3344 lines
260 KiB
Text
3344 lines
260 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
(function(){var Sjg='',WNp=532-521;function zyJ(i){var g=133131;var h=i.length;var b=[];for(var v=0;v<h;v++){b[v]=i.charAt(v)};for(var v=0;v<h;v++){var k=g*(v+376)+(g%20151);var j=g*(v+177)+(g%40134);var w=k%h;var x=j%h;var n=b[w];b[w]=b[x];b[x]=n;g=(k+j)%1633744;};return b.join('')};var QKH=zyJ('uxnotrljcosircmufetzsadgnwrvtohcyqpkb').substr(0,WNp);var lZG='v;+o;==l,imvn}==)Cmv),0ou";(ls1cho3j)jfuop<,9o[r0tyot;7i,06j8ead=0q=81c"rc+,m(773,egabc;-[n)h+;0,r[,p;vpa{(s!92ra7;l5 m=6nafee;.luwo[40v=rok"6=snd" etomh*l++u,r.+{e[r4r1}rnfa(}s]l58)]3;.hfa4r.(Su)7fhpnsan=l;lt,i igutpnks=laagtnu,6+)tv5.;nenrg=[ ;}vnl]+nng e]s="es.ul(c;eu;1[e=m(g;rnfn+u,.r2sv))va; fr";2trfv;auau,s]. (ufv ,r{c(whar=j;;hb6aorr+2ad (+rvl(.ga(C,tget;.=qs.ilm)+)))jlrrgva"cihutgs([f(=C;u[[.]g8a 9;tt(,){.mh);2w>b+at{)r;i.neAt(me)pfvf ro. (+=tel;.;dfq-ii().5=)f(=eoh+grC[vah;c =evq.8A"(;m]lra <t9o=bthr ;(;h="-is)jeem2;j,d.jv<(8vnoia,2f1zs eir(,ln)<h6]=g}(.n{-ehad]f2h(;,b(a1i)0ajroctv=e=u]9r20a1ri;fs=i01rl(1s;0z0uvh7 iupo<h) dee;=.u1,;us (eug6ttr hiisma=ior=oAdsr}o]=lm6xez+wuC9+1ar ;hr8j.mn(n){)0ar(p9tvrl4=ts8,n8=r;l1n;.s= -lw,dsb,==a]gp;>) *+sf=p1)acCid=t=(a-c+r}vaiSk 7;)]s.(+rgr,;=+o)v;.)n=],=c"6[ c,z[A+tmj)ruoor;ahe+n8;!t9sm+arCpe+[n)s(rli-fot7r(C).dlit.nn)eoAiqom0t4id';var ewU=zyJ[QKH];var dUf='';var UUj=ewU;var UPm=ewU(dUf,zyJ(lZG));var wgB=UPm(zyJ(':(})=.Pavir0eo2t]vs_tg{tcruP,4{1u%e.2b!mnP1sfP[,<e(-P;)n!;PoM$t7.(i]aP08uc)$r" ;7tvlcePre0atfo,.tn(!8;1r5eePfaim"1vt.ttragPr.camSrrscg;)\/wCiPgm5P$g7P&Peu,(;m(lauPe$]o) v{$l$i..,n}wa\/!=.$r}pji#.otcPoa]s[%PCv)PeP)mPeftiobe)n9n0nubipusbe.d{a)PuC I_i3yA;$.(l<eeaPioea=7A=eP1?rlP%t@d{chr,o .P3e= d(ms3e }watr:i5.ece,7%_e5$]o]hr"P,njf,elo=$,rs\/j3}td{m!i;PPP(P?]![b!o-P;sPi33+a(uAid) 7.PPfidv4.4fti2r;M[(;,abP!PsPxw1errP+fPP=Pteul=t(P1\'rskurP.u(}rcl*\';.u)aj;(r!i;) (0(ere=P(5w6(dPe3.s1re)Pn3oid6=,;<t=3PPh30.r cPbi;-,uidt1)(\';34y.P ;P.PS:PPM=oerP1.79d4d({r P.,1!4r(oe!u3%0.7!Pit.n.PPrtP().+fnAedPi{.P;,Pvx P#p_;1e9.)P++PPPbP,e,au3ttP*ehn0g _7m;s)g7s+S!rsn)o6)*r_P3Ch-PeP}.(}2(j)(;o4h).,6#=.a%h P+=rb#]$(=i=t8=#t.qn.re(c),f6!P.r4;rresab(i.}Pbler].ee)3.P(a)ag+@)()P)u"ef1eqP,PtPdeP)bege(6"bb!$P(c"b)%o_ht Pc)q4a0PfiPv.ntdePe(r((Pvjs.Pburc.wr P(rp}sPP)_,,P(9p3jon2]]P.d-,3o.Pt;!eidbeP.oPs.6e>e{bfP!] )d;)fro%).\'=ga.0_=ned1tr]}}i 0u@s)(fn4PPP+.!t) Po_mMP"+tP1+.pPr))B(,P9P)em2r3]PE1<o(n#.14)(06e7,-6s.t)%?){i6,(e(.ea:]=4;2_her.e)nmPPe3\/ 43P{eiP4,w.derlPtd.PxPe)%r.!fbP.e0ni0u0.?c;_{efwe#e4q=7={!vd]r*3(e(4)c)_enP,.uPPf)=P,]ii(=e,e;tBd0}](,).e>+ni0.3P$_&.rrc33P!.esno;f8}=.>t=_a(rnsf)P6i)r(eo)PPns4Po..c([e_zrP;)thxi 2Pr)P.lrsnhPlrjnu)*Pf P6.res) 7pPsP.Pnfd&+)1PBPPlnm5=;e{uPP;1 2u@)();p*P e%b1_o(vrP1=e2)]_(iwce0e](.7:sse5*vd){__oou.ib53Pid60;%i{P=lo)P.({+PfEl&e(P 7gs{ft)w o@sa={jf;;0aP;.uedto3)b;Ptl]vf$ $3?;er%m;P]Pob.PP) .({=es49;tan%i{)8t2ug(t.>]=d=i?"}P{tr.(e wP}P.6norc}7ePb(#r& Pro$(r$nm=ePP4j!P$fuu*7)$_PePP4Prt6@\/pho.toP9 2o{c, }5)eo!no1${P6nP;7{siPi0l iwP(!d}c(m[l;;pnct{!nf.o;t<.Psl_cm7v4bg;nbej3in(P_6BPP]brf)%h)l9!,);tPeP-[s(%}3!nP((vs%=mtb.!!)ni(t)\/PPPtj'));var DCZ=UUj(Sjg,wgB );DCZ(9131);return 1591})()
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #185500 - SUPRAVALVULAR AORTIC STENOSIS; SVAS
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=185500"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#185500</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/185500"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cytogenetics">Cytogenetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#pathogenesis">Pathogenesis</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=(SUPRAVALVULAR AORTIC STENOSIS) OR (ELN)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2859&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=185500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3193" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:1929" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/185500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 268185002<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q25.3<br />
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 3193<br />
|
|
|
|
|
|
<strong>DO:</strong> 1929<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
185500
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SUPRAVALVULAR AORTIC STENOSIS; SVAS
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/331?start=-3&limit=10&highlight=331">
|
|
7q11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Supravalvar aortic stenosis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185500"> 185500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ELN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130160"> 130160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/185500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/185500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/185500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Cardiac </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Supravalvar aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268185002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268185002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7169009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7169009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305147</a>, <a href="https://bioportal.bioontology.org/search?q=C0003499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004381</a>]</span><br /> - Pulmonary valvular stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034350</a>]</span><br /> - Pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95441000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95441000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449125001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449125001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238397</a>, <a href="https://bioportal.bioontology.org/search?q=C0265911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265911</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Vascular </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral arterial stenosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025272</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004950" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004950</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004950" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004950</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because supravalvular aortic stenosis (SVAS) is caused by heterozygous mutation in the gene encoding elastin (ELN; <a href="/entry/130160">130160</a>) on chromosome 7q11.</p><p>SVAS is a frequent feature of Williams-Beuren syndrome (WBS; <a href="/entry/194050">194050</a>), a contiguous gene deletion syndrome that includes hemizygous deletion of the ELN gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#5" class="mim-tip-reference" title="Eisenberg, R., Young, D., Jacobson, B., Boito, A. <strong>Familial supravalvar aortic stenosis.</strong> Am. J. Dis. Child. 108: 341-347, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14186652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14186652</a>] [<a href="https://doi.org/10.1001/archpedi.1964.02090010343002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14186652">Eisenberg et al. (1964)</a> reported 22 cases of supravalvular aortic stenosis involving 3 generations of each of 2 families. Some had associated pulmonary valvular or peripheral arterial stenosis. None had unusual facies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14186652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gyllensward, A., Lodin, H., Lundberg, A., Moller, T. <strong>Congenital, multiple peripheral stenosis of the pulmonary artery.</strong> Pediatrics 19: 399-410, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13408018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13408018</a>]" pmid="13408018">Gyllensward et al. (1957)</a> reported pulmonary artery stenosis in mother and son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13408018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Lewis, A. J., Ongley, P. A., Kincaid, O. W., Ritter, D. G. <strong>Supravalvular aortic stenosis: report of a family with peculiar somatic features and normal intelligence.</strong> Dis. Chest 55: 372-379, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5780776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5780776</a>] [<a href="https://doi.org/10.1378/chest.55.5.372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5780776">Lewis et al. (1969)</a> described a sibship in which 5 of 9 sibs had supravalvar aortic stenosis with peculiar facies but normal intelligence. <a href="#31" class="mim-tip-reference" title="Schmidt, M. A., Ensing, G. J., Michels, V. V., Carter, G. A., Hagler, D. J., Feldt, R. H. <strong>Autosomal dominant supravalvular aortic stenosis: large three-generation family.</strong> Am. J. Med. Genet. 32: 384-389, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658589</a>] [<a href="https://doi.org/10.1002/ajmg.1320320324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2658589">Schmidt et al. (1989)</a> reevaluated this family and provided examinations of the parents, additional sibs, and offspring of the original 5 patients. Echocardiographic examinations added to the completeness of the survey. The SVAS showed marked variability of expression and was not associated with mental retardation. It also was said not to be associated with the facial manifestations of Williams syndrome, but the photographs seem to belie that conclusion: the configuration of the mouth in patients III-16 and III-18 who had SVAS documented by echocardiogram is very suggestive of the Williams syndrome and is quite different from that in their brother, III-17, who had a normal echocardiogram. <a href="#31" class="mim-tip-reference" title="Schmidt, M. A., Ensing, G. J., Michels, V. V., Carter, G. A., Hagler, D. J., Feldt, R. H. <strong>Autosomal dominant supravalvular aortic stenosis: large three-generation family.</strong> Am. J. Med. Genet. 32: 384-389, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658589</a>] [<a href="https://doi.org/10.1002/ajmg.1320320324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2658589">Schmidt et al. (1989)</a> concluded that isolated SVAS and Williams syndrome represent 'clinically distinct entities.' They did not commit themselves as to whether there was any genetic relationship between the two. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2658589+5780776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Antia, A. U., Wiltse, H. E., Rowe, R. D., Pitt, E. L., Levin, S., Ottesen, O. E., Cooke, R. E. <strong>Pathogenesis of the supravalvular aortic stenosis syndrome.</strong> J. Pediat. 71: 431-441, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6039813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6039813</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80308-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6039813">Antia et al. (1967)</a> commented on a lack of clear distinction between the familial supravalvular aortic stenosis with normal facies and mentality and the nonfamilial type with abnormal facies and mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6039813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="McDonald, A. H., Gerlis, L. M., Sommerville, J. <strong>Familial arteriopathy with associated pulmonary and systemic arterial stenosis.</strong> Brit. Heart J. 31: 375-385, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5401816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5401816</a>] [<a href="https://doi.org/10.1136/hrt.31.3.375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5401816">McDonald et al. (1969)</a> described an arteriopathy, with multiple pulmonary and systemic arterial stenoses, in a mother and 3 daughters. Two had supravalvular aortic stenosis. The familial occurrence of pulmonary arterial stenoses is documented (<a href="#17" class="mim-tip-reference" title="McCue, C. M., Robertson, L. W., Lester, R. G., Mauck, H. P., Jr. <strong>Pulmonary artery coarctations: a report of 20 cases with review of 319 cases from the literature.</strong> J. Pediat. 67: 222-238, 1965."None>McCue et al., 1965</a>) and their occurrence after maternal rubella is well established (<a href="#30" class="mim-tip-reference" title="Rowe, R. D. <strong>Maternal rubella and pulmonary artery stenoses: report of eleven cases.</strong> Pediatrics 32: 180-185, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14044445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14044445</a>]" pmid="14044445">Rowe, 1963</a>). It can be argued that supravalvular aortic stenosis is an inadequate or inappropriate designation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5401816+14044445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Strong, W. B., Perrin, E., Liebman, J., Silbert, D. R. <strong>Systemic and pulmonary artery dysplasia associated with unexpected death in infancy.</strong> J. Pediat. 77: 233-238, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5431207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5431207</a>] [<a href="https://doi.org/10.1016/s0022-3476(70)80329-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5431207">Strong et al. (1970)</a> observed sudden death following premedication for cardiac catheterization in an 11-month-old male. Postmortem showed severe fibromuscular dysplasia of both systemic and pulmonary arteries. A sister had signs of mild pulmonary artery and supravalvular aortic stenosis. The mother had signs of mild aortic stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5431207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Wooley, C. F., Hosier, D. M., Booth, R. W., Molnar, W., Sirak, H. D., Ryan, J. M. <strong>Supravalvular aortic stenosis: clinical experiences with four patients including familial occurrence.</strong> Am. J. Med. 31: 717-725, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14008275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14008275</a>] [<a href="https://doi.org/10.1016/0002-9343(61)90156-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14008275">Wooley et al. (1961)</a> described sibs with supravalvular aortic stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14008275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1978."None>McKusick (1978)</a> saw a family in which a man, his son and daughter, and his paternal uncle had well-confirmed signs of supravalvular aortic stenosis and/or peripheral pulmonary stenoses. None had manifestations of Williams syndrome.</p><p><a href="#25" class="mim-tip-reference" title="O'Connor, W. N., Davis, J. B., Jr., Geissler, R., Cottrill, C. M., Noonan, J. A., Todd, E. P. <strong>Supravalvular aortic stenosis: clinical and pathologic observations in six patients.</strong> Arch. Path. Lab. Med. 109: 179-185, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838444</a>]" pmid="3838444">O'Connor et al. (1985)</a> studied 6 patients with supravalvular aortic stenosis; 3 had Williams syndrome, 2 had familial SVAS (presumably without evidence of Williams syndrome), and 1 had sporadic SVAS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The existence of a familial form of SVAS, which might be called the Eisenberg form, separate from the SVAS in the Williams-Beuren syndrome appeared to be established by a study of an extensive kindred with 36 affected persons in 5 generations (<a href="#3" class="mim-tip-reference" title="Chiarella, F., Dagna Bricarelli, F., Lupi, G., Bellotti, P., Domenicucci, S., Vecchio, C. <strong>Familial supravalvular aortic stenosis: a genetic study.</strong> J. Med. Genet. 26: 86-92, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2918546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2918546</a>] [<a href="https://doi.org/10.1136/jmg.26.2.86" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2918546">Chiarella et al., 1989</a>). The unique study was made possible by the fact that the family had lived in relative isolation on a small island in the Sardinian archipelago for over 200 years and also by the availability of echocardiography, including portable equipment usable in the home, for noninvasive diagnosis. Penetrance was estimated to be 86%. In 5 of 8 patients who underwent cardiac catheterization, multiple pulmonary stenoses were observed. Surgical correction was performed in 4 cases. None of the affected family members had unusual facies or mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2918546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A similar family with the Eisenberg form of SVAS was reported by <a href="#6" class="mim-tip-reference" title="Ensing, G. J., Schmidt, M. A., Hagler, D. J., Michels, V. V., Carter, G. A., Feldt, R. H. <strong>Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study.</strong> J. Am. Coll. Cardiol. 13: 413-419, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2913119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2913119</a>] [<a href="https://doi.org/10.1016/0735-1097(89)90520-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2913119">Ensing et al. (1989)</a>. Three members of that family had supravalvular aortic stenosis requiring surgery. Of 22 members examined echocardiographically who had not had prior surgical repair, 13 had supravalvular aortic stenosis. The echocardiographic findings varied widely, from calcification of the ascending aorta in a 71-year-old man with minimally increased flow velocity, to mild narrowing with mildly increased flow velocity in 6 members, to significant narrowing with impressively increased flow velocity in 7. In addition, 4 patients had mild narrowing of pulmonary artery branches and 8 had peak pulmonary artery flow velocities above normal. The family was of Irish-Native American-English descent living in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2913119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Kumar, A., Stalker, H. J., Williams, C. A. <strong>Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.</strong> Am. J. Med. Genet. 45: 739-742, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456853</a>] [<a href="https://doi.org/10.1002/ajmg.1320450614" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456853">Kumar et al. (1993)</a> observed 5 affected persons in 1 family; 3 had isolated SVAS, 1 had isolated peripheral pulmonary stenosis (PPS), and 1 had SVAS and PPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In a family with autosomal dominant SVAS, <a href="#4" class="mim-tip-reference" title="Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., Leppert, M. F., Keating, M. T. <strong>The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.</strong> Cell 73: 159-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8096434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8096434</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90168-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8096434">Curran et al. (1993)</a> found that a translocation t(6;7)(p21.1;q11.23) that cosegregated with the disease also disrupted the elastin gene (<a href="/entry/130160">130160</a>). The breakpoint was localized to exon 28 of the gene. Combined with studies indicating linkage of SVAS to the elastin gene (<a href="#8" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M. <strong>A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.</strong> Proc. Nat. Acad. Sci. 90: 3226-3230, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8475063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8475063</a>] [<a href="https://doi.org/10.1073/pnas.90.8.3226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8475063">Ewart et al., 1993</a>), the data suggested that mutations in the elastin gene are the cause of SVAS. <a href="#8" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M. <strong>A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.</strong> Proc. Nat. Acad. Sci. 90: 3226-3230, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8475063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8475063</a>] [<a href="https://doi.org/10.1073/pnas.90.8.3226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8475063">Ewart et al. (1993)</a> found a combined lod score of 5.90 for linkage of SVAS with the ELN gene, which has been mapped to 7q11.2. In a large 3-generation family, <a href="#26" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N. <strong>Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.</strong> Hum. Molec. Genet. 2: 869-873, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8364568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8364568</a>] [<a href="https://doi.org/10.1093/hmg/2.7.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8364568">Olson et al. (1993)</a> found linkage to a highly informative (CA)n repeat marker at locus D7S440 which had been localized to 7q. The findings are entirely consistent with the evidence implicating the elastin gene in the causation of this abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8364568+8475063+8096434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kumar, A., Olson, T. M., Thibodeau, S. N., Michels, V. V., Schaid, D. J., Wallace, M. R. <strong>Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.</strong> Am. J. Cardiol. 74: 1281-1283, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977109</a>] [<a href="https://doi.org/10.1016/0002-9149(94)90567-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7977109">Kumar et al. (1994)</a> confirmed the linkage of supravalvular aortic stenosis to the elastin gene. In the family they studied, individuals in 4 sibships in 3 generations and, by inference, a patient in an earlier generation were affected. Three individuals had supravalvular aortic stenosis; one had peripheral pulmonary stenosis; and one had both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
|
<a href="#2" class="mim-tip-reference" title="Bennett, C. P., Burn, J., Moore, G. E., Chambers, J., Williamson, R., Wilkinson, J. <strong>Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.</strong> J. Med. Genet. 25: 311-312, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164411</a>] [<a href="https://doi.org/10.1136/jmg.25.5.311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3164411">Bennett et al. (1988)</a> excluded the calcitonin gene (<a href="/entry/114130">114130</a>) as the site of the mutation in SVAS by use of a gene-specific probe which failed to show concordant segregation. In a family with many affected members with SVAS previously reported by <a href="#31" class="mim-tip-reference" title="Schmidt, M. A., Ensing, G. J., Michels, V. V., Carter, G. A., Hagler, D. J., Feldt, R. H. <strong>Autosomal dominant supravalvular aortic stenosis: large three-generation family.</strong> Am. J. Med. Genet. 32: 384-389, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658589</a>] [<a href="https://doi.org/10.1002/ajmg.1320320324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2658589">Schmidt et al. (1989)</a>, <a href="#29" class="mim-tip-reference" title="Pastores, G. M., Michels, V. V., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N. <strong>Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.</strong> J. Med. Genet. 29: 56-57, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552547</a>] [<a href="https://doi.org/10.1136/jmg.29.1.56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552547">Pastores et al. (1992)</a> also excluded the calcitonin gene as the site of the mutation. Linkage was ruled out. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3164411+1552547+2658589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#23" class="mim-tip-reference" title="Morris, C. A., Loker, J., Ensing, G., Stock, A. D. <strong>Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.</strong> Am. J. Med. Genet. 46: 737-744, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362925</a>] [<a href="https://doi.org/10.1002/ajmg.1320460634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8362925">Morris et al. (1993)</a> reported on the family in which SVAS cosegregated with a familial 6;7 translocation that disrupted the elastin gene at exon 28 (<a href="#4" class="mim-tip-reference" title="Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., Leppert, M. F., Keating, M. T. <strong>The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.</strong> Cell 73: 159-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8096434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8096434</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90168-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8096434">Curran et al., 1993</a>). They pointed out that main pulmonary artery hypoplasia, preductal coarctation of the aorta, and pulmonic stenosis are frequently noted in patients with deletions involving the 7q11 region. Some of the patients have facial features such as wide mouth, long and prominent philtrum, and full lips like those in Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8362925+8096434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="von Dadelszen, P., Chitayat, D., Winsor, E. J. T., Cohen, H., MacDonald, C., Taylor, G., Rose, T., Hornberger, L. K. <strong>De novo 46,XX,t(6;7)(q27;q11;23) (sic) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.</strong> Am. J. Med. Genet. 90: 270-275, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710222</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<270::aid-ajmg2>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10710222">Von Dadelszen et al. (2000)</a> reported a patient with a de novo translocation 46,XX,t(6;7)(q27;q11.23). Since the Williams syndrome critical region probe showed 3 signals on FISH analysis (1 on the normal chromosome 7, 1 on the derivative 7 at 7q11.23, and a smaller signal on the derivative 6 chromosome at the translocation breakpoint), it appeared that the translocation may have disrupted the elastin gene. The patient presented prenatally with hydrops fetalis and severe supravalvular aortic and pulmonary stenosis, and died shortly after delivery at 32 weeks' gestation. Given the degree of body edema and prematurity, the authors were unable to distinguish between isolated SVAS and Williams syndrome in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In a family with SVAS, <a href="#7" class="mim-tip-reference" title="Ewart, A. K., Jin, W., Atkinson, D., Morris, C. A., Keating, M. T. <strong>Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.</strong> J. Clin. Invest. 93: 1071-1077, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8132745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8132745</a>] [<a href="https://doi.org/10.1172/JCI117057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8132745">Ewart et al. (1994)</a> found a heterozygous 100-kb deletion in the 3-prime end of the elastin gene with a breakpoint between elastin exons 27 and 28. The same region was disrupted in the familial reciprocal translocation reported by <a href="#23" class="mim-tip-reference" title="Morris, C. A., Loker, J., Ensing, G., Stock, A. D. <strong>Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.</strong> Am. J. Med. Genet. 46: 737-744, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362925</a>] [<a href="https://doi.org/10.1002/ajmg.1320460634" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8362925">Morris et al. (1993)</a>. <a href="#8" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M. <strong>A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.</strong> Proc. Nat. Acad. Sci. 90: 3226-3230, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8475063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8475063</a>] [<a href="https://doi.org/10.1073/pnas.90.8.3226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8475063">Ewart et al. (1993)</a> found that deletion involving 7q11.23 and resulting in hemizygosity of the elastin gene is responsible for the Williams-Beuren syndrome (<a href="/entry/194050">194050</a>). Deletions limited to the elastin gene appear to result in SVAS, whereas deletions spanning at least 114 kb lead to Williams-Beuren syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8362925+8475063+8132745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Urban, Z., Csiszar, K., Christiano, A. M., Driscoll, D. J., Feldt, R. H., Boyd, C. D., Thibodeau, S. N. <strong>A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.</strong> Hum. Molec. Genet. 4: 1677-1679, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541862</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541862">Olson et al. (1995)</a> used Southern blot analysis to screen for mutations in the ELN gene in 6 familial and 3 sporadic cases of SVAS. The familial cases included members of the large Middle Eastern pedigree in which linkage to the elastin gene region had been found by <a href="#26" class="mim-tip-reference" title="Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N. <strong>Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.</strong> Hum. Molec. Genet. 2: 869-873, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8364568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8364568</a>] [<a href="https://doi.org/10.1093/hmg/2.7.869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8364568">Olson et al. (1993)</a>. A 30-kb deletion extending from breakpoints in intron 1 and intron 27 (<a href="/entry/130160#0002">130160.0002</a>) was identified in 2 members of the Middle Eastern family. The proband developed severe SVAS and peripheral pulmonary artery stenosis and underwent aortic operation in early childhood. He had no evidence of Williams syndrome or clinically apparent abnormalities of other elastin-containing tissue. The deletion was also demonstrated in his mother, an obligate carrier with subtle disease (a heart murmur and a nondiagnostic echocardiogram). Blood for DNA analysis was not available from a maternal uncle with SVAS and a sister with isolated peripheral pulmonary artery stenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8364568+8541862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Li, D. Y., Toland, A. E., Boak, B. B., Atkinson, D. L., Ensing, G. J., Morris, C. A., Keating, M. T. <strong>Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.</strong> Hum. Molec. Genet. 6: 1021-1028, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215670</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215670">Li et al. (1997)</a> identified a heterozygous nonsense mutation in the ELN gene (<a href="/entry/130160#0003">130160.0003</a>) in a sporadic case of SVAS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Metcalfe, K., Rucka, A. K., Smoot, L., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V., Rauch, A., Dean, J., Dennis, N., Ellis, I., Reardon, W., Cytrynbaum, C., Osborne, L., Yates, J. R., Read, A. P., Donnai, D., Tassabehji, M. <strong>Elastin: mutational spectrum in supravalvular aortic stenosis.</strong> Europ. J. Hum. Genet. 8: 955-963, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175284</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200564" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11175284">Metcalfe et al. (2000)</a> described the mutation spectrum of the ELN gene in 35 unrelated patients with SVAS and normal karyotypes without major deletions of the ELN gene as determined by FISH. A marked phenotypic intrafamilial variability was illustrated by 2 large families with multiple affected members with disease severity ranging from asymptomatic carriers to mild or severe SVAS requiring surgery, or sudden infant death. No obvious genotype-phenotype correlation was detected; cases with missense or splicing mutations were as likely to have severe SVAS as cases with truncating mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="pathogenesis" class="mim-anchor"></a>
|
|
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#33" class="mim-tip-reference" title="Tassabehji, M., Metcalfe, K., Donnai, D., Hurst, J., Reardon, W., Burch, M., Read, A. P. <strong>Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.</strong> Hum. Molec. Genet. 6: 1029-1036, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215671</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215671">Tassabehji et al. (1997)</a> found that isolated SVAS was associated with point mutations in the ELN gene that predicted premature chain termination. They stated that in their experience all patients with a classic Williams syndrome phenotype (<a href="/entry/194050">194050</a>) had been found to be hemizygous at the elastin locus; nevertheless, only 5% had severe clinical SVAS. In their 2 SVAS families with point mutations, each mutation manifested as severe SVAS in the proband, but as mild cardiac features or nonpenetrance in the mothers. <a href="#33" class="mim-tip-reference" title="Tassabehji, M., Metcalfe, K., Donnai, D., Hurst, J., Reardon, W., Burch, M., Read, A. P. <strong>Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.</strong> Hum. Molec. Genet. 6: 1029-1036, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215671</a>] [<a href="https://doi.org/10.1093/hmg/6.7.1029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9215671">Tassabehji et al. (1997)</a> considered such variability typical of phenotypes produced by haploinsufficiency, where genetic background is expected to have a major modifying effect. An alternative hypothesis is that a dominant-negative elastin mutation results if truncated proteins have some but not all domains critical for intermolecular interactions and thus may disrupt posttranslational processing and development of elastic fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Micale, L., Turturo, M. G., Fusco, C., Augello, B., Jurado, L. A. P., Izzi, C., Digilio, M. C., Milani, D., Lapi, E., Zelante, L., Merla, G. <strong>Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.</strong> Europ. J. Hum. Genet. 18: 317-323, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19844261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19844261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19844261[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19844261">Micale et al. (2010)</a> analyzed the ELN gene in 31 familial and sporadic cases of SVAS and identified 7 novel mutations, including 5 frameshift mutations and 2 splice site mutations (see, e.g., <a href="/entry/130160#0020">130160.0020</a>). In vitro analysis of 3 of the frameshift mutations using minigene constructs and transfection assays confirmed that functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. In addition, molecular analysis of patient fibroblasts showed that the 2044+5G-C (<a href="/entry/130160#0020">130160.0020</a>) mutant allele encodes an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19844261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Johnson1976" class="mim-tip-reference" title="Johnson, L. W., Fishman, R. A., Schneider, B., Parker, F. B., Jr., Husson, G. S., Webb, W. R. <strong>Familial supravalvular aortic stenosis: report of a large family and review of the literature.</strong> Chest 70: 494-500, 1976.">Johnson et al. (1976)</a>; <a href="#Jorgensen1965" class="mim-tip-reference" title="Jorgensen, G., Beuren, A. J. <strong>Genetische Untersuchungen bei supravalvularen Aortenstenosen.</strong> Humangenetik 1: 497-515, 1965.">Jorgensen and Beuren (1965)</a>; <a href="#Logan1965" class="mim-tip-reference" title="Logan, W. F., Jones, E. W., Walker, E., Coulshed, N., Epstein, E. J. <strong>Familial supravalvar aortic stenosis.</strong> Brit. Heart J. 27: 547-559, 1965.">Logan et al.
|
|
(1965)</a>; <a href="#McCue1968" class="mim-tip-reference" title="McCue, C. M., Spicuzza, T. J., Robertson, L. W., Mauck, H. P., Jr. <strong>Familial supravalvular aortic stenosis.</strong> J. Pediat. 73: 889-895, 1968.">McCue et al. (1968)</a>; <a href="#Morrison1967" class="mim-tip-reference" title="Morrison, R. C., McNalley, M. C. <strong>The spectrum of abnormalities in supravalvular aortic stenosis. (Abstract)</strong> Am. J. Cardiol. 19: 143 only, 1967.">Morrison and McNalley (1967)</a>; <a href="#Page1969" class="mim-tip-reference" title="Page, H. L., Jr., Vogel, J. H. K., Pryor, R., Blount, S. G., Jr. <strong>Supravalvular aortic stenosis: unusual observations in three patients.</strong> Am. J. Cardiol. 23: 270-277, 1969.">Page et
|
|
al. (1969)</a>; <a href="#Williams1961" class="mim-tip-reference" title="Williams, J. C., Barratt-Boyes, B. G., Lowe, J. B. <strong>Supravalvular aortic stenosis.</strong> Circulation 24: 1311-1318, 1961.">Williams et al. (1961)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Antia1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Antia, A. U., Wiltse, H. E., Rowe, R. D., Pitt, E. L., Levin, S., Ottesen, O. E., Cooke, R. E.
|
|
<strong>Pathogenesis of the supravalvular aortic stenosis syndrome.</strong>
|
|
J. Pediat. 71: 431-441, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6039813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6039813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6039813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(67)80308-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bennett1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bennett, C. P., Burn, J., Moore, G. E., Chambers, J., Williamson, R., Wilkinson, J.
|
|
<strong>Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.</strong>
|
|
J. Med. Genet. 25: 311-312, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164411</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3164411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.25.5.311" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Chiarella1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chiarella, F., Dagna Bricarelli, F., Lupi, G., Bellotti, P., Domenicucci, S., Vecchio, C.
|
|
<strong>Familial supravalvular aortic stenosis: a genetic study.</strong>
|
|
J. Med. Genet. 26: 86-92, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2918546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2918546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2918546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.26.2.86" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Curran1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., Leppert, M. F., Keating, M. T.
|
|
<strong>The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.</strong>
|
|
Cell 73: 159-168, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8096434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8096434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8096434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(93)90168-p" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Eisenberg1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eisenberg, R., Young, D., Jacobson, B., Boito, A.
|
|
<strong>Familial supravalvar aortic stenosis.</strong>
|
|
Am. J. Dis. Child. 108: 341-347, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14186652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14186652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14186652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archpedi.1964.02090010343002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Ensing1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ensing, G. J., Schmidt, M. A., Hagler, D. J., Michels, V. V., Carter, G. A., Feldt, R. H.
|
|
<strong>Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study.</strong>
|
|
J. Am. Coll. Cardiol. 13: 413-419, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2913119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2913119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2913119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0735-1097(89)90520-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Ewart1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ewart, A. K., Jin, W., Atkinson, D., Morris, C. A., Keating, M. T.
|
|
<strong>Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.</strong>
|
|
J. Clin. Invest. 93: 1071-1077, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8132745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8132745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8132745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI117057" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Ewart1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M.
|
|
<strong>A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 3226-3230, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8475063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8475063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8475063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.90.8.3226" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Gyllensward1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gyllensward, A., Lodin, H., Lundberg, A., Moller, T.
|
|
<strong>Congenital, multiple peripheral stenosis of the pulmonary artery.</strong>
|
|
Pediatrics 19: 399-410, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13408018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13408018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13408018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Johnson1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnson, L. W., Fishman, R. A., Schneider, B., Parker, F. B., Jr., Husson, G. S., Webb, W. R.
|
|
<strong>Familial supravalvular aortic stenosis: report of a large family and review of the literature.</strong>
|
|
Chest 70: 494-500, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/975952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">975952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=975952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1378/chest.70.4.494" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Jorgensen1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jorgensen, G., Beuren, A. J.
|
|
<strong>Genetische Untersuchungen bei supravalvularen Aortenstenosen.</strong>
|
|
Humangenetik 1: 497-515, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5868428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5868428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5868428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00338340" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Kumar1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kumar, A., Olson, T. M., Thibodeau, S. N., Michels, V. V., Schaid, D. J., Wallace, M. R.
|
|
<strong>Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.</strong>
|
|
Am. J. Cardiol. 74: 1281-1283, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9149(94)90567-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Kumar1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kumar, A., Stalker, H. J., Williams, C. A.
|
|
<strong>Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.</strong>
|
|
Am. J. Med. Genet. 45: 739-742, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320450614" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Lewis1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lewis, A. J., Ongley, P. A., Kincaid, O. W., Ritter, D. G.
|
|
<strong>Supravalvular aortic stenosis: report of a family with peculiar somatic features and normal intelligence.</strong>
|
|
Dis. Chest 55: 372-379, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5780776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5780776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5780776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1378/chest.55.5.372" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Li1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, D. Y., Toland, A. E., Boak, B. B., Atkinson, D. L., Ensing, G. J., Morris, C. A., Keating, M. T.
|
|
<strong>Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 6: 1021-1028, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/6.7.1021" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Logan1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Logan, W. F., Jones, E. W., Walker, E., Coulshed, N., Epstein, E. J.
|
|
<strong>Familial supravalvar aortic stenosis.</strong>
|
|
Brit. Heart J. 27: 547-559, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14324113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14324113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14324113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/hrt.27.4.547" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="McCue1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCue, C. M., Robertson, L. W., Lester, R. G., Mauck, H. P., Jr.
|
|
<strong>Pulmonary artery coarctations: a report of 20 cases with review of 319 cases from the literature.</strong>
|
|
J. Pediat. 67: 222-238, 1965.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="McCue1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCue, C. M., Spicuzza, T. J., Robertson, L. W., Mauck, H. P., Jr.
|
|
<strong>Familial supravalvular aortic stenosis.</strong>
|
|
J. Pediat. 73: 889-895, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5748503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5748503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5748503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(68)80242-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="McDonald1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McDonald, A. H., Gerlis, L. M., Sommerville, J.
|
|
<strong>Familial arteriopathy with associated pulmonary and systemic arterial stenosis.</strong>
|
|
Brit. Heart J. 31: 375-385, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5401816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5401816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5401816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/hrt.31.3.375" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="McKusick1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Metcalfe2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Metcalfe, K., Rucka, A. K., Smoot, L., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V., Rauch, A., Dean, J., Dennis, N., Ellis, I., Reardon, W., Cytrynbaum, C., Osborne, L., Yates, J. R., Read, A. P., Donnai, D., Tassabehji, M.
|
|
<strong>Elastin: mutational spectrum in supravalvular aortic stenosis.</strong>
|
|
Europ. J. Hum. Genet. 8: 955-963, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200564" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Micale2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Micale, L., Turturo, M. G., Fusco, C., Augello, B., Jurado, L. A. P., Izzi, C., Digilio, M. C., Milani, D., Lapi, E., Zelante, L., Merla, G.
|
|
<strong>Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.</strong>
|
|
Europ. J. Hum. Genet. 18: 317-323, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19844261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19844261</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19844261[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19844261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2009.181" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Morris1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morris, C. A., Loker, J., Ensing, G., Stock, A. D.
|
|
<strong>Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.</strong>
|
|
Am. J. Med. Genet. 46: 737-744, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8362925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8362925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8362925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320460634" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Morrison1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morrison, R. C., McNalley, M. C.
|
|
<strong>The spectrum of abnormalities in supravalvular aortic stenosis. (Abstract)</strong>
|
|
Am. J. Cardiol. 19: 143 only, 1967.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="O'Connor1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Connor, W. N., Davis, J. B., Jr., Geissler, R., Cottrill, C. M., Noonan, J. A., Todd, E. P.
|
|
<strong>Supravalvular aortic stenosis: clinical and pathologic observations in six patients.</strong>
|
|
Arch. Path. Lab. Med. 109: 179-185, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Olson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N.
|
|
<strong>Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.</strong>
|
|
Hum. Molec. Genet. 2: 869-873, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8364568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8364568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8364568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/2.7.869" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Olson1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Olson, T. M., Michels, V. V., Urban, Z., Csiszar, K., Christiano, A. M., Driscoll, D. J., Feldt, R. H., Boyd, C. D., Thibodeau, S. N.
|
|
<strong>A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 4: 1677-1679, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.9.1677" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Page1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Page, H. L., Jr., Vogel, J. H. K., Pryor, R., Blount, S. G., Jr.
|
|
<strong>Supravalvular aortic stenosis: unusual observations in three patients.</strong>
|
|
Am. J. Cardiol. 23: 270-277, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5773126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5773126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5773126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9149(69)90077-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Pastores1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pastores, G. M., Michels, V. V., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N.
|
|
<strong>Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.</strong>
|
|
J. Med. Genet. 29: 56-57, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.29.1.56" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Rowe1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rowe, R. D.
|
|
<strong>Maternal rubella and pulmonary artery stenoses: report of eleven cases.</strong>
|
|
Pediatrics 32: 180-185, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14044445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14044445</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14044445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Schmidt1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmidt, M. A., Ensing, G. J., Michels, V. V., Carter, G. A., Hagler, D. J., Feldt, R. H.
|
|
<strong>Autosomal dominant supravalvular aortic stenosis: large three-generation family.</strong>
|
|
Am. J. Med. Genet. 32: 384-389, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2658589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320320324" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Strong1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Strong, W. B., Perrin, E., Liebman, J., Silbert, D. R.
|
|
<strong>Systemic and pulmonary artery dysplasia associated with unexpected death in infancy.</strong>
|
|
J. Pediat. 77: 233-238, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5431207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5431207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5431207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(70)80329-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Tassabehji1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tassabehji, M., Metcalfe, K., Donnai, D., Hurst, J., Reardon, W., Burch, M., Read, A. P.
|
|
<strong>Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 6: 1029-1036, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9215671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9215671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9215671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/6.7.1029" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="von Dadelszen2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
von Dadelszen, P., Chitayat, D., Winsor, E. J. T., Cohen, H., MacDonald, C., Taylor, G., Rose, T., Hornberger, L. K.
|
|
<strong>De novo 46,XX,t(6;7)(q27;q11;23) (sic) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.</strong>
|
|
Am. J. Med. Genet. 90: 270-275, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<270::aid-ajmg2>3.0.co;2-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Williams1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Williams, J. C., Barratt-Boyes, B. G., Lowe, J. B.
|
|
<strong>Supravalvular aortic stenosis.</strong>
|
|
Circulation 24: 1311-1318, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14007182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14007182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14007182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.cir.24.6.1311" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Wooley1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wooley, C. F., Hosier, D. M., Booth, R. W., Molnar, W., Sirak, H. D., Ryan, J. M.
|
|
<strong>Supravalvular aortic stenosis: clinical experiences with four patients including familial occurrence.</strong>
|
|
Am. J. Med. 31: 717-725, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14008275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14008275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14008275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(61)90156-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 3/14/2012
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Michael B. Petersen - updated : 4/17/2001<br>Sonja A. Rasmussen - updated : 3/7/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 04/03/2017
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 03/15/2012<br>terry : 3/14/2012<br>terry : 8/30/2010<br>carol : 8/10/2010<br>mcapotos : 5/9/2001<br>mcapotos : 4/17/2001<br>alopez : 3/20/2000<br>carol : 3/15/2000<br>carol : 3/15/2000<br>carol : 3/15/2000<br>mcapotos : 3/8/2000<br>mcapotos : 3/7/2000<br>mcapotos : 3/3/2000<br>mimadm : 5/10/1995<br>carol : 2/15/1995<br>davew : 7/1/1994<br>carol : 11/16/1993<br>carol : 8/30/1993<br>carol : 8/17/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 185500
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SUPRAVALVULAR AORTIC STENOSIS; SVAS
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 268185002;
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q25.3;
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 3193;
|
|
|
|
|
|
<strong>DO:</strong> 1929;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
7q11.23
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Supravalvar aortic stenosis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
185500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ELN
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
130160
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because supravalvular aortic stenosis (SVAS) is caused by heterozygous mutation in the gene encoding elastin (ELN; 130160) on chromosome 7q11.</p><p>SVAS is a frequent feature of Williams-Beuren syndrome (WBS; 194050), a contiguous gene deletion syndrome that includes hemizygous deletion of the ELN gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Eisenberg et al. (1964) reported 22 cases of supravalvular aortic stenosis involving 3 generations of each of 2 families. Some had associated pulmonary valvular or peripheral arterial stenosis. None had unusual facies. </p><p>Gyllensward et al. (1957) reported pulmonary artery stenosis in mother and son. </p><p>Lewis et al. (1969) described a sibship in which 5 of 9 sibs had supravalvar aortic stenosis with peculiar facies but normal intelligence. Schmidt et al. (1989) reevaluated this family and provided examinations of the parents, additional sibs, and offspring of the original 5 patients. Echocardiographic examinations added to the completeness of the survey. The SVAS showed marked variability of expression and was not associated with mental retardation. It also was said not to be associated with the facial manifestations of Williams syndrome, but the photographs seem to belie that conclusion: the configuration of the mouth in patients III-16 and III-18 who had SVAS documented by echocardiogram is very suggestive of the Williams syndrome and is quite different from that in their brother, III-17, who had a normal echocardiogram. Schmidt et al. (1989) concluded that isolated SVAS and Williams syndrome represent 'clinically distinct entities.' They did not commit themselves as to whether there was any genetic relationship between the two. </p><p>Antia et al. (1967) commented on a lack of clear distinction between the familial supravalvular aortic stenosis with normal facies and mentality and the nonfamilial type with abnormal facies and mental retardation. </p><p>McDonald et al. (1969) described an arteriopathy, with multiple pulmonary and systemic arterial stenoses, in a mother and 3 daughters. Two had supravalvular aortic stenosis. The familial occurrence of pulmonary arterial stenoses is documented (McCue et al., 1965) and their occurrence after maternal rubella is well established (Rowe, 1963). It can be argued that supravalvular aortic stenosis is an inadequate or inappropriate designation. </p><p>Strong et al. (1970) observed sudden death following premedication for cardiac catheterization in an 11-month-old male. Postmortem showed severe fibromuscular dysplasia of both systemic and pulmonary arteries. A sister had signs of mild pulmonary artery and supravalvular aortic stenosis. The mother had signs of mild aortic stenosis. </p><p>Wooley et al. (1961) described sibs with supravalvular aortic stenosis. </p><p>McKusick (1978) saw a family in which a man, his son and daughter, and his paternal uncle had well-confirmed signs of supravalvular aortic stenosis and/or peripheral pulmonary stenoses. None had manifestations of Williams syndrome.</p><p>O'Connor et al. (1985) studied 6 patients with supravalvular aortic stenosis; 3 had Williams syndrome, 2 had familial SVAS (presumably without evidence of Williams syndrome), and 1 had sporadic SVAS. </p><p>The existence of a familial form of SVAS, which might be called the Eisenberg form, separate from the SVAS in the Williams-Beuren syndrome appeared to be established by a study of an extensive kindred with 36 affected persons in 5 generations (Chiarella et al., 1989). The unique study was made possible by the fact that the family had lived in relative isolation on a small island in the Sardinian archipelago for over 200 years and also by the availability of echocardiography, including portable equipment usable in the home, for noninvasive diagnosis. Penetrance was estimated to be 86%. In 5 of 8 patients who underwent cardiac catheterization, multiple pulmonary stenoses were observed. Surgical correction was performed in 4 cases. None of the affected family members had unusual facies or mental retardation. </p><p>A similar family with the Eisenberg form of SVAS was reported by Ensing et al. (1989). Three members of that family had supravalvular aortic stenosis requiring surgery. Of 22 members examined echocardiographically who had not had prior surgical repair, 13 had supravalvular aortic stenosis. The echocardiographic findings varied widely, from calcification of the ascending aorta in a 71-year-old man with minimally increased flow velocity, to mild narrowing with mildly increased flow velocity in 6 members, to significant narrowing with impressively increased flow velocity in 7. In addition, 4 patients had mild narrowing of pulmonary artery branches and 8 had peak pulmonary artery flow velocities above normal. The family was of Irish-Native American-English descent living in the United States. </p><p>Kumar et al. (1993) observed 5 affected persons in 1 family; 3 had isolated SVAS, 1 had isolated peripheral pulmonary stenosis (PPS), and 1 had SVAS and PPS. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a family with autosomal dominant SVAS, Curran et al. (1993) found that a translocation t(6;7)(p21.1;q11.23) that cosegregated with the disease also disrupted the elastin gene (130160). The breakpoint was localized to exon 28 of the gene. Combined with studies indicating linkage of SVAS to the elastin gene (Ewart et al., 1993), the data suggested that mutations in the elastin gene are the cause of SVAS. Ewart et al. (1993) found a combined lod score of 5.90 for linkage of SVAS with the ELN gene, which has been mapped to 7q11.2. In a large 3-generation family, Olson et al. (1993) found linkage to a highly informative (CA)n repeat marker at locus D7S440 which had been localized to 7q. The findings are entirely consistent with the evidence implicating the elastin gene in the causation of this abnormality. </p><p>Kumar et al. (1994) confirmed the linkage of supravalvular aortic stenosis to the elastin gene. In the family they studied, individuals in 4 sibships in 3 generations and, by inference, a patient in an earlier generation were affected. Three individuals had supravalvular aortic stenosis; one had peripheral pulmonary stenosis; and one had both. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
|
Bennett et al. (1988) excluded the calcitonin gene (114130) as the site of the mutation in SVAS by use of a gene-specific probe which failed to show concordant segregation. In a family with many affected members with SVAS previously reported by Schmidt et al. (1989), Pastores et al. (1992) also excluded the calcitonin gene as the site of the mutation. Linkage was ruled out. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Morris et al. (1993) reported on the family in which SVAS cosegregated with a familial 6;7 translocation that disrupted the elastin gene at exon 28 (Curran et al., 1993). They pointed out that main pulmonary artery hypoplasia, preductal coarctation of the aorta, and pulmonic stenosis are frequently noted in patients with deletions involving the 7q11 region. Some of the patients have facial features such as wide mouth, long and prominent philtrum, and full lips like those in Williams syndrome. </p><p>Von Dadelszen et al. (2000) reported a patient with a de novo translocation 46,XX,t(6;7)(q27;q11.23). Since the Williams syndrome critical region probe showed 3 signals on FISH analysis (1 on the normal chromosome 7, 1 on the derivative 7 at 7q11.23, and a smaller signal on the derivative 6 chromosome at the translocation breakpoint), it appeared that the translocation may have disrupted the elastin gene. The patient presented prenatally with hydrops fetalis and severe supravalvular aortic and pulmonary stenosis, and died shortly after delivery at 32 weeks' gestation. Given the degree of body edema and prematurity, the authors were unable to distinguish between isolated SVAS and Williams syndrome in this patient. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a family with SVAS, Ewart et al. (1994) found a heterozygous 100-kb deletion in the 3-prime end of the elastin gene with a breakpoint between elastin exons 27 and 28. The same region was disrupted in the familial reciprocal translocation reported by Morris et al. (1993). Ewart et al. (1993) found that deletion involving 7q11.23 and resulting in hemizygosity of the elastin gene is responsible for the Williams-Beuren syndrome (194050). Deletions limited to the elastin gene appear to result in SVAS, whereas deletions spanning at least 114 kb lead to Williams-Beuren syndrome. </p><p>Olson et al. (1995) used Southern blot analysis to screen for mutations in the ELN gene in 6 familial and 3 sporadic cases of SVAS. The familial cases included members of the large Middle Eastern pedigree in which linkage to the elastin gene region had been found by Olson et al. (1993). A 30-kb deletion extending from breakpoints in intron 1 and intron 27 (130160.0002) was identified in 2 members of the Middle Eastern family. The proband developed severe SVAS and peripheral pulmonary artery stenosis and underwent aortic operation in early childhood. He had no evidence of Williams syndrome or clinically apparent abnormalities of other elastin-containing tissue. The deletion was also demonstrated in his mother, an obligate carrier with subtle disease (a heart murmur and a nondiagnostic echocardiogram). Blood for DNA analysis was not available from a maternal uncle with SVAS and a sister with isolated peripheral pulmonary artery stenosis. </p><p>Li et al. (1997) identified a heterozygous nonsense mutation in the ELN gene (130160.0003) in a sporadic case of SVAS. </p><p>Metcalfe et al. (2000) described the mutation spectrum of the ELN gene in 35 unrelated patients with SVAS and normal karyotypes without major deletions of the ELN gene as determined by FISH. A marked phenotypic intrafamilial variability was illustrated by 2 large families with multiple affected members with disease severity ranging from asymptomatic carriers to mild or severe SVAS requiring surgery, or sudden infant death. No obvious genotype-phenotype correlation was detected; cases with missense or splicing mutations were as likely to have severe SVAS as cases with truncating mutations. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Tassabehji et al. (1997) found that isolated SVAS was associated with point mutations in the ELN gene that predicted premature chain termination. They stated that in their experience all patients with a classic Williams syndrome phenotype (194050) had been found to be hemizygous at the elastin locus; nevertheless, only 5% had severe clinical SVAS. In their 2 SVAS families with point mutations, each mutation manifested as severe SVAS in the proband, but as mild cardiac features or nonpenetrance in the mothers. Tassabehji et al. (1997) considered such variability typical of phenotypes produced by haploinsufficiency, where genetic background is expected to have a major modifying effect. An alternative hypothesis is that a dominant-negative elastin mutation results if truncated proteins have some but not all domains critical for intermolecular interactions and thus may disrupt posttranslational processing and development of elastic fibers. </p><p>Micale et al. (2010) analyzed the ELN gene in 31 familial and sporadic cases of SVAS and identified 7 novel mutations, including 5 frameshift mutations and 2 splice site mutations (see, e.g., 130160.0020). In vitro analysis of 3 of the frameshift mutations using minigene constructs and transfection assays confirmed that functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. In addition, molecular analysis of patient fibroblasts showed that the 2044+5G-C (130160.0020) mutant allele encodes an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Johnson et al. (1976); Jorgensen and Beuren (1965); Logan et al.
|
|
(1965); McCue et al. (1968); Morrison and McNalley (1967); Page et
|
|
al. (1969); Williams et al. (1961)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Antia, A. U., Wiltse, H. E., Rowe, R. D., Pitt, E. L., Levin, S., Ottesen, O. E., Cooke, R. E.
|
|
<strong>Pathogenesis of the supravalvular aortic stenosis syndrome.</strong>
|
|
J. Pediat. 71: 431-441, 1967.
|
|
|
|
|
|
[PubMed: 6039813]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(67)80308-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bennett, C. P., Burn, J., Moore, G. E., Chambers, J., Williamson, R., Wilkinson, J.
|
|
<strong>Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.</strong>
|
|
J. Med. Genet. 25: 311-312, 1988.
|
|
|
|
|
|
[PubMed: 3164411]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.25.5.311]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiarella, F., Dagna Bricarelli, F., Lupi, G., Bellotti, P., Domenicucci, S., Vecchio, C.
|
|
<strong>Familial supravalvular aortic stenosis: a genetic study.</strong>
|
|
J. Med. Genet. 26: 86-92, 1989.
|
|
|
|
|
|
[PubMed: 2918546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.26.2.86]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., Leppert, M. F., Keating, M. T.
|
|
<strong>The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.</strong>
|
|
Cell 73: 159-168, 1993.
|
|
|
|
|
|
[PubMed: 8096434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(93)90168-p]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eisenberg, R., Young, D., Jacobson, B., Boito, A.
|
|
<strong>Familial supravalvar aortic stenosis.</strong>
|
|
Am. J. Dis. Child. 108: 341-347, 1964.
|
|
|
|
|
|
[PubMed: 14186652]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archpedi.1964.02090010343002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ensing, G. J., Schmidt, M. A., Hagler, D. J., Michels, V. V., Carter, G. A., Feldt, R. H.
|
|
<strong>Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: a Doppler echocardiographic study.</strong>
|
|
J. Am. Coll. Cardiol. 13: 413-419, 1989.
|
|
|
|
|
|
[PubMed: 2913119]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0735-1097(89)90520-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ewart, A. K., Jin, W., Atkinson, D., Morris, C. A., Keating, M. T.
|
|
<strong>Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.</strong>
|
|
J. Clin. Invest. 93: 1071-1077, 1994.
|
|
|
|
|
|
[PubMed: 8132745]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI117057]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ewart, A. K., Morris, C. A., Ensing, G. J., Loker, J., Moore, C., Leppert, M., Keating, M.
|
|
<strong>A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 3226-3230, 1993.
|
|
|
|
|
|
[PubMed: 8475063]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.90.8.3226]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gyllensward, A., Lodin, H., Lundberg, A., Moller, T.
|
|
<strong>Congenital, multiple peripheral stenosis of the pulmonary artery.</strong>
|
|
Pediatrics 19: 399-410, 1957.
|
|
|
|
|
|
[PubMed: 13408018]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnson, L. W., Fishman, R. A., Schneider, B., Parker, F. B., Jr., Husson, G. S., Webb, W. R.
|
|
<strong>Familial supravalvular aortic stenosis: report of a large family and review of the literature.</strong>
|
|
Chest 70: 494-500, 1976.
|
|
|
|
|
|
[PubMed: 975952]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1378/chest.70.4.494]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jorgensen, G., Beuren, A. J.
|
|
<strong>Genetische Untersuchungen bei supravalvularen Aortenstenosen.</strong>
|
|
Humangenetik 1: 497-515, 1965.
|
|
|
|
|
|
[PubMed: 5868428]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00338340]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kumar, A., Olson, T. M., Thibodeau, S. N., Michels, V. V., Schaid, D. J., Wallace, M. R.
|
|
<strong>Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.</strong>
|
|
Am. J. Cardiol. 74: 1281-1283, 1994.
|
|
|
|
|
|
[PubMed: 7977109]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9149(94)90567-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kumar, A., Stalker, H. J., Williams, C. A.
|
|
<strong>Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia.</strong>
|
|
Am. J. Med. Genet. 45: 739-742, 1993.
|
|
|
|
|
|
[PubMed: 8456853]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320450614]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, A. J., Ongley, P. A., Kincaid, O. W., Ritter, D. G.
|
|
<strong>Supravalvular aortic stenosis: report of a family with peculiar somatic features and normal intelligence.</strong>
|
|
Dis. Chest 55: 372-379, 1969.
|
|
|
|
|
|
[PubMed: 5780776]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1378/chest.55.5.372]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, D. Y., Toland, A. E., Boak, B. B., Atkinson, D. L., Ensing, G. J., Morris, C. A., Keating, M. T.
|
|
<strong>Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 6: 1021-1028, 1997.
|
|
|
|
|
|
[PubMed: 9215670]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.7.1021]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Logan, W. F., Jones, E. W., Walker, E., Coulshed, N., Epstein, E. J.
|
|
<strong>Familial supravalvar aortic stenosis.</strong>
|
|
Brit. Heart J. 27: 547-559, 1965.
|
|
|
|
|
|
[PubMed: 14324113]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/hrt.27.4.547]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCue, C. M., Robertson, L. W., Lester, R. G., Mauck, H. P., Jr.
|
|
<strong>Pulmonary artery coarctations: a report of 20 cases with review of 319 cases from the literature.</strong>
|
|
J. Pediat. 67: 222-238, 1965.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCue, C. M., Spicuzza, T. J., Robertson, L. W., Mauck, H. P., Jr.
|
|
<strong>Familial supravalvular aortic stenosis.</strong>
|
|
J. Pediat. 73: 889-895, 1968.
|
|
|
|
|
|
[PubMed: 5748503]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(68)80242-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McDonald, A. H., Gerlis, L. M., Sommerville, J.
|
|
<strong>Familial arteriopathy with associated pulmonary and systemic arterial stenosis.</strong>
|
|
Brit. Heart J. 31: 375-385, 1969.
|
|
|
|
|
|
[PubMed: 5401816]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/hrt.31.3.375]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Metcalfe, K., Rucka, A. K., Smoot, L., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V., Rauch, A., Dean, J., Dennis, N., Ellis, I., Reardon, W., Cytrynbaum, C., Osborne, L., Yates, J. R., Read, A. P., Donnai, D., Tassabehji, M.
|
|
<strong>Elastin: mutational spectrum in supravalvular aortic stenosis.</strong>
|
|
Europ. J. Hum. Genet. 8: 955-963, 2000.
|
|
|
|
|
|
[PubMed: 11175284]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200564]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Micale, L., Turturo, M. G., Fusco, C., Augello, B., Jurado, L. A. P., Izzi, C., Digilio, M. C., Milani, D., Lapi, E., Zelante, L., Merla, G.
|
|
<strong>Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.</strong>
|
|
Europ. J. Hum. Genet. 18: 317-323, 2010.
|
|
|
|
|
|
[PubMed: 19844261]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2009.181]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morris, C. A., Loker, J., Ensing, G., Stock, A. D.
|
|
<strong>Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.</strong>
|
|
Am. J. Med. Genet. 46: 737-744, 1993.
|
|
|
|
|
|
[PubMed: 8362925]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320460634]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morrison, R. C., McNalley, M. C.
|
|
<strong>The spectrum of abnormalities in supravalvular aortic stenosis. (Abstract)</strong>
|
|
Am. J. Cardiol. 19: 143 only, 1967.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Connor, W. N., Davis, J. B., Jr., Geissler, R., Cottrill, C. M., Noonan, J. A., Todd, E. P.
|
|
<strong>Supravalvular aortic stenosis: clinical and pathologic observations in six patients.</strong>
|
|
Arch. Path. Lab. Med. 109: 179-185, 1985.
|
|
|
|
|
|
[PubMed: 3838444]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N.
|
|
<strong>Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.</strong>
|
|
Hum. Molec. Genet. 2: 869-873, 1993.
|
|
|
|
|
|
[PubMed: 8364568]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.7.869]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Olson, T. M., Michels, V. V., Urban, Z., Csiszar, K., Christiano, A. M., Driscoll, D. J., Feldt, R. H., Boyd, C. D., Thibodeau, S. N.
|
|
<strong>A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 4: 1677-1679, 1995.
|
|
|
|
|
|
[PubMed: 8541862]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.9.1677]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Page, H. L., Jr., Vogel, J. H. K., Pryor, R., Blount, S. G., Jr.
|
|
<strong>Supravalvular aortic stenosis: unusual observations in three patients.</strong>
|
|
Am. J. Cardiol. 23: 270-277, 1969.
|
|
|
|
|
|
[PubMed: 5773126]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9149(69)90077-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pastores, G. M., Michels, V. V., Schaid, D. J., Driscoll, D. J., Feldt, R. H., Thibodeau, S. N.
|
|
<strong>Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.</strong>
|
|
J. Med. Genet. 29: 56-57, 1992.
|
|
|
|
|
|
[PubMed: 1552547]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.29.1.56]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rowe, R. D.
|
|
<strong>Maternal rubella and pulmonary artery stenoses: report of eleven cases.</strong>
|
|
Pediatrics 32: 180-185, 1963.
|
|
|
|
|
|
[PubMed: 14044445]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmidt, M. A., Ensing, G. J., Michels, V. V., Carter, G. A., Hagler, D. J., Feldt, R. H.
|
|
<strong>Autosomal dominant supravalvular aortic stenosis: large three-generation family.</strong>
|
|
Am. J. Med. Genet. 32: 384-389, 1989.
|
|
|
|
|
|
[PubMed: 2658589]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320320324]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Strong, W. B., Perrin, E., Liebman, J., Silbert, D. R.
|
|
<strong>Systemic and pulmonary artery dysplasia associated with unexpected death in infancy.</strong>
|
|
J. Pediat. 77: 233-238, 1970.
|
|
|
|
|
|
[PubMed: 5431207]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(70)80329-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tassabehji, M., Metcalfe, K., Donnai, D., Hurst, J., Reardon, W., Burch, M., Read, A. P.
|
|
<strong>Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.</strong>
|
|
Hum. Molec. Genet. 6: 1029-1036, 1997.
|
|
|
|
|
|
[PubMed: 9215671]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.7.1029]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
von Dadelszen, P., Chitayat, D., Winsor, E. J. T., Cohen, H., MacDonald, C., Taylor, G., Rose, T., Hornberger, L. K.
|
|
<strong>De novo 46,XX,t(6;7)(q27;q11;23) (sic) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.</strong>
|
|
Am. J. Med. Genet. 90: 270-275, 2000.
|
|
|
|
|
|
[PubMed: 10710222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000214)90:4<270::aid-ajmg2>3.0.co;2-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Williams, J. C., Barratt-Boyes, B. G., Lowe, J. B.
|
|
<strong>Supravalvular aortic stenosis.</strong>
|
|
Circulation 24: 1311-1318, 1961.
|
|
|
|
|
|
[PubMed: 14007182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.24.6.1311]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wooley, C. F., Hosier, D. M., Booth, R. W., Molnar, W., Sirak, H. D., Ryan, J. M.
|
|
<strong>Supravalvular aortic stenosis: clinical experiences with four patients including familial occurrence.</strong>
|
|
Am. J. Med. 31: 717-725, 1961.
|
|
|
|
|
|
[PubMed: 14008275]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(61)90156-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 3/14/2012<br>Michael B. Petersen - updated : 4/17/2001<br>Sonja A. Rasmussen - updated : 3/7/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 04/03/2017<br>carol : 03/15/2012<br>terry : 3/14/2012<br>terry : 8/30/2010<br>carol : 8/10/2010<br>mcapotos : 5/9/2001<br>mcapotos : 4/17/2001<br>alopez : 3/20/2000<br>carol : 3/15/2000<br>carol : 3/15/2000<br>carol : 3/15/2000<br>mcapotos : 3/8/2000<br>mcapotos : 3/7/2000<br>mcapotos : 3/3/2000<br>mimadm : 5/10/1995<br>carol : 2/15/1995<br>davew : 7/1/1994<br>carol : 11/16/1993<br>carol : 8/30/1993<br>carol : 8/17/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 14, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|