class="half_rhythm"><div>If the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment.</div></li><li class="half_rhythm"><div>If the pathogenic variant identified in the proband is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div class="half_rhythm">The proband has a <i>de novo</i> pathogenic variant.</div></li><li class="half_rhythm"><div class="half_rhythm">The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism.* Parental somatic and gonadal mosaicism have been reported in <i>ACTG2</i>-related MMIHS [<a class="bibr" href="#mmihs-ov.REF.tuzovic.2015.296" rid="mmihs-ov.REF.tuzovic.2015.296">Tuzovic et al 2015</a>, <a class="bibr" href="#mmihs-ov.REF.milunsky.2017.1254" rid="mmihs-ov.REF.milunsky.2017.1254">Milunsky et al 2017</a>]. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.</div><div class="half_rhythm">* A parent with somatic and gonadal mosaicism for an <i>ACTG2</i> pathogenic variant may be mildly/minimally affected.</div></li></ul></li><li class="half_rhythm"><div>The family history of some individuals diagnosed with autosomal dominant MMIHS may appear to be negative because of failure to recognize the disorder in family members because of a milder phenotypic expression, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent. Therefore, an apparently negative family history cannot be confirmed unless molecular genetic testing has demonstrated that neither parent is heterozygous for the MMIHS-related pathogenic variant identified in the proband.</div></li></ul><p><b>Sibs of a proband.</b> The risk to sibs depends on the clinical/genetic status of a proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the proband is affected and/or is known to have the autosomal dominant MMIHS-related pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%.</div></li><li class="half_rhythm"><div>Clinical severity and phenotype may differ between family members with the same MMIHS-related pathogenic variant; thus, age of onset and/or progression may not be predictable in heterozygous sibs.</div></li><li class="half_rhythm"><div>If the MMIHS-related pathogenic variant detected in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental gonadal mosaicism [<a class="bibr" href="#mmihs-ov.REF.tuzovic.2015.296" rid="mmihs-ov.REF.tuzovic.2015.296">Tuzovic et al 2015</a>, <a class="bibr" href="#mmihs-ov.REF.milunsky.2017.1254" rid="mmihs-ov.REF.milunsky.2017.1254">Milunsky et al 2017</a>].</div></li><li class="half_rhythm"><div>If the parents have not been tested for the MMIHS-related pathogenic variant but are clinically unaffected, the risk to the sibs of a proband appears to be low. However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for MMIHS because of the possibility of parental gonadal mosaicism or reduced penetrance in a heterozygous parent.</div></li></ul><p><b>Offspring of a proband.</b> Each child of an individual with autosomal dominant MMIHS has a 50% chance of inheriting the MMIHS-related pathogenic variant.</p><p><b>Other family members.</b> The risk to other family members depends on the status of the proband's parents: if a parent has the MMIHS-related pathogenic variant, the parent's family members may be at risk.</p></div><div id="mmihs-ov.Autosomal_Recessive_Inheritance"><h3>Autosomal Recessive Inheritance – Risk to Family Members</h3><p>
|
|
<b>Parents of a proband</b>
|
|
</p><ul><li class="half_rhythm"><div>The parents of an affected individual are presumed to be heterozygous for an MMIHS-related pathogenic variant.</div></li><li class="half_rhythm"><div>If a molecular diagnosis has been established in the proband, molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for an MMIHS-related pathogenic variant and to allow reliable recurrence risk assessment.</div></li><li class="half_rhythm"><div>If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#mmihs-ov.REF.j_nsson.2017.519" rid="mmihs-ov.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are not at risk for MMIHS.</div></li></ul><p>
|
|
<b>Sibs of a proband</b>
|
|
</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for an MMIHS-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are not at risk for MMIHS.</div></li></ul><p><b>Offspring of a proband.</b> The offspring of an individual with autosomal recessive MMIHS are obligate heterozygotes (carriers) for an MMIHS-related pathogenic variant.</p><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of an MMIHS-related pathogenic variant.</p><p><b>Carrier detection.</b> Carrier testing for at-risk relatives requires prior identification of the MMIHS-related pathogenic variants in the family.</p></div><div id="mmihs-ov.Related_Genetic_Counseling_Issu"><h3>Related Genetic Counseling Issues</h3><p><b>Evaluation of relatives at risk.</b> It is appropriate to clarify the genetic status of apparently asymptomatic younger at-risk relatives of an affected individual, as early diagnosis may help prevent unnecessary surgery for symptoms of intestinal obstruction and may allow early evaluation of bladder function, the urinary tract (for evidence of dilatation), and kidney function. Evaluations can include:</p><ul><li class="half_rhythm"><div>Molecular genetic testing if the pathogenic variant(s) in the family are known;</div></li><li class="half_rhythm"><div>Abdominal or bladder ultrasound and contrast enema if the pathogenic variant(s) in the family are not known. Evidence of megacystis (on the abdominal or bladder ultrasound) and microcolon (on the contrast enema) are highly suggestive of MMIHS.</div></li></ul><p>
|
|
<b>Family planning</b>
|
|
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or are at risk of having an MMIHS-related pathogenic variant.</div></li><li class="half_rhythm"><div>It is appropriate to offer molecular genetic testing for reproductive partners of individuals known to be heterozygous for a pathogenic variant associated with autosomal recessive MMIHS, particularly if consanguinity is likely.</div></li></ul></div><div id="mmihs-ov.Prenatal_Testing_and_Preimplant"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p><b>Molecular genetic testing.</b> Once the MMIHS-related pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p><b>Prenatal ultrasound.</b> See <a href="#mmihs-ov.Prenatal_Imaging_Features_of_MM">Prenatal Imaging Features of MMIHS</a>.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="mmihs-ov.Resources"><h2 id="_mmihs-ov_Resources_">Resources</h2><p>
|
|
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
|
support organizations and/or registries for the benefit of individuals with this disorder
|
|
and their families. GeneReviews is not responsible for the information provided by other
|
|
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
|
|
<ul><li class="half_rhythm"><div>
|
|
<b>MMIHS Foundation</b>
|
|
</div><div>
|
|
<a href="https://www.mmihs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">mmihs.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>Children's Organ Transplant Association</b>
|
|
</div><div><b>Phone:</b> 800-366-2682</div><div><b>Fax:</b> 812-336-8885</div><div><b>Email:</b> cota@cota.org</div><div>
|
|
<a href="https://cota.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">cota.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>International Foundation for Functional Gastrointestinal Disorders (IFFGD)</b>
|
|
</div><div><b>Phone:</b> 414-964-1799</div><div>
|
|
<a href="http://www.iffgd.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">iffgd.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>International Foundation for Functional Gastrointestinal Disorders (IFFGD) - ABOUT KIDS GI</b>
|
|
</div><div>
|
|
<a href="http://www.aboutkidsgi.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">aboutkidsgi.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>National Digestive Diseases Information Clearinghouse (NDDIC)</b>
|
|
</div><div>
|
|
<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/intestinal-pseudo-obstruction" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Intestinal Pseudo-obstruction</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)</b>
|
|
</div><div><b>Phone:</b> 301-496-3583 </div><div>
|
|
<a href="https://www.niddk.nih.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">niddk.nih.gov</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>Prune Belly Syndrome Network</b>
|
|
</div><div><b>Phone:</b> 855-ASK-PBSN</div><div>
|
|
<a href="http://prunebelly.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">prunebelly.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>Pull-thru Network</b>
|
|
</div><div><b>Phone:</b> -309-262-0786</div><div><b>Email:</b> info@pullthrunetwork.org</div><div>
|
|
<a href="http://www.pullthrunetwork.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">pullthrunetwork.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>The Oley Foundation</b>
|
|
</div><div><b>Phone:</b> 518-262-5079</div><div><b>Email:</b> info@oley.org</div><div>
|
|
<a href="https://oley.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">oley.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>United Ostomy Associations of America, Inc.</b>
|
|
</div><div><b>Phone:</b> 800-826-0826</div><div>
|
|
<a href="https://www.ostomy.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ostomy.org</a>
|
|
</div></li></ul>
|
|
</div><div id="mmihs-ov.Chapter_Notes"><h2 id="_mmihs-ov_Chapter_Notes_">Chapter Notes</h2><div id="mmihs-ov.Author_Notes"><h3>Author Notes</h3><p>Lusine Ambartsumyan's <a href="https://www.seattlechildrens.org/directory/lusine-ambartsumyan/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">web page</a></p><p>Lusine Ambartsumyan specializes in the diagnosis and management of individuals with Hirschsprung disease, anorectal malformation, refractory constipation, neurogenic bowel, gastroparesis, chronic intestinal pseudo-obstruction, achalasia, and scleroderma. Her clinical and research interests include mechanisms of fecal continence in children with functional and organic defecation disorders, specifically children with anorectal malformations, neurogenic bowel, and postsurgical Hirschsprung disease.</p></div><div id="mmihs-ov.Acknowledgments"><h3>Acknowledgments</h3><p>Countless patients and families who have entrusted our gastrointestinal motility program with their care.</p></div><div id="mmihs-ov.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>1 August 2024 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>9 May 2019 (sw) Review posted live</div></li><li class="half_rhythm"><div>5 December 2018 (la) Original submission</div></li></ul></div></div><div id="mmihs-ov.References"><h2 id="_mmihs-ov_References_">References</h2><div id="mmihs-ov.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.ballisty.2013.454">Ballisty
|
|
MM, Braithwaite
|
|
KA, Shehata
|
|
BM, Dickson
|
|
PN. Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome.
|
|
Pediatr Radiol.
|
|
2013;43:454-9.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/22926452" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22926452</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.billon.2020.261">Billon
|
|
C, Molin
|
|
A, Poirsier
|
|
C, Clemenson
|
|
A, Dauge
|
|
C, Grelet
|
|
M, Sigaudy
|
|
S, Patrier
|
|
S, Goldenberg
|
|
A, Layet
|
|
V, Tantau
|
|
J, Fleury
|
|
C, Liard
|
|
A, Diguet
|
|
A, Fritih
|
|
R, Verspyck
|
|
E, Rendu
|
|
J, Boutaud
|
|
L, Tessier
|
|
A, Thomas
|
|
S, Razavi
|
|
F, Achaiaa
|
|
A, Elkhartoufi
|
|
N, Hakkakian
|
|
L, Magnin
|
|
E, Bôle-Feysot
|
|
C, Masson
|
|
C, Ville
|
|
Y, Roth
|
|
P, Prieur
|
|
F, Bessieres
|
|
B, Bonniere
|
|
M, Attie-Bitach
|
|
T.
|
|
Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
|
|
Clin Genet.
|
|
2020;98:261-73.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/32621347" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32621347</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.de_sousa.2016.152">De Sousa
|
|
J, Upadhyay
|
|
V, Stone
|
|
P. Megacystis microcolon intestinal hypoperistalsis syndrome: case reports and discussion of the literature.
|
|
Fetal Diagn Ther.
|
|
2016;39:152-7.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/26645214" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26645214</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.devavarapu.2024.383">Devavarapu
|
|
PKV, Uppaluri
|
|
KR, Nikhade
|
|
VA, Palasamudram
|
|
K, Sri Manjari
|
|
K. Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
|
|
Clin J Gastroenterol.
|
|
2024;17:383-95.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/38461165" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 38461165</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.fontanella.2019.779">Fontanella
|
|
F, Maggio
|
|
L, Verheij
|
|
JBGM, Duin
|
|
LK, Adama van Scheltema
|
|
PN, Cohen-Overbeek
|
|
TE, Pajkrt
|
|
E, Bekker
|
|
M, Willekes
|
|
C, Bax
|
|
CJ, Gracchi
|
|
V, Oepkes
|
|
D, Bilardo
|
|
CM. Fetal megacystis: a lot more than LUTO.
|
|
Ultrasound Obstet Gynecol.
|
|
2019;53:779-87.
|
|
[<a href="/pmc/articles/PMC6593717/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6593717</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30043466" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30043466</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.gauthier.2015.1266">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;23:1266-8.
|
|
[<a href="/pmc/articles/PMC4538215/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4538215</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25407000" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25407000</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.gosemann.2011.1041">Gosemann
|
|
JH, Puri
|
|
P. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.
|
|
Pediatr Surg Int.
|
|
2011;27:1041-6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/21792650" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21792650</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.halim.2017a.123">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.
|
|
2017a;101:123-9.
|
|
[<a href="/pmc/articles/PMC5501771/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5501771</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28602422" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28602422</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.halim.2017b.e2739">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.
|
|
2017b;114
|
|
E2739-47.
|
|
[<a href="/pmc/articles/PMC5380076/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5380076</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28292896" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28292896</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.huang.2013.e4">Huang
|
|
CM, Tseng
|
|
SH, Weng
|
|
CC, Chen
|
|
Y. Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report.
|
|
Pediatr Transplant.
|
|
2013;17:E4-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/23167913" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23167913</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.hugar.2018.127">Hugar
|
|
LA, Chaudhry
|
|
R, Fuller
|
|
TW, Cannon
|
|
GM, Schneck
|
|
FX, Ost
|
|
MC, Stephany
|
|
HA. Urologic phenotype and patterns of care in patients with megacystis microcolon intestinal hypoperistalsis syndrome presenting to a major pediatric transplantation center.
|
|
Urology.
|
|
2018;119:127-32.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/29752972" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29752972</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.j_nsson.2017.519">Jónsson
|
|
H, Sulem
|
|
P, Kehr
|
|
B, Kristmundsdottir
|
|
S, Zink
|
|
F, Hjartarson
|
|
E, Hardarson
|
|
MT, Hjorleifsson
|
|
KE, Eggertsson
|
|
HP, Gudjonsson
|
|
SA, Ward
|
|
LD, Arnadottir
|
|
GA, Helgason
|
|
EA, Helgason
|
|
H, Gylfason
|
|
A, Jonasdottir
|
|
A, Jonasdottir
|
|
A, Rafnar
|
|
T, Frigge
|
|
M, Stacey
|
|
SN, Th Magnusson
|
|
O, Thorsteinsdottir
|
|
U, Masson
|
|
G, Kong
|
|
A, Halldorsson
|
|
BV, Helgason
|
|
A, Gudbjartsson
|
|
DF, Stefansson
|
|
K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
|
|
Nature.
|
|
2017;549:519-22.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/28959963" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28959963</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.kalsbeek.2022.749">Kalsbeek
|
|
A, Dhar-Dass
|
|
R, Hanan
|
|
A, Al-Haddad
|
|
E, William
|
|
I, Alazraki
|
|
A, Poulik
|
|
J, McCollum
|
|
K, Almashad
|
|
A, Shehata
|
|
BM. Five new cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), with one case showing a novel mutation.
|
|
Fetal Pediatr Pathol.
|
|
2022;41:749-58.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/34383618" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34383618</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.kandler.2020.e1516">Kandler
|
|
JL, Sklirou
|
|
E, Woerner
|
|
A, Walsh
|
|
L, Cox
|
|
E, Xue
|
|
Y. Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
|
|
Mol Genet Genomic Med.
|
|
2020;8:e1516.
|
|
[<a href="/pmc/articles/PMC7667357/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7667357</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33031641" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33031641</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.kloth.2019.85">Kloth
|
|
K, Renner
|
|
S, Burmester
|
|
G, Steinemann
|
|
D, Pabst
|
|
B, Lorenz
|
|
B, Simon
|
|
R, Kolbe
|
|
V, Hempel
|
|
M, Rosenberger
|
|
G.
|
|
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
|
|
Clin Genet.
|
|
2019;96:85-90.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/31044419" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31044419</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.machado.2013.345">Machado
|
|
L, Matias
|
|
A, Rodrigues
|
|
M, Mariz
|
|
C, Monteiro
|
|
J, Montenegro
|
|
N. Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus.
|
|
Ultrasound Obstet Gynecol.
|
|
2013;41:345-7.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/23243015" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23243015</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.matera.2021.430">Matera
|
|
I, Bordo
|
|
D, Di Duca
|
|
M, Lerone
|
|
M, Santamaria
|
|
G, Pongiglione
|
|
M, Lezo
|
|
A, Diamanti
|
|
A, Spagnuolo
|
|
MI, Pini Prato
|
|
A, Alberti
|
|
D, Mattioli
|
|
G, Gandullia
|
|
P, Ceccherini
|
|
I. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
|
|
Clin Genet.
|
|
2021;99:430-6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/33294969" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33294969</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.milunsky.2017.1254">Milunsky
|
|
A, Lazier
|
|
J, Baldwin
|
|
C, Young
|
|
C, Primack
|
|
D, Milunsky
|
|
JM. Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.
|
|
Prenat Diagn.
|
|
2017;37:1254-6.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/29072330" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29072330</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.moreno.2018.669">Moreno
|
|
CA, Sobreira
|
|
N, Pugh
|
|
E, Zhang
|
|
P, Steel
|
|
G, Torres
|
|
FR, Cavalcanti
|
|
DP. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.
|
|
Eur J Hum Genet.
|
|
2018;26:669-75.
|
|
[<a href="/pmc/articles/PMC5945668/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5945668</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29453416" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29453416</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.munch.2009.592">Munch
|
|
EM, Cisek
|
|
LJ
|
|
Jr, Roth
|
|
DR. Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome.
|
|
Urology.
|
|
2009;74:592-4.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/19501881" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19501881</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.pellegrino.2024.124">Pellegrino
|
|
C, Barone
|
|
G, Capitanucci
|
|
ML, Zaccara
|
|
AM, Fusaro
|
|
F, Iacobelli
|
|
BD, Scorletti
|
|
F, Conforti
|
|
A, De Angelis
|
|
P, Diamanti
|
|
A, Caldaro
|
|
T, Tambucci
|
|
R, Sollini
|
|
ML, Forlini
|
|
V, Mosiello
|
|
G. Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.
|
|
Pediatr Surg Int.
|
|
2024;40:124.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/38713441" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 38713441</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.prathapan.2021.e81">Prathapan
|
|
KM, King
|
|
DE, Raghu
|
|
VK, Ackerman
|
|
K, Presel
|
|
T, Yaworski
|
|
JA, Ganoza
|
|
A, Bond
|
|
G, Sevilla
|
|
WMA, Rudolph
|
|
JA, Alissa
|
|
F. Megacystis microcolon intestinal hypoperistalsis syndrome: a case series with long-term follow-up and prolonged survival.
|
|
J Pediatr Gastroenterol Nutr.
|
|
2021;72:e81-e85.
|
|
[<a href="/pmc/articles/PMC9124153/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9124153</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33264186" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33264186</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.puri.2012.310">Puri
|
|
P, Gosemann
|
|
JH. Variants of Hirschsprung disease.
|
|
Semin Pediatr Surg.
|
|
2012;21:310-8.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/22985836" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22985836</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.puri.2005.58">Puri
|
|
P, Shinkai
|
|
M. Megacystis microcolon intestinal hypoperistalsis syndrome.
|
|
Semin Pediatr Surg.
|
|
2005;14:58-63.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/15770589" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15770589</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.soh.2015.2048">Soh
|
|
H, Fukuzawa
|
|
M, Kubota
|
|
A, Kawahara
|
|
H, Ueno
|
|
T, Taguchi
|
|
T. Megacystis microcolon intestinal hypoperistalsis syndrome: a report of a nationwide survey in Japan.
|
|
J Pediatr Surg.
|
|
2015;50:2048-50.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/26413901" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26413901</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.thapar.2018.991">Thapar
|
|
N, Saliakellis
|
|
E, Benninga
|
|
MA, Borrelli
|
|
O, Curry
|
|
J, Faure
|
|
C, De Giorgio
|
|
R, Gupte
|
|
G, Knowles
|
|
CH, Staiano
|
|
A, Vandenplas
|
|
Y, Di Lorenzo
|
|
C. Paediatric intestinal pseudo-obstruction: evidence and consensus-based recommendations from an ESPGHAN-led expert group.
|
|
J Pediatr Gastroenterol Nutr.
|
|
2018;66:991-1019.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/29570554" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29570554</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.tuzovic.2014.74">Tuzovic
|
|
L, Anyane-Yeboa
|
|
K, Mills
|
|
A, Glassberg
|
|
K, Miller
|
|
R.
|
|
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.
|
|
Fetal Diagn Ther.
|
|
2014;36:74-80.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/24577413" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24577413</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.tuzovic.2015.296">Tuzovic
|
|
L, Tang
|
|
S, Miller
|
|
RS, Rohena
|
|
L, Shahmirzadi
|
|
L, Gonzalez
|
|
K, Li
|
|
X, LeDuc
|
|
CA, Guo
|
|
J, Wilson
|
|
A, Mills
|
|
A, Glassberg
|
|
K, Rotterdam
|
|
H, Sepulveda
|
|
AR, Zeng
|
|
W, Chung
|
|
WK, Anyane-Yeboa
|
|
K. New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding gamma-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome).
|
|
Fetal Diagn Ther.
|
|
2015;38:296-306.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/25998219" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25998219</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.wang.2019.1067">Wang
|
|
Q, Zhang
|
|
J, Wang
|
|
H, Feng
|
|
Q, Luo
|
|
F, Xie
|
|
J. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
|
|
J Hum Genet.
|
|
2019;64:1067-73.
|
|
[<a href="/pmc/articles/PMC6760584/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6760584</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31427716" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31427716</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.wangler.2014.e1004258">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, Gibbs
|
|
RA, Lupski
|
|
JR, Beaudet
|
|
A, et al.
|
|
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
|
|
PLoS Genet.
|
|
2014;10:e1004258.
|
|
[<a href="/pmc/articles/PMC3967950/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3967950</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24676022" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24676022</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.wymer.2016.1565">Wymer
|
|
KM, Anderson
|
|
BB, Wilkens
|
|
AA, Gundeti
|
|
MS. Megacystis microcolon intestinal hypoperistalsis syndrome: case series and updated review of the literature with an emphasis on urologic management.
|
|
J Pediatr Surg.
|
|
2016;51:1565-73.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/27421821" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27421821</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mmihs-ov.REF.yetman.2018.1011">Yetman
|
|
AT, Starr
|
|
LJ. Newly described recessive MYH11 disorder with clinical overlap of multisystemic smooth muscle dysfunction and megacystis microcolon hypoperistalsis syndromes.
|
|
Am J Med Genet A.
|
|
2018;176:1011-14.
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/29575632" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29575632</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK540960_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Lusine Ambartsumyan</span>, MD<div class="affiliation small">Seattle Children's Hospital<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.snerdlihcelttaes@naymustrabma.enisul" class="oemail">gro.snerdlihcelttaes@naymustrabma.enisul</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">May 9, 2019</span>; Last Update: <span itemprop="dateModified">August 1, 2024</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
|
|
a registered trademark of the University of Washington, Seattle. All rights
|
|
reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
|
|
hereby granted to reproduce, distribute, and translate copies of content materials for
|
|
noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
|
|
Washington) are included with each copy; (ii) a link to the original material is provided
|
|
whenever the material is published elsewhere on the Web; and (iii) reproducers,
|
|
distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
|
|
of GeneReviews chapters for use in lab reports and clinic notes are a permitted
|
|
use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
|
|
contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Ambartsumyan L. Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview. 2019 May 9 [Updated 2024 Aug 1]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/mcad/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/mlc/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobmmihsovTdifferentialdiagnosisofmeg"><div id="mmihs-ov.T.differential_diagnosis_of_meg" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Differential Diagnosis of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540960/table/mmihs-ov.T.differential_diagnosis_of_meg/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mmihs-ov.T.differential_diagnosis_of_meg_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Presenting Symptom in MMIHS</th><th id="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Differential Diagnosis</th><th id="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing Clinical Features</th></tr></thead><tbody><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Fetal megacystis</b>
|
|
</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Lower urinary tract obstruction</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Imaging or cystoscopy shows posterior urethral valves or urethral atresia/stenosis.</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_1" rowspan="8" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;"><b>Obstructive symptoms</b><br />(e.g., abdominal distention, bilious emesis, failure to pass meconium)</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hirschsprung disease</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of megacystis; rectal biopsy shows absence of ganglion cells.</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Small bowel atresia or colonic atresia</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of microcolon; isolated colonic atresia w/o megacystis</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Anorectal malformation</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Abnormal anal position/caliber; clinical features of VACTERL association</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Meconium ileus/plug</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Family history of cystic fibrosis; poor weight gain; pancreatic insufficiency</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Hypothyroidism</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of megacystis & microcolon; laboratory evidence of hypothyroidism</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Sepsis</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of megacystis & microcolon; laboratory evidence of sepsis</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Prenatal & intrapartum medication exposure (e.g., magnesium sulfate, opioids)</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of megacystis & microcolon</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Diabetic embryopathy</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of megacystis</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Fetal megacystis & obstructive symptoms</b>
|
|
</td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Prune belly sequence <sup>1</sup></td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Absence of microcolon</td></tr><tr><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Multisystemic smooth muscle dysfunction syndrome (MSMDS) <sup>1</sup></td><td headers="hd_h_mmihs-ov.T.differential_diagnosis_of_meg_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mydriasis, vascular abnormalities, absence of microcolon</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">VACTERL = (<i>v</i>ertebral anomalies, <i>a</i>nal anomalies, <i>c</i>ardiac defects, <i>t</i>racheoesophageal fistula with <i>e</i>sophageal atresia, <i>r</i>enal anomalies, and <i>l</i>imb anomalies)</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mmihs-ov.TF.1.1"><p class="no_margin">Isolated (without additional features of MMIHS)</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmmihsovTmegacystismicrocolonintestina"><div id="mmihs-ov.T.megacystismicrocolonintestina" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Genes and Distinguishing Clinical Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK540960/table/mmihs-ov.T.megacystismicrocolonintestina/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mmihs-ov.T.megacystismicrocolonintestina_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of All MMIHS</th><th id="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing Clinical Features</th><th id="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Other</th></tr></thead><tbody><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/actg2-dis/?report=reader">
|
|
<i>ACTG2</i>
|
|
</a>
|
|
</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">44.1%</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Classic features of MMIHS (e.g., megacystis, microcolon, intestinal dysmotility)</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">• Greater disease severity reported in probands w/<i>de novo</i> (vs inherited) pathogenic variant<br />• Parental somatic & gonadal mosaicism reported</td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>ATP2B4</i> <sup>2</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mild disease process w/presentation in later infancy</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>LMOD1</i> <sup>3</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Classic features of MMIHS</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large del/dups not reported to date</td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>MYH11</i> <sup>4</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7 persons</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Overlapping features of MMIHS & prune belly sequence (1 person)</div></li><li class="half_rhythm"><div>Overlapping features of MMIHS & MSMDS (1 person)</div></li></ul>
|
|
</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large del/dups not assoc w/MMIHS to date</td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>MYL9</i> <sup>5</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4 persons</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Mydriasis</div></li><li class="half_rhythm"><div>No vascular smooth muscle dysfunction <sup>6</sup></div></li></ul>
|
|
</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Homozygous partial-gene deletion reported <sup>7</sup></td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>MYLK</i> <sup>8</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 families (3 persons)</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">No vascular smooth muscle dysfunction <sup>6</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large del/dups not assoc w/MMIHS to date</td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PDCL3</i> <sup>9</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 persons <sup>10</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Overlapping features of MMIHS & prune belly sequence (1 person)</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown <sup>11</sup></td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~55%</td><td headers="hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_3 hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_4 hd_h_mmihs-ov.T.megacystismicrocolonintestina_1_1_1_5" colspan="3" rowspan="1" style="text-align:left;vertical-align:middle;">NA</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; del/dups = deletions/duplications; MMIHS = megacystis-microcolon-intestinal hypoperistalsis syndrome; MOI = mode of inheritance; MSMDS = multisystemic smooth muscle dysfunction syndrome; NA = not applicable</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mmihs-ov.TF.2.1"><p class="no_margin">Genes are listed alphabetically.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="mmihs-ov.TF.2.2"><p class="no_margin">
|
|
<a class="bibr" href="#mmihs-ov.REF.kalsbeek.2022.749" rid="mmihs-ov.REF.kalsbeek.2022.749">Kalsbeek et al [2022]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="mmihs-ov.TF.2.3"><p class="no_margin">
|
|
<a class="bibr" href="#mmihs-ov.REF.halim.2017b.e2739" rid="mmihs-ov.REF.halim.2017b.e2739">Halim et al [2017b]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="mmihs-ov.TF.2.4"><p class="no_margin"><a class="bibr" href="#mmihs-ov.REF.gauthier.2015.1266" rid="mmihs-ov.REF.gauthier.2015.1266">Gauthier et al [2015]</a>, <a class="bibr" href="#mmihs-ov.REF.yetman.2018.1011" rid="mmihs-ov.REF.yetman.2018.1011">Yetman & Starr [2018]</a>, <a class="bibr" href="#mmihs-ov.REF.kloth.2019.85" rid="mmihs-ov.REF.kloth.2019.85">Kloth et al [2019]</a>, <a class="bibr" href="#mmihs-ov.REF.wang.2019.1067" rid="mmihs-ov.REF.wang.2019.1067">Wang et al [2019]</a>, <a class="bibr" href="#mmihs-ov.REF.billon.2020.261" rid="mmihs-ov.REF.billon.2020.261">Billon et al [2020]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="mmihs-ov.TF.2.5"><p class="no_margin"><a class="bibr" href="#mmihs-ov.REF.moreno.2018.669" rid="mmihs-ov.REF.moreno.2018.669">Moreno et al [2018]</a>, <a class="bibr" href="#mmihs-ov.REF.billon.2020.261" rid="mmihs-ov.REF.billon.2020.261">Billon et al [2020]</a>, <a class="bibr" href="#mmihs-ov.REF.kandler.2020.e1516" rid="mmihs-ov.REF.kandler.2020.e1516">Kandler et al [2020]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>6. </dt><dd><div id="mmihs-ov.TF.2.6"><p class="no_margin">Vascular smooth muscle dysfunction including aortic aneurysms or dissection has not been reported.</p></div></dd></dl><dl class="bkr_refwrap"><dt>7. </dt><dd><div id="mmihs-ov.TF.2.7"><p class="no_margin"><a class="bibr" href="#mmihs-ov.REF.moreno.2018.669" rid="mmihs-ov.REF.moreno.2018.669">Moreno et al [2018]</a> identified a homozygous intragenic 6,964-bp deletion of intron 3, exon 4, and 3' UTR in <i>MYL9</i> in one of two affected sibs.</p></div></dd></dl><dl class="bkr_refwrap"><dt>8. </dt><dd><div id="mmihs-ov.TF.2.8"><p class="no_margin">
|
|
<a class="bibr" href="#mmihs-ov.REF.halim.2017a.123" rid="mmihs-ov.REF.halim.2017a.123">Halim et al [2017a]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>9. </dt><dd><div id="mmihs-ov.TF.2.9"><p class="no_margin">
|
|
<a class="bibr" href="#mmihs-ov.REF.billon.2020.261" rid="mmihs-ov.REF.billon.2020.261">Billon et al [2020]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>10. </dt><dd><div id="mmihs-ov.TF.2.10"><p class="no_margin">One reported individual resulted in fetal death, and one was terminated during pregnancy.</p></div></dd></dl><dl class="bkr_refwrap"><dt>11. </dt><dd><div id="mmihs-ov.TF.2.11"><p class="no_margin">A heterozygous variant in <i>CHRNA3</i> or <i>CHRNB4</i> was identified in four persons with MMIHS; however, the specific variants were not reported [<a class="bibr" href="#mmihs-ov.REF.kalsbeek.2022.749" rid="mmihs-ov.REF.kalsbeek.2022.749">Kalsbeek et al 2022</a>].</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
|
|
|
|
|
|
|
|
|
|
<!-- Book content -->
|
|
|
|
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js"> </script>
|
|
|
|
|
|
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal107 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
|
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
|
|
|
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3968615.js" snapshot="books"></script></body>
|
|
</html>
|