5289 lines
456 KiB
Text
5289 lines
456 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 _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</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
|
|
|
|
- #307800 - HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHRD
|
|
|
|
|
|
- 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=307800"><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">#307800</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/307800"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS193100"> <strong>Phenotypic Series</strong> </a>
|
|
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</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="#clinicalManagement">Clinical Management</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#pathogenesis">Pathogenesis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</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="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#history">History</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=HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=11911&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://www.ncbi.nlm.nih.gov/books/NBK83985/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/2752" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=307800[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=89936" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/93081773-b1b6-4abc-9653-2cf25e3b1d62/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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:0050445" 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/307800" 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><a href="https://omia.org/OMIA001184/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:0050445" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:307800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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> 82236004<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> E83.31<br />
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 89936<br />
|
|
|
|
|
|
<strong>DO:</strong> 0050445<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>
|
|
307800
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHRD
|
|
|
|
</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">
|
|
HYPOPHOSPHATEMIA, X-LINKED; XLH<br />
|
|
HYP<br />
|
|
VITAMIN D-RESISTANT RICKETS, X-LINKED<br />
|
|
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR
|
|
</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/X/115?start=-3&limit=10&highlight=115">
|
|
Xp22.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypophosphatemic rickets, X-linked dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/307800"> 307800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
|
|
PHEX
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300550"> 300550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/307800" 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">
|
|
|
|
<a href="/phenotypicSeries/PS193100" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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/307800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/307800" 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> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss has been reported in some adults with severe disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843975</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypomineralization of enamel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1258915002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1258915002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109487003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109487003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1258914003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1258914003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5690820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5690820</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006285</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006285</a>]</span><br /> -
|
|
Defect in dentin maturation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843976&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843976</a>]</span><br /> -
|
|
Enlarged pulp chambers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843977</a>]</span><br /> -
|
|
Recurrent dental abscesses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843978</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal phosphate wasting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span><br /> -
|
|
Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000117</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Rickets in children <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843979</a>]</span><br /> -
|
|
Osteomalacia in adults <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M83</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M83.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M83.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0477680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0477680</a>]</span><br /> -
|
|
Osteoarthritis, more common in adults <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843980</a>]</span><br /> -
|
|
Joint pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4085641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085641</a>, <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
|
|
Bone pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12584003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12584003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002653</a>]</span><br /> -
|
|
Calcification of entheses (tendons, ligaments, joint capsules), more common in adults <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843981</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased anteroposterior skull length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843982</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spinal cord compression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71286001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71286001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G95.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G95.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037926</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002176</a>]</span><br /> -
|
|
Spinal stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76107001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76107001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M48.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M48.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M48.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M48.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/724.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">724.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037944</a>, <a href="https://bioportal.bioontology.org/search?q=C1861329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003416</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003416</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flaring of the iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bowing of the legs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002979</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002979</a>]</span><br /> -
|
|
Lower limb deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449715001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449715001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096086</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002814</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002814" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002814</a>]</span><br /> -
|
|
Frayed, irregular metaphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838662</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003025</a>]</span><br /> -
|
|
Curvatures of the femur, tibia, fibula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833330</a>]</span><br /> -
|
|
Trapezoidal distal femoral condyles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843983</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006432</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006432" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006432</a>]</span><br /> -
|
|
Pseudofractures in adults <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843984</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Shortening of the talar neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008117</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008117</a>]</span><br /> -
|
|
Flattening of the talar dome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843986</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008144</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008144</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypophosphatemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4996001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4996001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0595888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0595888</a>, <a href="https://bioportal.bioontology.org/search?q=C0085682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002148</a>]</span><br /> -
|
|
Increased serum alkaline phosphatase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166627004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166627004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1314665&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1314665</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003155</a>]</span><br /> -
|
|
Normal to mildly increased serum parathyroid hormone (PTH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843987</a>]</span><br /> -
|
|
Normal serum calcium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858094</a>]</span><br /> -
|
|
Inappropriately normal to low-normal serum 1,25-dihydroxyvitamin D3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843988</a>]</span><br /> -
|
|
Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (<a href="/entry/609506">609506</a>) to hypophosphatemia<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset by 1 year of age<br /> -
|
|
Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
In general, men have more severe disease than women<br /> -
|
|
See also autosomal dominant hypophosphatemic rickets (<a href="/entry/193100">193100</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the phosphate regulating endopeptidase homolog, X-linked, gene (PHEX, <a href="/entry/300550#0001">300550.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hypophosphatemic rickets
|
|
- <a href="/phenotypicSeries/PS193100">PS193100</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/394?start=-3&limit=10&highlight=394"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/241520"> Hypophosphatemic rickets, AR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/241520"> 241520 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600980"> DMP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600980"> 600980 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/859?start=-3&limit=10&highlight=859"> 6q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613312"> Hypophosphatemic rickets, autosomal recessive, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
<a href="/entry/613312"> 613312 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173335"> ENPP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173335"> 173335 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/32?start=-3&limit=10&highlight=32"> 12p13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193100"> Hypophosphatemic rickets, autosomal dominant </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">
|
|
<a href="/entry/193100"> 193100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605380"> FGF23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605380"> 605380 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/115?start=-3&limit=10&highlight=115"> Xp22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/307800"> Hypophosphatemic rickets, X-linked dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
|
|
<a href="/entry/307800"> 307800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300550"> PHEX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300550"> 300550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/293?start=-3&limit=10&highlight=293"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300554"> Hypophosphatemic rickets </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
<a href="/entry/300554"> 300554 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300008"> CLCN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300008"> 300008 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" 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 X-linked dominant hypophosphatemic rickets (XLHRD) is caused by mutation in the phosphate-regulating endopeptidase gene (PHEX; <a href="/entry/300550">300550</a>) on chromosome Xp22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of hypophosphatemic rickets, see <a href="/entry/193100">193100</a>.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>X-linked dominant hypophosphatemic rickets (XLHRD), although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by <a href="#29" class="mim-tip-reference" title="Gaucher, C., Walrant-Debray, O., Nguyen, T.-M., Esterle, L., Garabedian, M., Jehan, F. <strong>PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.</strong> Hum. Genet. 125: 401-411, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19219621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19219621</a>] [<a href="https://doi.org/10.1007/s00439-009-0631-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19219621">Gaucher et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19219621" 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="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="#68" class="mim-tip-reference" title="Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H. <strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong> Medicine 37: 97-142, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13565132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13565132</a>] [<a href="https://doi.org/10.1097/00005792-195805000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13565132">Winters et al. (1958)</a> observed hypophosphatemia in a large North Carolina family of English-Scottish extraction. The degree of depression of serum phosphate was the same in males and females, although the severity of bone disease was much less severe in females. There were no instances of male-to-male transmission of either bone disease or hypophosphatemia, and all daughters of hypophosphatemic males were themselves hypophosphatemic, suggesting X-linked dominant inheritance. Affected persons, both males and females, showed a reduction in renal phosphate reabsorption per glomerular filtration rate (TmP/GFR) to about 50% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13565132" 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>In a study of patients with hypophosphatemia, <a href="#63" class="mim-tip-reference" title="Stickler, G. B. <strong>Familial hypophosphatemic vitamin D resistant rickets: the neonatal period and infancy.</strong> Acta Paediat. Scand. 58: 213-219, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5783409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5783409</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1969.tb04709.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5783409">Stickler (1969)</a> concluded that hypophosphatemia was already present in the neonatal period, that alkaline phosphatase was elevated at 1 month of age, and that early treatment with high doses of vitamin D did not prevent growth failure. Patients with the X-linked disorder do not show muscle weakness, tetany, or hypocalcemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5783409" 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>Adults, especially males, with XLH may develop progressive ankylosis of the spine and major joints, simulating ankylosing spondylitis (<a href="/entry/106300">106300</a>). <a href="#36" class="mim-tip-reference" title="Highman, J. H., Sanderson, P. H., Sutcliffe, M. M. L. <strong>Vitamin-D-resistant osteomalacia as a cause of spinal cord compression.</strong> Quart. J. Med. 39: 529-537, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5532957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5532957</a>]" pmid="5532957">Highman et al. (1970)</a> reported compression of the spinal cord or 'spinal stenosis,' and noted that treatment with vitamin D may be responsible. <a href="#45" class="mim-tip-reference" title="Moser, C. R., Fessel, W. J. <strong>Rheumatic manifestations of hypophosphatemia.</strong> Arch. Intern. Med. 134: 674-678, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4370345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4370345</a>]" pmid="4370345">Moser and Fessel (1974)</a> commented on the misdiagnosis of ankylosing spondylitis in adults. <a href="#1" class="mim-tip-reference" title="Adams, J. E., Davies, M. <strong>Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia.</strong> Quart. J. Med. 61: 1117-1129, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3116593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3116593</a>]" pmid="3116593">Adams and Davies (1986)</a> described 4 XLH patients with spinal cord compression; 3 had successful treatment with decompressive laminectomy. At surgery, new bone formation in the ligamentum flavum and thickening of laminae were found to be responsible for the canal stenosis and cord compression. Computed tomography was useful in evaluating the site and extent of intraspinal new bone formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3116593+5532957+4370345" 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="#49" class="mim-tip-reference" title="Polisson, R. P., Martinez, S., Khoury, M., Harrell, R. M., Lyles, K. W., Friedman, N., Harrelson, J. M., Reisner, E., Drezner, M. K. <strong>Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.</strong> New Eng. J. Med. 313: 1-6, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4000222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4000222</a>] [<a href="https://doi.org/10.1056/NEJM198507043130101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4000222">Polisson et al. (1985)</a> studied the calcification and ossification of entheses (tendons, ligaments, and joint capsules) in 26 patients from 11 kindreds with XLH. They found entheses involvement in 69% of patients, with the most commonly affected sites being the hand and sacroiliac joints. Histologic examination of 1 case showed intratendinous lamellar bone without inflammatory cells. <a href="#49" class="mim-tip-reference" title="Polisson, R. P., Martinez, S., Khoury, M., Harrell, R. M., Lyles, K. W., Friedman, N., Harrelson, J. M., Reisner, E., Drezner, M. K. <strong>Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.</strong> New Eng. J. Med. 313: 1-6, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4000222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4000222</a>] [<a href="https://doi.org/10.1056/NEJM198507043130101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4000222">Polisson et al. (1985)</a> concluded that calcification of entheses is an integral part of XLH, which can be differentiated from degenerative disorders and seronegative spondyloarthropathies. <a href="#33" class="mim-tip-reference" title="Hardy, D. C., Murphy, W. A., Siegel, B. A., Reid, I. R., Whyte, M. P. <strong>X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features.</strong> Radiology 171: 403-414, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539609</a>] [<a href="https://doi.org/10.1148/radiology.171.2.2539609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2539609">Hardy et al. (1989)</a> analyzed the skeletal radiographic features in 38 'essentially untreated' adults with XLH. Osteoarthritis was common in the ankles, wrists, knees, feet, and sacroiliac joints. All of the older patients had enthesopathy, often accompanied by extra ossicles. Curvatures of the lower-extremity long bones were common in all age groups. Other findings included flaring of the iliac wings, trapezoidal distal femoral condyles, shortening of the talar neck, and flattening of the talar dome. The findings were more severe in men. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4000222+2539609" 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="#59" class="mim-tip-reference" title="Shields, E. D., Scriver, C. R., Reade, T., Fujiwara, T. M., Morgan, K., Ciampi, A., Schwartz, S. <strong>X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.</strong> Am. J. Hum. Genet. 46: 434-442, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2155529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2155529</a>]" pmid="2155529">Shields et al. (1990)</a> used the index they call PRATIO (ratio of pulp area to tooth area) to study patients with X-linked hypophosphatemia. They found high values in affected males and intermediate values in heterozygous females, suggesting primary expression of the causative gene in the teeth, as well as in the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2155529" 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>Patients with XLH have normal or low serum levels of 1,25-dihydroxyvitamin D3 (also known as calcitriol, the active form of vitamin D), despite having hypophosphatemia, which is a known stimulus of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (CYP27B1; <a href="/entry/609506">609506</a>). Administration of parathyroid hormone (PTH; <a href="/entry/168450">168450</a>) results in blunted stimulation of serum calcitriol levels in both humans and the murine model of XLH, the 'Hyp' mouse. However, <a href="#24" class="mim-tip-reference" title="Econs, M. J., Lobaugh, B., Drezner, M. K. <strong>Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets.</strong> J. Clin. Endocr. Metab. 75: 408-411, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639943</a>] [<a href="https://doi.org/10.1210/jcem.75.2.1639943" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1639943">Econs et al. (1992)</a> found that calcitriol concentrations increased in XLH patients in response to calcitonin (<a href="/entry/114130">114130</a>), as had been observed in the mouse. The findings indicated that patients with XLH have an incomplete defect in the regulation of 25-hydroxyvitamin D-1-alpha-hydroxylase activity: no response to PTH, but normal response to calcitonin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639943" 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>Deafness has been rarely reported in humans with X-linked hypophosphatemia (<a href="#19" class="mim-tip-reference" title="Davies, M., Kane, R., Valentine, J. <strong>Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.</strong> Ann. Intern. Med. 100: 230-232, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691666</a>] [<a href="https://doi.org/10.7326/0003-4819-100-2-230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6691666">Davies et al., 1984</a>; <a href="#47" class="mim-tip-reference" title="O'Malley, S., Ramsden, R. T., Latif, A., Kane, R., Davies, M. <strong>Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.</strong> Acta Otolaryng. 100: 13-18, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4040696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4040696</a>] [<a href="https://doi.org/10.3109/00016488509108581" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4040696">O'Malley et al., 1985</a>). However, <a href="#27" class="mim-tip-reference" title="Fishman, G., Miller-Hansen, D., Jacobsen, C., Singhal, V. K., Alon, U. S. <strong>Hearing impairment in familial X-linked hypophosphatemic rickets.</strong> Europ. J. Pediat. 163: 622-623, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15290264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15290264</a>] [<a href="https://doi.org/10.1007/s00431-004-1504-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15290264">Fishman et al. (2004)</a> concluded that hearing impairment is not a feature of XLH in childhood. They found that 15 of 15 children under the age of 18 years showed no deficits attributable to XLH; 1 had hearing loss due to other causes. Three of 10 parents with XLH did show sensorineural hearing loss, suggesting that hearing loss in adults is due to XLH, particularly in cases with severe bone involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6691666+15290264+4040696" 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="clinicalManagement" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#30" class="mim-tip-reference" title="Glorieux, F. H., Scriver, C. R., Reade, T. M., Goldman, H., Rosenborough, A. <strong>Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.</strong> New Eng. J. Med. 287: 481-487, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340235</a>] [<a href="https://doi.org/10.1056/NEJM197209072871003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4340235">Glorieux et al. (1972)</a> found growth restoration in patients with XLH when inorganic phosphate and vitamin D2 were administered, consistent with the theory that the defect was primarily due to loss of phosphate at the level of the renal tubule. They also showed a direct correlation between the level of serum inorganic phosphate and whole blood oxygen pressure at 50% oxygen saturation, and speculated that low Pi may inhibit synthesis of 2,3-diphosphoglycerate in red cells with resulting inhibition of release of oxygen to tissues. <a href="#30" class="mim-tip-reference" title="Glorieux, F. H., Scriver, C. R., Reade, T. M., Goldman, H., Rosenborough, A. <strong>Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.</strong> New Eng. J. Med. 287: 481-487, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340235</a>] [<a href="https://doi.org/10.1056/NEJM197209072871003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4340235">Glorieux et al. (1972)</a> suggested that this might be the mechanism of growth retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340235" 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>On the basis of a follow-up study, <a href="#44" class="mim-tip-reference" title="McNair, S. L., Stickler, G. B. <strong>Growth in familial hypophosphatemic vitamin-D-resistant rickets.</strong> New Eng. J. Med. 281: 511-516, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5800510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5800510</a>] [<a href="https://doi.org/10.1056/NEJM196909042811001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5800510">McNair and Stickler (1969)</a> questioned whether vitamin D therapy had any beneficial effect on growth in familial hypophosphatemic rickets. <a href="#62" class="mim-tip-reference" title="Stickler, G. B., Morgenstern, B. Z. <strong>Hypophosphataemic rickets: final height and clinical symptoms in adults.</strong> Lancet 334: 902-905, 1989. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2571821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2571821</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)91559-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2571821">Stickler and Morgenstern (1989)</a> analyzed heights and symptoms of 52 patients, aged at least 18 years, with hypophosphatemic rickets. They found no evidence that any form of treatment had any effect on adult height, symptoms, or alkaline phosphatase levels. There was a negative relation between adult height and the number of osteotomies undergone. <a href="#62" class="mim-tip-reference" title="Stickler, G. B., Morgenstern, B. Z. <strong>Hypophosphataemic rickets: final height and clinical symptoms in adults.</strong> Lancet 334: 902-905, 1989. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2571821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2571821</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)91559-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2571821">Stickler and Morgenstern (1989)</a> concluded that complications of treatment with vitamin D, such as renal failure, which appeared secondary to vitamin D intoxication in 3 patients in their twenties, outweighed any possible benefits. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5800510+2571821" 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>Both vitamin D and phosphate supplementation are necessary for the treatment of X-linked hypophosphatemia, whereas calcitriol alone and phosphate alone appear to suffice in the autosomal dominant (<a href="/entry/193100">193100</a>) and autosomal recessive (<a href="/entry/241520">241520</a>) disorders, respectively. <a href="#34" class="mim-tip-reference" title="Harrell, R. M., Lyles, K. W., Harrelson, J. M., Friedman, N. E., Drezner, M. K. <strong>Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia; induction and maintenance with phosphorus and calcitriol.</strong> J. Clin. Invest. 75: 1858-1868, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839245</a>] [<a href="https://doi.org/10.1172/JCI111900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839245">Harrell et al. (1985)</a> found that complete healing of the bone lesions in X-linked hypophosphatemic patients could be induced with supraphysiologic doses of calcitriol, 1,25(OH)2-vitamin D, in combination with oral phosphorus. Although calcitriol dose reduction was necessary once healing was achieved, bone was maintained normally for up to a year on lower doses of 1,25(OH)-vitamin D and continued phosphorus supplementation. However, therapy only partially corrected skeletal lesions and was often complicated by hyperparathyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839245" 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>Because of the disputed value of phosphate and vitamin D therapy and the recognized complication of nephrocalcinosis, <a href="#67" class="mim-tip-reference" title="Verge, C. F., Lam, A., Simpson, J. M., Cowell, C. T., Howard, N. J., Silink, M. <strong>Effects of therapy in X-linked hypophosphatemic rickets.</strong> New Eng. J. Med. 325: 1843-1848, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660098</a>] [<a href="https://doi.org/10.1056/NEJM199112263252604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660098">Verge et al. (1991)</a>, in Sydney, Australia, studied therapy in 9 boys and 15 girls and compared the results with those reported in 1971 in 16 untreated Australian patients. The 19 patients treated for at least 2 years before the onset of puberty had a mean height standard-deviation score of -1.08, as compared with -2.05 in the untreated historical controls. Nineteen of the 24 patients had nephrocalcinosis detected on renal ultrasonography. The grade of nephrocalcinosis was significantly correlated with the mean phosphate dose, but not with the dose of vitamin D or the duration of therapy. However, all patients had normal serum creatinine concentrations. <a href="#32" class="mim-tip-reference" title="Glorieux, F. H. <strong>Rickets, the continuing challenge. (Editorial)</strong> New Eng. J. Med. 325: 1875-1877, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660099</a>] [<a href="https://doi.org/10.1056/NEJM199112263252609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660099">Glorieux (1991)</a> suggested that the reason <a href="#67" class="mim-tip-reference" title="Verge, C. F., Lam, A., Simpson, J. M., Cowell, C. T., Howard, N. J., Silink, M. <strong>Effects of therapy in X-linked hypophosphatemic rickets.</strong> New Eng. J. Med. 325: 1843-1848, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660098</a>] [<a href="https://doi.org/10.1056/NEJM199112263252604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660098">Verge et al. (1991)</a> failed to find a correlation with the dose of vitamin D was due to their use of a narrow range of dosages in their patients. <a href="#32" class="mim-tip-reference" title="Glorieux, F. H. <strong>Rickets, the continuing challenge. (Editorial)</strong> New Eng. J. Med. 325: 1875-1877, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660099</a>] [<a href="https://doi.org/10.1056/NEJM199112263252609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660099">Glorieux (1991)</a> commented that combined treatment had brought about a dramatic decrease in the need for corrective osteotomies in this disorder and that the question of whether treatment should be continued after growth has ceased remained an open question. He also referred to the informative patient described by <a href="#35" class="mim-tip-reference" title="Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D. <strong>Growth disturbance in hereditary hypophosphatemia.</strong> Am. J. Dis. Child. 112: 290-297, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5925614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5925614</a>] [<a href="https://doi.org/10.1001/archpedi.1966.02090130064005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5925614">Harrison et al. (1966)</a>: a girl with dwarfism and X-linked hypophosphatemic rickets had severe vitamin D intoxication at the age of 3 years, which permanently reduced her glomerular filtration rate by 50%. As a consequence of the renal dysfunction, her serum phosphate concentration thereafter became normal and her growth rate accelerated so that her height reached the 50th percentile by the time she became an adult. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1660098+5925614+1660099" 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="#48" class="mim-tip-reference" title="Petersen, D. J., Boniface, A. M., Schranck, F. W., Rupich, R. C., Whyte, M. P. <strong>X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy.</strong> J. Bone Miner. Res. 7: 583-597, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1414477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1414477</a>] [<a href="https://doi.org/10.1002/jbmr.5650070602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1414477">Petersen et al. (1992)</a> reviewed the growth patterns of 20 children with XLH. Their findings suggested that calcitriol has a direct effect on the renal tubule to improve reclamation of inorganic phosphate in this disorder. Heterozygous girls appeared to respond to therapy better than did hemizygous boys, an observation that provided evidence for a gene dosage effect in the expression of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1414477" 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="#26" class="mim-tip-reference" title="Firth, R. G., Grant, C. S., Riggs, B. L. <strong>Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia: report of two cases.</strong> Am. J. Med. 78: 669-673, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2984933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2984933</a>] [<a href="https://doi.org/10.1016/0002-9343(85)90411-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2984933">Firth et al. (1985)</a> reported 2 patients with hypophosphatemic rickets in whom long-term (over 10 years) therapy with phosphate and vitamin D resulted in hypercalcemic hyperparathyroidism with surgically proven adenomatous hyperplasia, consistent with tertiary hyperparathyroidism. <a href="#53" class="mim-tip-reference" title="Rivkees, S. A., el-Hajj-Fuleihan, G., Brown, E. M., Crawford, J. D. <strong>Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.</strong> J. Clin. Endocr. Metab. 75: 1514-1518, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1464657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1464657</a>] [<a href="https://doi.org/10.1210/jcem.75.6.1464657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1464657">Rivkees et al. (1992)</a> reported the development of tertiary hyperparathyroidism in 3 girls with hypophosphatemic rickets treated with high doses of phosphate and vitamin D. Even in the presence of very high parathyroid hormone, oral phosphate lowered serum calcium and stimulated further PTH secretion. Surgical resection in all 3 cases showed profound multiglandular parathyroid hyperplasia. <a href="#11" class="mim-tip-reference" title="Carpenter, T. O., Mitnick, M. A., Ellison, A., Smith, C., Insogna, K. L. <strong>Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.</strong> J. Clin. Endocr. Metab. 78: 1378-1383, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8200940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8200940</a>] [<a href="https://doi.org/10.1210/jcem.78.6.8200940" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8200940">Carpenter et al. (1994)</a> demonstrated exaggerated nocturnal rises in PTH in patients with XLH. They suggested that hyperparathyroidism in untreated XLH is a secondary event that compensates for impaired skeletal calcium mobilization. Hyperparathyroidism may contribute to the pathogenesis of nephrocalcinosis and precede the development of tertiary hyperparathyroidism. Although 2 of their patients with previous elevations of PTH showed normalization after medication adjustments, continued therapy appeared to aggravate the hyperparathyroidism. Tertiary hyperparathyroidism is thus a complication of treatment that exacerbates the primary disease process of renal tubular phosphate wasting, often prompting an increase in supplementary phosphate, which further stimulates the parathyroid gland. <a href="#56" class="mim-tip-reference" title="Savio, R. M., Gosnell, J. E., Posen, S., Reeve, T. S., Delbridge, L. W. <strong>Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.</strong> Arch. Surg. 139: 218-222, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14769584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14769584</a>] [<a href="https://doi.org/10.1001/archsurg.139.2.218" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14769584">Savio et al. (2004)</a> reported 6 unrelated patients with XLH who developed tertiary hyperparathyroidism after long-term therapy with phosphate and vitamin D. After parathyroidectomy, the patients developed severe hypocalcemia necessitating intravenous calcium infusion. Long-term, all patients achieved normocalcemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14769584+8200940+1464657+2984933" 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>In a placebo-controlled trial of 24,25(OH)2D3 supplementation in 15 HYP patients, <a href="#10" class="mim-tip-reference" title="Carpenter, T. O., Keller, M., Schwartz, D., Mitnick, M., Smith, C., Ellison, A., Carey, D., Comite, F., Horst, R., Travers, R., Glorieux, F. H., Gundberg, C. M., Poole, A. R., Insogna, K. L. <strong>24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.</strong> J. Clin. Endocr. Metab. 81: 2381-2388, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8964881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8964881</a>] [<a href="https://doi.org/10.1210/jcem.81.6.8964881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8964881">Carpenter et al. (1996)</a> found that supplementation with 24,25(OH)2D3 normalized PTH values in 9 subjects (peak PTH was 46.5 +/- 6.6 pmol/L at entry, 42.3 +/- 5.9 pmol/L after placebo, and 23.3 +/- 5.4 pmol/L after 24,25(OH)2D3). Nephrogenous cAMP decreased at night, coincident with the decrease in PTH, and serum phosphorus was slightly greater with 24,25(OH)2D3 treatment. Radiographic features of rickets improved during 24,25(OH)2D3 supplementation in children, and osteoid surface decreased in bone biopsies of adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8964881" 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>Despite oral phosphate and 1,25-dihydroxyvitamin D3 treatment, many patients with X-linked hypophosphatemic rickets have suboptimal growth and bone healing. In a study of 19 well-controlled HYP patients, <a href="#42" class="mim-tip-reference" title="Makitie, O., Doria, A., Kooh, S. W., Cole, W. G., Daneman, A., Sochett, E. <strong>Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.</strong> J. Clin. Endocr. Metab. 88: 3591-3597, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915641</a>] [<a href="https://doi.org/10.1210/jc.2003-030036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915641">Makitie et al. (2003)</a> found that the 8 patients who had treatment before age 1.0 years had higher median height z-scores than the 11 patients with treatment onset after age 1.0 years. Scores were higher in the early treatment group at treatment onset (-0.4 SD vs -1.7 SD), at the end of the first treatment year (-0.7 SD vs -1.8 SD), throughout childhood, and until predicted adult height. The degree of hypophosphatemia was similar in both groups, but serum alkaline phosphatase remained higher in the second group throughout childhood. Radiographic signs of rickets were more marked in the second group, but even patients with early treatment developed significant skeletal changes of rickets. The authors concluded that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915641" 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="#46" class="mim-tip-reference" title="Nehgme, R., Fahey, J. T., Smith, C., Carpenter, T. O. <strong>Cardiovascular abnormalities in patients with X-linked hypophosphatemia.</strong> J. Clin. Endocr. Metab. 82: 2450-2454, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9253316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9253316</a>] [<a href="https://doi.org/10.1210/jcem.82.8.4181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9253316">Nehgme et al. (1997)</a> evaluated cardiovascular status in 13 XLH patients. While their serum calcium and creatinine clearances were normal, they all had mild to moderate nephrocalcinosis. Left ventricular hypertrophy was diagnosed by electrocardiogram in 3 and by ultrasonography in 7. Although baseline blood pressures (BP) were normal, the patients showed an abnormal increase in diastolic BP at all levels of workload; their peak/(mean +/- SD) exercise diastolic BP was 91 +/- 12 versus 72 +/- 6 mm Hg in controls (p less than 0.0001). The authors suggested that patients with XLH should be monitored closely for the development of hypertension and left ventricular hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9253316" 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="#58" class="mim-tip-reference" title="Seikaly, M. G., Brown, R., Baum, M. <strong>The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.</strong> Pediatrics 100: 879-884, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9346990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9346990</a>] [<a href="https://doi.org/10.1542/peds.100.5.879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9346990">Seikaly et al. (1997)</a> studied the effects of recombinant growth hormone (GH; <a href="/entry/139250">139250</a>) therapy on height, mineral metabolism, parathyroid function, serum 1,25-(OH)2 vitamin D, osteocalcin, growth hormone, urinary calcium, phosphate, nephrocalcinosis, renal function, and bone density in 5 children with XLH. The growth velocity standard deviation score was -1.90 +/- 0.40 during 12 months of placebo administration and 4.04 +/- 1.50 during 12 months of recombinant GH therapy. An increase in serum phosphate from 0.88 +/- 0.07 to 1.17 +/- 0.14 mmol/L, and in the tubular maximum for phosphate reabsorption from 2.12 +/- 0.15 to 3.41 +/- 0.25 mg/dL, was observed after 3 months of recombinant GH therapy. However, both serum phosphate and tubular maximum for phosphate reabsorption were unchanged from baseline after 6, 9, and 12 months of recombinant GH therapy. <a href="#58" class="mim-tip-reference" title="Seikaly, M. G., Brown, R., Baum, M. <strong>The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.</strong> Pediatrics 100: 879-884, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9346990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9346990</a>] [<a href="https://doi.org/10.1542/peds.100.5.879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9346990">Seikaly et al. (1997)</a> concluded that patients with XLH have an improvement in linear growth and a transient increase in serum phosphate attributable to a transient decrease in urinary phosphate excretion when treated with recombinant GH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9346990" 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="#40" class="mim-tip-reference" title="Liu, E. S., Carpenter, T. O., Gundberg, C. M., Simpson, C. A., Insogna, K. L. <strong>Calcitonin administration in X-linked hypophosphatemia. (Letter)</strong> New Eng. J. Med. 364: 1678-1680, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21524226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21524226</a>] [<a href="https://doi.org/10.1056/NEJMc1010928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21524226">Liu et al. (2011)</a> measured the serum levels of FGF23 (<a href="/entry/605380">605380</a>) and indices of mineral metabolism over 24 hours in 7 untreated patients with X-linked hypophosphatemia and in 6 controls after a single subcutaneous injection of 200 IU of salmon calcitonin. The patients had a significant drop in serum FGF23 level from baseline 4 hours after injection, and levels remained below baseline for 16 hours. The controls showed no significant change in FGF23 levels. <a href="#40" class="mim-tip-reference" title="Liu, E. S., Carpenter, T. O., Gundberg, C. M., Simpson, C. A., Insogna, K. L. <strong>Calcitonin administration in X-linked hypophosphatemia. (Letter)</strong> New Eng. J. Med. 364: 1678-1680, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21524226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21524226</a>] [<a href="https://doi.org/10.1056/NEJMc1010928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21524226">Liu et al. (2011)</a> suggested that their study raised the possibility that calcitonin is a therapeutic option for patients with X-linked hypophosphatemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21524226" 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="Carpenter, T. O., Whyte, M. P., Imel, E. A., Boot, A. M., Hogler, W., Linglart, A., Padidela, R., van't Hoff, W., Mao, M., Chen, C.-Y., Skrinar, A., Kakkis, E., San Martin, J., Portale, A. A. <strong>Burosumab therapy in children with X-linked hypophosphatemia.</strong> New Eng. J. Med. 378: 1987-1998, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29791829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29791829</a>] [<a href="https://doi.org/10.1056/NEJMoa1714641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29791829">Carpenter et al. (2018)</a> performed an open-label, phase 2 clinical trial randomly assigning 52 children between 5 and 12 years of age with X-linked hypophosphatemia, in a 1:1 ratio, to receive subcutaneous burosumab, a monoclonal antibody that targets FGF23, either every 2 weeks or every 4 weeks. The primary endpoint was the change from baseline to weeks 40 and 64 in the Thacher rickets severity total score. In addition, the Radiographic Global Impression of Change was used to evaluate rachitic changes from baseline to week 40 and to week 64. Treatment with burosumab improved the severity of rickets, linear growth, renal tubular phosphate reabsorption, and serum phosphorus levels. Physical ability improved and pain decreased. Nearly all the adverse events were mild or moderate in severity. <a href="#12" class="mim-tip-reference" title="Carpenter, T. O., Whyte, M. P., Imel, E. A., Boot, A. M., Hogler, W., Linglart, A., Padidela, R., van't Hoff, W., Mao, M., Chen, C.-Y., Skrinar, A., Kakkis, E., San Martin, J., Portale, A. A. <strong>Burosumab therapy in children with X-linked hypophosphatemia.</strong> New Eng. J. Med. 378: 1987-1998, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29791829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29791829</a>] [<a href="https://doi.org/10.1056/NEJMoa1714641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29791829">Carpenter et al. (2018)</a> concluded that burosumab at a dose of approximately 1.0 mg/kg administered every 2 weeks is an appropriate regimen for improving renal tubular phosphate reabsorption and clinical outcomes in children with X-linked hypophosphatemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29791829" 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>By an oral phosphate tolerance test, <a href="#17" class="mim-tip-reference" title="Condon, J. R., Nassim, J. R., Rutter, A. <strong>Defective intestinal phosphate absorption in familial and non-familial hypophosphatemia.</strong> Brit. Med. J. 3: 138-141, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5431084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5431084</a>] [<a href="https://doi.org/10.1136/bmj.3.5715.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5431084">Condon et al. (1970)</a> demonstrated defective intestinal absorption of phosphate in familial hypophosphatemia. <a href="#60" class="mim-tip-reference" title="Short, E. M., Binder, J. H., Rosenberg, L. E. <strong>Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa.</strong> Science 179: 700-702, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4685042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4685042</a>] [<a href="https://doi.org/10.1126/science.179.4074.700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4685042">Short et al. (1973)</a> demonstrated a defect in transport of inorganic phosphate by intestinal mucosa in familial hypophosphatemia. <a href="#21" class="mim-tip-reference" title="Earp, H. S., Ney, R. L., Gitelman, H. J., Richman, R., DeLuca, H. F. <strong>Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets.</strong> New Eng. J. Med. 283: 627-630, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4317911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4317911</a>] [<a href="https://doi.org/10.1056/NEJM197009172831204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4317911">Earp et al. (1970)</a> and <a href="#15" class="mim-tip-reference" title="Cohanim, M., DeLuca, H. F., Yendt, E. R. <strong>Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.</strong> Johns Hopkins Med. J. 131: 118-132, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340527</a>]" pmid="4340527">Cohanim et al. (1972)</a> found that treatment with 25-hydroxycholecalciferol was ineffective in patients with familial hypophosphatemic rickets, suggesting that the basic defect was not in the conversion of vitamin D to the active form. <a href="#31" class="mim-tip-reference" title="Glorieux, F. H., Scriver, C. R. <strong>Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.</strong> Science 175: 997-1000, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4333173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4333173</a>] [<a href="https://doi.org/10.1126/science.175.4025.997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4333173">Glorieux and Scriver (1972)</a> postulated a defect in the parathyroid hormone-sensitive component of phosphate transport in kidney cells. Since calcium promotes phosphate reabsorption, the authors suggested that any beneficial effect of vitamin D therapy was secondary to the effects on calcium metabolism. <a href="#61" class="mim-tip-reference" title="Short, E. M., Sebastian, A., Spencer, M., Morris, R. C., Jr. <strong>Hyperresponsiveness to the phosphaturic effect of parathyroid hormone in X-linked hypophosphatemic vitamin D-resistant rickets (FHR). (Abstract)</strong> J. Clin. Invest. 53: 75A, 1974."None>Short et al. (1974)</a> proposed that the renal tubule in XLH is hyperresponsive to the phosphaturic effect of parathyroid hormone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5431084+4340527+4333173+4317911+4685042" 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="#50" class="mim-tip-reference" title="Quarles, L. D., Drezner, M. K. <strong>Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. (Editorial)</strong> J. Clin. Endocr. Metab. 86: 494-496, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157997</a>] [<a href="https://doi.org/10.1210/jcem.86.2.7302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157997">Quarles and Drezner (2001)</a> reviewed the pathophysiology of X-linked hypophosphatemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157997" 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>From a study of the comparative mapping of the human and mouse X chromosomes and the location of mouse Hpdr (also symbolized Hyp), <a href="#8" class="mim-tip-reference" title="Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G. <strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong> Cytogenet. Cell Genet. 40: 594-595, 1985."None>Buckle et al. (1985)</a> predicted that the human HPDR locus may be either between GLA (<a href="/entry/300644">300644</a>) and HPRT (<a href="/entry/308000">308000</a>) or in the distal part of Xp.</p><p>Studying 11 XLH families with RFLP markers, <a href="#52" class="mim-tip-reference" title="Read, A. P., Thakker, R. V., Davies, K. E., Mountford, R. C., Brenton, D. P., Davies, M., Glorieux, F., Harris, R., Hendy, G. N., King, A., McGlade, S., Peacock, C. J., Smith, R., O'Riordan, J. L. H. <strong>Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.</strong> Hum. Genet. 73: 267-270, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015770</a>] [<a href="https://doi.org/10.1007/BF00401242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3015770">Read et al. (1986)</a> mapped the XLH locus distal to DXS41, which had been located at Xp22.31-p21.3 by in situ hybridization (peak lod score of 4.82 at 10% recombination). <a href="#41" class="mim-tip-reference" title="Machler, M., Frey, D., Gal, A., Orth, U., Wienker, T. F., Fanconi, A., Schmid, W. <strong>X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.</strong> Hum. Genet. 73: 271-275, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015771</a>] [<a href="https://doi.org/10.1007/BF00401243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3015771">Machler et al. (1986)</a> found closer linkage with DXS41 (peak lod of 5.084 at theta = 0.00); there was no recombination in 17 meiotic events. Both groups concluded that the location on distal Xp is consistent with the scheme that relates the mouse and human X chromosomes by 2 inverted insertions (<a href="#8" class="mim-tip-reference" title="Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G. <strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong> Cytogenet. Cell Genet. 40: 594-595, 1985."None>Buckle et al., 1985</a>). <a href="#66" class="mim-tip-reference" title="Thakker, R. V., Read, A. P., Davies, K. E., Whyte, M. P., Weksberg, R., Glorieux, F., Davies, M., Mountford, R. C., Harris, R., King, A., Kim, G. S., Fraser, D., Kooh, S. W., O'Riordan, J. L. H. <strong>Bridging markers defining the map position of X linked hypophosphataemic rickets.</strong> J. Med. Genet. 24: 756-760, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828625</a>] [<a href="https://doi.org/10.1136/jmg.24.12.756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2828625">Thakker et al. (1987)</a> established that the HPDR1 locus lies distal to DXS41 and proximal to DXS43, located 11 cM and 14 cM, respectively, from the 2 markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2828625+3015770+3015771" 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="#25" class="mim-tip-reference" title="Econs, M. J., Pericak-Vance, M. A., Betz, H., Bartlett, R. J., Speer, M. C., Drezner, M. K. <strong>The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.</strong> Genomics 7: 439-441, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163973</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90180-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2163973">Econs et al. (1990)</a> demonstrated linkage of the XLH gene to a polymorphic probe derived from the glycine receptor alpha-2 gene (GLRA2; <a href="/entry/305990">305990</a>). <a href="#22" class="mim-tip-reference" title="Econs, M. J., Barker, D. F., Speer, M. C., Pericak-Vance, M. A., Fain, P. R., Drezner, M. K. <strong>A linkage map of the human X-linked hypophosphatemic rickets gene locus. (Abstract)</strong> Clin. Res. 39: 330A only, 1991."None>Econs et al. (1991)</a> identified closely situated flanking markers in region Xp22.2-p22.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2163973" 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>In 14 of 15 families with X-linked hypophosphatemia inherited through 2 or more generations, <a href="#54" class="mim-tip-reference" title="Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H. <strong>Three DNA markers for hypophosphataemic rickets.</strong> Hum. Genet. 89: 539-542, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353055</a>] [<a href="https://doi.org/10.1007/BF00219180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353055">Rowe et al. (1992)</a> found close linkage to 3 DNA markers. The 1 exception was a family with a large number of recombinants, 4 of which were double recombinants. <a href="#54" class="mim-tip-reference" title="Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H. <strong>Three DNA markers for hypophosphataemic rickets.</strong> Hum. Genet. 89: 539-542, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353055</a>] [<a href="https://doi.org/10.1007/BF00219180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1353055">Rowe et al. (1992)</a> suggested that the disease in this family (family A) mapped elsewhere on the X chromosome or on an autosome. This family had been described by <a href="#52" class="mim-tip-reference" title="Read, A. P., Thakker, R. V., Davies, K. E., Mountford, R. C., Brenton, D. P., Davies, M., Glorieux, F., Harris, R., Hendy, G. N., King, A., McGlade, S., Peacock, C. J., Smith, R., O'Riordan, J. L. H. <strong>Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.</strong> Hum. Genet. 73: 267-270, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015770</a>] [<a href="https://doi.org/10.1007/BF00401242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3015770">Read et al. (1986)</a> and by Thakker et al. (<a href="#66" class="mim-tip-reference" title="Thakker, R. V., Read, A. P., Davies, K. E., Whyte, M. P., Weksberg, R., Glorieux, F., Davies, M., Mountford, R. C., Harris, R., King, A., Kim, G. S., Fraser, D., Kooh, S. W., O'Riordan, J. L. H. <strong>Bridging markers defining the map position of X linked hypophosphataemic rickets.</strong> J. Med. Genet. 24: 756-760, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828625</a>] [<a href="https://doi.org/10.1136/jmg.24.12.756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2828625">1987</a>, <a href="#65" class="mim-tip-reference" title="Thakker, R. V., Davies, K. E., Read, A. P., Tippett, P., Wooding, C., Flint, T., Wood, S., Kruse, T. A., Whyte, M. P., O'Riordan, J. L. H. <strong>Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families.</strong> Genomics 8: 189-193, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979046</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90271-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979046">1990</a>), and was later found to have autosomal dominant disease (<a href="/entry/193100">193100</a>) caused by mutation in the FGF23 gene (<a href="#2" class="mim-tip-reference" title="ADHR Consortium. <strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong> Nature Genet. 26: 345-348, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062477</a>] [<a href="https://doi.org/10.1038/81664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062477">ADHR Consortium, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1353055+1979046+3015770+2828625+11062477" 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 3 unrelated patients with X-linked hypophosphatemia, the <a href="#38" class="mim-tip-reference" title="HYP Consortium. <strong>A gene (HYP) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets.</strong> Nature Genet. 11: 130-136, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550339</a>] [<a href="https://doi.org/10.1038/ng1095-130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550339">HYP Consortium (1995)</a> identified 3 different mutations in the PHEX gene (<a href="/entry/300550#0001">300550.0001</a>-<a href="/entry/300550#0003">300550.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550339" 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="#37" class="mim-tip-reference" title="Holm, I. A., Huang, X., Kunkel, L. M. <strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong> Am. J. Hum. Genet. 60: 790-797, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106524</a>]" pmid="9106524">Holm et al. (1997)</a> identified mutations in the PHEX gene in 9 of 22 unrelated patients: 3 nonsense mutations, a 1-bp deletion leading to a frameshift, a donor-splice site mutation, and missense mutations in 4 patients (see, e.g., <a href="/entry/300550#0004">300550.0004</a>-<a href="/entry/300550#0006">300550.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106524" 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>In affected members of a kindred originally reported by <a href="#28" class="mim-tip-reference" title="Frymoyer, J. W., Hodgkin, W. <strong>Adult-onset vitamin D-resistant hypophosphatemic osteomalacia: a possible variant of vitamin D-resistant rickets.</strong> J. Bone Joint Surg. Am. 59: 101-106, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188828</a>]" pmid="188828">Frymoyer and Hodgkin (1977)</a> as having a distinct disorder they designated as 'adult-onset vitamin D-resistant hypophosphatemic osteomalacia' (AVDRR), <a href="#23" class="mim-tip-reference" title="Econs, M. J., Friedman, N. E., Rowe, P. S. N., Speer, M. C., Francis, F., Strom, T. M., Oudet, C., Smith, J. A., Ninomiya, J. T., Lee, B. E., Bergen, H. <strong>A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.</strong> J. Clin. Endocr. Metab. 83: 3459-3462, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768646</a>] [<a href="https://doi.org/10.1210/jcem.83.10.5167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9768646">Econs et al. (1998)</a> identified a missense mutation in the PHEX gene (L555P; <a href="/entry/300550#0007">300550.0007</a>). <a href="#23" class="mim-tip-reference" title="Econs, M. J., Friedman, N. E., Rowe, P. S. N., Speer, M. C., Francis, F., Strom, T. M., Oudet, C., Smith, J. A., Ninomiya, J. T., Lee, B. E., Bergen, H. <strong>A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.</strong> J. Clin. Endocr. Metab. 83: 3459-3462, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768646</a>] [<a href="https://doi.org/10.1210/jcem.83.10.5167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9768646">Econs et al. (1998)</a> concluded that there is only one form of X-linked dominant phosphate wasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9768646+188828" 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="#55" class="mim-tip-reference" title="Sabbagh, Y., Jones, A. O., Tenenhouse, H. S. <strong>PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.</strong> Hum. Mutat. 16: 1-6, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874297</a>] [<a href="https://doi.org/10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10874297">Sabbagh et al. (2000)</a> stated that 131 HYP-causing mutations in the PHEX gene had been reported. They announced the creation of an online PHEX mutation database for the collection and distribution of information on PHEX mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874297" 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="Cho, H. Y., Lee, B. H., Kang, J. H., Ha, I. S., Cheong, H. I., Choi, Y. <strong>A clinical and molecular genetic study of hypophosphatemic rickets in children.</strong> Pediat. Res. 58: 329-333, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16055933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16055933</a>] [<a href="https://doi.org/10.1203/01.PDR.0000169983.40758.7B" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16055933">Cho et al. (2005)</a> identified mutations in the PHEX gene in 8 of 17 unrelated Korean patients with hypophosphatemic rickets; the 9 patients without mutations were all female. No genotype-phenotype correlations were identified among the children with PHEX mutations. Treatment with vitamin D and phosphate was frequently complicated by hypercalciuria, hypercalcemia, nephrocalcinosis, or hyperparathyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16055933" 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="#43" class="mim-tip-reference" title="Makras, P., Hamdy, N. A. T., Kant, S. G., Papapoulos, S. E. <strong>Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.</strong> J. Clin. Endocr. Metab. 93: 1386-1389, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252791</a>] [<a href="https://doi.org/10.1210/jc.2007-1296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252791">Makras et al. (2008)</a> described 3 members of a family in which a splice site mutation in the PHEX gene resulted in hypophosphatemic rickets with muscle dysfunction and normal growth (<a href="/entry/300550#0011">300550.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252791" 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>In a mother and her son and 2 daughters with X-linked hypophosphatemic rickets, <a href="#5" class="mim-tip-reference" title="Alhamoudi, K. M., Alghamdi, B., Alswailem, M., Nasir, A., Aljomaiah, A., Al-Hindi, H., Alzahrani, A. S. <strong>A unique mechanism of a novel synonymous PHEX variant causing X-linked hypophosphatemia.</strong> J. Clin. Endocr. Metab. 107: 2883-2891, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896147</a>] [<a href="https://doi.org/10.1210/clinem/dgac435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896147">Alhamoudi et al. (2022)</a> identified a c.1701A-C transversion (<a href="/entry/148060#0012">148060.0012</a>) at the first nucleotide of exon 17 of the PHEX gene, resulting in a synonymous alteration in the protein (R567R). Using RT-PCR, the authors showed that the variant interfered with splicing of exon 16 with 17, resulting in a shorter PHEX transcript compared to controls. Sanger sequencing of the cDNA showed complete skipping of exon 17 and direct splicing of exons 16 and 18, resulting in a frameshift and premature stop codon. The authors predicted that this led to loss of 2 conserved zinc-binding sites in exons 17 and 19, with loss of normal protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896147" 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="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>For a description of the 'Hyp' mouse, a model for XLH, see <a href="/entry/300550">300550</a>.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#39" class="mim-tip-reference" title="Levine, B. S., Kleeman, C. R., Felsenfeld, A. J. <strong>The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.</strong> Clin. J. Am. Soc. Nephrol. 4: 1866-1877, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808223</a>] [<a href="https://doi.org/10.2215/CJN.03000509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808223">Levine et al. (2009)</a> reviewed the elucidation of the genetic cause of X-linked hypophosphatemic rickets and examined in detail the clinical and laboratory features of the original patient, 'W.M.,' described by <a href="#4" class="mim-tip-reference" title="Albright, F., Butler, A. M., Bloomberg, E. <strong>Rickets resistant to vitamin D therapy.</strong> Am. J. Dis. Child. 54: 529-547, 1937."None>Albright et al. (1937)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808223" 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="#Albertsen1987" class="mim-tip-reference" title="Albertsen, H. M., Ahrens, P., Frey, D., Machler, M., Kruse, T. A. <strong>Close linkage between X-linked hypophosphatemia and DXS207 defined by the DNA probe pPA4B. (Abstract)</strong> Cytogenet. Cell Genet. 46: 569, 1987.">Albertsen et al. (1987)</a>; <a href="#Archard1966" class="mim-tip-reference" title="Archard, H. O., Witkop, C. J., Jr. <strong>Hereditary hypophosphatemia (vitamin D-resistant rickets) presenting primary dental manifestations.</strong> Oral Surg. 22: 184-193, 1966.">Archard and Witkop (1966)</a>; <a href="#Blackard1962" class="mim-tip-reference" title="Blackard, W. G., Robinson, R. R., White, J. E. <strong>Familial hypophosphatemia: report of a case, with observations regarding pathogenesis.</strong> New Eng. J. Med. 266: 899-905, 1962.">Blackard et al.
|
|
(1962)</a>; <a href="#Burnett1964" class="mim-tip-reference" title="Burnett, C. H., Dent, C. E., Harper, C., Warland, B. J. <strong>Vitamin D-resistant rickets: analysis of twenty-four pedigrees with hereditary and sporadic cases.</strong> Am. J. Med. 36: 222-232, 1964.">Burnett et al. (1964)</a>; <a href="#Chesney1983" class="mim-tip-reference" title="Chesney, R. W., Mazess, R. B., Rose, P., Hamstra, A. J., DeLuca, H. F., Breed, A. L. <strong>Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets.</strong> Pediatrics 71: 559-567, 1983.">Chesney et al. (1983)</a>; <a href="#Cole1984" class="mim-tip-reference" title="Cole, D. E. C., Scriver, C. R. <strong>The effects of mendelian mutation on renal sulfate and phosphate transport in man and mouse.</strong> Pediat. Res. 18: 25-29, 1984.">Cole and
|
|
Scriver (1984)</a>; <a href="#Condon1971" class="mim-tip-reference" title="Condon, J. R., Nassim, J. R., Rutter, A. <strong>Pathogenesis of rickets and osteomalacia in familial hypophosphataemia.</strong> Arch. Dis. Child. 46: 269-272, 1971.">Condon et al. (1971)</a>; <a href="#Drezner1979" class="mim-tip-reference" title="Drezner, M. K., Haussler, M. R., Lyles, K. W., Harrelson, J. M. <strong>The role of 1,25-dihydroxycholecalciferol (DHCC) in the pathogenesis and treatment of X-linked hypophosphatemic rickets (XHL). (Abstract)</strong> Clin. Res. 27: 365A, 1979.">Drezner et al. (1979)</a>; <a href="#Rasmussen1981" class="mim-tip-reference" title="Rasmussen, H., Pechet, M., Anast, C., Mazur, A., Gertner, J., Broadus, A. E. <strong>Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1-alpha-hydroxyvitamin D(3).</strong> J. Pediat. 99: 16-25, 1981.">Rasmussen et al. (1981)</a>; <a href="#Scriver1991" class="mim-tip-reference" title="Scriver, C. R., Tenenhouse, H. S., Glorieux, F. H. <strong>X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.</strong> Medicine 70: 218-228, 1991.">Scriver et al. (1991)</a>; <a href="#Tenenhouse1975" class="mim-tip-reference" title="Tenenhouse, H. S., Scriver, C. R. <strong>Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia.</strong> J. Clin. Invest. 55: 644-654, 1975.">Tenenhouse and
|
|
Scriver (1975)</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="Adams1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Adams, J. E., Davies, M.
|
|
<strong>Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia.</strong>
|
|
Quart. J. Med. 61: 1117-1129, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3116593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3116593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3116593" 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="2" class="mim-anchor"></a>
|
|
<a id="{ADHR Consortium}2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
ADHR Consortium.
|
|
<strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong>
|
|
Nature Genet. 26: 345-348, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/81664" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Albertsen1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Albertsen, H. M., Ahrens, P., Frey, D., Machler, M., Kruse, T. A.
|
|
<strong>Close linkage between X-linked hypophosphatemia and DXS207 defined by the DNA probe pPA4B. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 569, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Albright1937" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Albright, F., Butler, A. M., Bloomberg, E.
|
|
<strong>Rickets resistant to vitamin D therapy.</strong>
|
|
Am. J. Dis. Child. 54: 529-547, 1937.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Alhamoudi2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Alhamoudi, K. M., Alghamdi, B., Alswailem, M., Nasir, A., Aljomaiah, A., Al-Hindi, H., Alzahrani, A. S.
|
|
<strong>A unique mechanism of a novel synonymous PHEX variant causing X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 107: 2883-2891, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/clinem/dgac435" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Archard1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Archard, H. O., Witkop, C. J., Jr.
|
|
<strong>Hereditary hypophosphatemia (vitamin D-resistant rickets) presenting primary dental manifestations.</strong>
|
|
Oral Surg. 22: 184-193, 1966.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Blackard1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blackard, W. G., Robinson, R. R., White, J. E.
|
|
<strong>Familial hypophosphatemia: report of a case, with observations regarding pathogenesis.</strong>
|
|
New Eng. J. Med. 266: 899-905, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13869673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13869673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13869673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM196205032661801" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Buckle1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G.
|
|
<strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 594-595, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Burnett1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Burnett, C. H., Dent, C. E., Harper, C., Warland, B. J.
|
|
<strong>Vitamin D-resistant rickets: analysis of twenty-four pedigrees with hereditary and sporadic cases.</strong>
|
|
Am. J. Med. 36: 222-232, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14124689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14124689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14124689" 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(64)90085-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Carpenter1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Keller, M., Schwartz, D., Mitnick, M., Smith, C., Ellison, A., Carey, D., Comite, F., Horst, R., Travers, R., Glorieux, F. H., Gundberg, C. M., Poole, A. R., Insogna, K. L.
|
|
<strong>24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.</strong>
|
|
J. Clin. Endocr. Metab. 81: 2381-2388, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8964881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8964881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8964881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.81.6.8964881" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Carpenter1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Mitnick, M. A., Ellison, A., Smith, C., Insogna, K. L.
|
|
<strong>Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 78: 1378-1383, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8200940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8200940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8200940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.78.6.8200940" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Carpenter2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Whyte, M. P., Imel, E. A., Boot, A. M., Hogler, W., Linglart, A., Padidela, R., van't Hoff, W., Mao, M., Chen, C.-Y., Skrinar, A., Kakkis, E., San Martin, J., Portale, A. A.
|
|
<strong>Burosumab therapy in children with X-linked hypophosphatemia.</strong>
|
|
New Eng. J. Med. 378: 1987-1998, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29791829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29791829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29791829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa1714641" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Chesney1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chesney, R. W., Mazess, R. B., Rose, P., Hamstra, A. J., DeLuca, H. F., Breed, A. L.
|
|
<strong>Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets.</strong>
|
|
Pediatrics 71: 559-567, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300745</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6300745" 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="14" class="mim-anchor"></a>
|
|
<a id="Cho2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cho, H. Y., Lee, B. H., Kang, J. H., Ha, I. S., Cheong, H. I., Choi, Y.
|
|
<strong>A clinical and molecular genetic study of hypophosphatemic rickets in children.</strong>
|
|
Pediat. Res. 58: 329-333, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16055933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16055933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16055933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/01.PDR.0000169983.40758.7B" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Cohanim1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cohanim, M., DeLuca, H. F., Yendt, E. R.
|
|
<strong>Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.</strong>
|
|
Johns Hopkins Med. J. 131: 118-132, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340527" 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="16" class="mim-anchor"></a>
|
|
<a id="Cole1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cole, D. E. C., Scriver, C. R.
|
|
<strong>The effects of mendelian mutation on renal sulfate and phosphate transport in man and mouse.</strong>
|
|
Pediat. Res. 18: 25-29, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6701031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6701031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6701031" 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="17" class="mim-anchor"></a>
|
|
<a id="Condon1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Condon, J. R., Nassim, J. R., Rutter, A.
|
|
<strong>Defective intestinal phosphate absorption in familial and non-familial hypophosphatemia.</strong>
|
|
Brit. Med. J. 3: 138-141, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5431084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5431084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5431084" 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/bmj.3.5715.138" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Condon1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Condon, J. R., Nassim, J. R., Rutter, A.
|
|
<strong>Pathogenesis of rickets and osteomalacia in familial hypophosphataemia.</strong>
|
|
Arch. Dis. Child. 46: 269-272, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5090660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5090660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5090660" 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/adc.46.247.269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Davies1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davies, M., Kane, R., Valentine, J.
|
|
<strong>Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.</strong>
|
|
Ann. Intern. Med. 100: 230-232, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6691666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-100-2-230" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Drezner1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Drezner, M. K., Haussler, M. R., Lyles, K. W., Harrelson, J. M.
|
|
<strong>The role of 1,25-dihydroxycholecalciferol (DHCC) in the pathogenesis and treatment of X-linked hypophosphatemic rickets (XHL). (Abstract)</strong>
|
|
Clin. Res. 27: 365A, 1979.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Earp1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Earp, H. S., Ney, R. L., Gitelman, H. J., Richman, R., DeLuca, H. F.
|
|
<strong>Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets.</strong>
|
|
New Eng. J. Med. 283: 627-630, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4317911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4317911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4317911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197009172831204" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Econs1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Barker, D. F., Speer, M. C., Pericak-Vance, M. A., Fain, P. R., Drezner, M. K.
|
|
<strong>A linkage map of the human X-linked hypophosphatemic rickets gene locus. (Abstract)</strong>
|
|
Clin. Res. 39: 330A only, 1991.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Econs1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Friedman, N. E., Rowe, P. S. N., Speer, M. C., Francis, F., Strom, T. M., Oudet, C., Smith, J. A., Ninomiya, J. T., Lee, B. E., Bergen, H.
|
|
<strong>A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 83: 3459-3462, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9768646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9768646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9768646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.83.10.5167" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Econs1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Lobaugh, B., Drezner, M. K.
|
|
<strong>Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 75: 408-411, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1639943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1639943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1639943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.75.2.1639943" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Econs1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Pericak-Vance, M. A., Betz, H., Bartlett, R. J., Speer, M. C., Drezner, M. K.
|
|
<strong>The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.</strong>
|
|
Genomics 7: 439-441, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2163973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90180-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Firth1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Firth, R. G., Grant, C. S., Riggs, B. L.
|
|
<strong>Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia: report of two cases.</strong>
|
|
Am. J. Med. 78: 669-673, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2984933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2984933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2984933" 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(85)90411-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Fishman2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fishman, G., Miller-Hansen, D., Jacobsen, C., Singhal, V. K., Alon, U. S.
|
|
<strong>Hearing impairment in familial X-linked hypophosphatemic rickets.</strong>
|
|
Europ. J. Pediat. 163: 622-623, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15290264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15290264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15290264" 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/s00431-004-1504-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Frymoyer1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frymoyer, J. W., Hodgkin, W.
|
|
<strong>Adult-onset vitamin D-resistant hypophosphatemic osteomalacia: a possible variant of vitamin D-resistant rickets.</strong>
|
|
J. Bone Joint Surg. Am. 59: 101-106, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/188828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">188828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=188828" 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="29" class="mim-anchor"></a>
|
|
<a id="Gaucher2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gaucher, C., Walrant-Debray, O., Nguyen, T.-M., Esterle, L., Garabedian, M., Jehan, F.
|
|
<strong>PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.</strong>
|
|
Hum. Genet. 125: 401-411, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19219621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19219621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19219621" 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/s00439-009-0631-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Glorieux1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H., Scriver, C. R., Reade, T. M., Goldman, H., Rosenborough, A.
|
|
<strong>Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.</strong>
|
|
New Eng. J. Med. 287: 481-487, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4340235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4340235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4340235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197209072871003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Glorieux1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H., Scriver, C. R.
|
|
<strong>Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.</strong>
|
|
Science 175: 997-1000, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4333173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4333173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4333173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.175.4025.997" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Glorieux1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H.
|
|
<strong>Rickets, the continuing challenge. (Editorial)</strong>
|
|
New Eng. J. Med. 325: 1875-1877, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1660099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199112263252609" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Hardy1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hardy, D. C., Murphy, W. A., Siegel, B. A., Reid, I. R., Whyte, M. P.
|
|
<strong>X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features.</strong>
|
|
Radiology 171: 403-414, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2539609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2539609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2539609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1148/radiology.171.2.2539609" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Harrell1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harrell, R. M., Lyles, K. W., Harrelson, J. M., Friedman, N. E., Drezner, M. K.
|
|
<strong>Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia; induction and maintenance with phosphorus and calcitriol.</strong>
|
|
J. Clin. Invest. 75: 1858-1868, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839245" 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/JCI111900" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Harrison1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D.
|
|
<strong>Growth disturbance in hereditary hypophosphatemia.</strong>
|
|
Am. J. Dis. Child. 112: 290-297, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5925614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5925614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5925614" 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.1966.02090130064005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Highman1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Highman, J. H., Sanderson, P. H., Sutcliffe, M. M. L.
|
|
<strong>Vitamin-D-resistant osteomalacia as a cause of spinal cord compression.</strong>
|
|
Quart. J. Med. 39: 529-537, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5532957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5532957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5532957" 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="37" class="mim-anchor"></a>
|
|
<a id="Holm1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holm, I. A., Huang, X., Kunkel, L. M.
|
|
<strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong>
|
|
Am. J. Hum. Genet. 60: 790-797, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106524" 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="38" class="mim-anchor"></a>
|
|
<a id="{HYP Consortium}1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
HYP Consortium.
|
|
<strong>A gene (HYP) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets.</strong>
|
|
Nature Genet. 11: 130-136, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550339" 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/ng1095-130" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Levine2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Levine, B. S., Kleeman, C. R., Felsenfeld, A. J.
|
|
<strong>The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.</strong>
|
|
Clin. J. Am. Soc. Nephrol. 4: 1866-1877, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.2215/CJN.03000509" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Liu2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, E. S., Carpenter, T. O., Gundberg, C. M., Simpson, C. A., Insogna, K. L.
|
|
<strong>Calcitonin administration in X-linked hypophosphatemia. (Letter)</strong>
|
|
New Eng. J. Med. 364: 1678-1680, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21524226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21524226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21524226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMc1010928" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Machler1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Machler, M., Frey, D., Gal, A., Orth, U., Wienker, T. F., Fanconi, A., Schmid, W.
|
|
<strong>X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.</strong>
|
|
Hum. Genet. 73: 271-275, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3015771" 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/BF00401243" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Makitie2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makitie, O., Doria, A., Kooh, S. W., Cole, W. G., Daneman, A., Sochett, E.
|
|
<strong>Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 88: 3591-3597, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2003-030036" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Makras2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makras, P., Hamdy, N. A. T., Kant, S. G., Papapoulos, S. E.
|
|
<strong>Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.</strong>
|
|
J. Clin. Endocr. Metab. 93: 1386-1389, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2007-1296" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="McNair1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McNair, S. L., Stickler, G. B.
|
|
<strong>Growth in familial hypophosphatemic vitamin-D-resistant rickets.</strong>
|
|
New Eng. J. Med. 281: 511-516, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5800510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5800510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5800510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM196909042811001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Moser1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moser, C. R., Fessel, W. J.
|
|
<strong>Rheumatic manifestations of hypophosphatemia.</strong>
|
|
Arch. Intern. Med. 134: 674-678, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4370345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4370345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4370345" 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="46" class="mim-anchor"></a>
|
|
<a id="Nehgme1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nehgme, R., Fahey, J. T., Smith, C., Carpenter, T. O.
|
|
<strong>Cardiovascular abnormalities in patients with X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 82: 2450-2454, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9253316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9253316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9253316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.82.8.4181" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="O'Malley1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Malley, S., Ramsden, R. T., Latif, A., Kane, R., Davies, M.
|
|
<strong>Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.</strong>
|
|
Acta Otolaryng. 100: 13-18, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4040696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4040696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4040696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/00016488509108581" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Petersen1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petersen, D. J., Boniface, A. M., Schranck, F. W., Rupich, R. C., Whyte, M. P.
|
|
<strong>X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy.</strong>
|
|
J. Bone Miner. Res. 7: 583-597, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1414477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1414477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1414477" 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/jbmr.5650070602" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Polisson1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Polisson, R. P., Martinez, S., Khoury, M., Harrell, R. M., Lyles, K. W., Friedman, N., Harrelson, J. M., Reisner, E., Drezner, M. K.
|
|
<strong>Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.</strong>
|
|
New Eng. J. Med. 313: 1-6, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4000222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4000222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4000222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198507043130101" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Quarles2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Quarles, L. D., Drezner, M. K.
|
|
<strong>Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. (Editorial)</strong>
|
|
J. Clin. Endocr. Metab. 86: 494-496, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.86.2.7302" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Rasmussen1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rasmussen, H., Pechet, M., Anast, C., Mazur, A., Gertner, J., Broadus, A. E.
|
|
<strong>Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1-alpha-hydroxyvitamin D(3).</strong>
|
|
J. Pediat. 99: 16-25, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6265614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6265614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6265614" 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(81)80951-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Read1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Read, A. P., Thakker, R. V., Davies, K. E., Mountford, R. C., Brenton, D. P., Davies, M., Glorieux, F., Harris, R., Hendy, G. N., King, A., McGlade, S., Peacock, C. J., Smith, R., O'Riordan, J. L. H.
|
|
<strong>Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.</strong>
|
|
Hum. Genet. 73: 267-270, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3015770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3015770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3015770" 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/BF00401242" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Rivkees1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rivkees, S. A., el-Hajj-Fuleihan, G., Brown, E. M., Crawford, J. D.
|
|
<strong>Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 75: 1514-1518, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1464657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1464657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1464657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.75.6.1464657" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Rowe1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H.
|
|
<strong>Three DNA markers for hypophosphataemic rickets.</strong>
|
|
Hum. Genet. 89: 539-542, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1353055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1353055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1353055" 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/BF00219180" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Sabbagh2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sabbagh, Y., Jones, A. O., Tenenhouse, H. S.
|
|
<strong>PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.</strong>
|
|
Hum. Mutat. 16: 1-6, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Savio2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Savio, R. M., Gosnell, J. E., Posen, S., Reeve, T. S., Delbridge, L. W.
|
|
<strong>Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.</strong>
|
|
Arch. Surg. 139: 218-222, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14769584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14769584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14769584" 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/archsurg.139.2.218" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Scriver1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scriver, C. R., Tenenhouse, H. S., Glorieux, F. H.
|
|
<strong>X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.</strong>
|
|
Medicine 70: 218-228, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1851532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1851532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1851532" 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="58" class="mim-anchor"></a>
|
|
<a id="Seikaly1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Seikaly, M. G., Brown, R., Baum, M.
|
|
<strong>The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.</strong>
|
|
Pediatrics 100: 879-884, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9346990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9346990</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9346990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1542/peds.100.5.879" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Shields1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shields, E. D., Scriver, C. R., Reade, T., Fujiwara, T. M., Morgan, K., Ciampi, A., Schwartz, S.
|
|
<strong>X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.</strong>
|
|
Am. J. Hum. Genet. 46: 434-442, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2155529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2155529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2155529" 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="60" class="mim-anchor"></a>
|
|
<a id="Short1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Short, E. M., Binder, J. H., Rosenberg, L. E.
|
|
<strong>Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa.</strong>
|
|
Science 179: 700-702, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4685042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4685042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4685042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.179.4074.700" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Short1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Short, E. M., Sebastian, A., Spencer, M., Morris, R. C., Jr.
|
|
<strong>Hyperresponsiveness to the phosphaturic effect of parathyroid hormone in X-linked hypophosphatemic vitamin D-resistant rickets (FHR). (Abstract)</strong>
|
|
J. Clin. Invest. 53: 75A, 1974.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Stickler1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stickler, G. B., Morgenstern, B. Z.
|
|
<strong>Hypophosphataemic rickets: final height and clinical symptoms in adults.</strong>
|
|
Lancet 334: 902-905, 1989. Note: Originally Volume 2.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2571821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2571821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2571821" 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/s0140-6736(89)91559-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Stickler1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stickler, G. B.
|
|
<strong>Familial hypophosphatemic vitamin D resistant rickets: the neonatal period and infancy.</strong>
|
|
Acta Paediat. Scand. 58: 213-219, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5783409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5783409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5783409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1651-2227.1969.tb04709.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Tenenhouse1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tenenhouse, H. S., Scriver, C. R.
|
|
<strong>Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia.</strong>
|
|
J. Clin. Invest. 55: 644-654, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1117070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1117070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1117070" 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/JCI107972" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Thakker1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thakker, R. V., Davies, K. E., Read, A. P., Tippett, P., Wooding, C., Flint, T., Wood, S., Kruse, T. A., Whyte, M. P., O'Riordan, J. L. H.
|
|
<strong>Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families.</strong>
|
|
Genomics 8: 189-193, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1979046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90271-u" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Thakker1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thakker, R. V., Read, A. P., Davies, K. E., Whyte, M. P., Weksberg, R., Glorieux, F., Davies, M., Mountford, R. C., Harris, R., King, A., Kim, G. S., Fraser, D., Kooh, S. W., O'Riordan, J. L. H.
|
|
<strong>Bridging markers defining the map position of X linked hypophosphataemic rickets.</strong>
|
|
J. Med. Genet. 24: 756-760, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2828625" 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.24.12.756" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Verge1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Verge, C. F., Lam, A., Simpson, J. M., Cowell, C. T., Howard, N. J., Silink, M.
|
|
<strong>Effects of therapy in X-linked hypophosphatemic rickets.</strong>
|
|
New Eng. J. Med. 325: 1843-1848, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1660098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199112263252604" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Winters1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H.
|
|
<strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong>
|
|
Medicine 37: 97-142, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13565132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13565132</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13565132" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00005792-195805000-00001" 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">
|
|
Sonja A. Rasmussen - updated : 06/23/2023
|
|
</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">
|
|
Ada Hamosh - updated : 07/30/2019<br>Ada Hamosh - updated : 5/23/2011<br>Marla J. F. O'Neill - updated : 10/6/2010<br>Marla J. F. O'Neill - updated : 4/27/2010<br>Cassandra L. Kniffin - updated : 2/20/2006<br>Cassandra L. Kniffin - updated : 8/15/2005<br>John A. Phillips, III - updated : 11/4/2004<br>John A. Phillips, III - updated : 7/21/2004<br>Marla J. F. O'Neill - updated : 5/12/2004<br>Victor A. McKusick - updated : 12/8/2003<br>John A. Phillips, III - updated : 10/21/2003<br>George E. Tiller - updated : 12/19/2001<br>John A. Phillips, III - updated : 8/1/2001<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 9/8/1999<br>John A. Phillips, III - updated : 3/23/1999<br>Jennifer P. Macke - updated : 5/4/1998<br>John A. Phillips, III - updated : 11/8/1997<br>John A. Phillips, III - updated : 9/18/1997<br>Victor A. McKusick - updated : 6/12/1997<br>Victor A. McKusick - updated : 4/28/1997<br>Victor A. McKusick - updated : 2/25/1997<br>John A. Phillips, III - updated : 9/26/1996
|
|
</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 : 6/4/1986
|
|
</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 : 04/30/2024
|
|
</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 : 06/23/2023<br>alopez : 07/30/2019<br>alopez : 07/30/2019<br>carol : 03/03/2017<br>alopez : 02/15/2017<br>alopez : 09/23/2016<br>carol : 07/23/2014<br>carol : 7/23/2014<br>alopez : 5/24/2011<br>terry : 5/23/2011<br>terry : 1/13/2011<br>wwang : 10/8/2010<br>terry : 10/6/2010<br>carol : 4/27/2010<br>terry : 4/13/2009<br>alopez : 1/14/2009<br>carol : 5/29/2008<br>carol : 3/28/2007<br>wwang : 3/1/2006<br>ckniffin : 2/20/2006<br>ckniffin : 9/7/2005<br>carol : 9/1/2005<br>ckniffin : 8/15/2005<br>alopez : 11/4/2004<br>alopez : 7/21/2004<br>carol : 5/12/2004<br>terry : 5/12/2004<br>carol : 3/17/2004<br>tkritzer : 12/9/2003<br>terry : 12/8/2003<br>alopez : 10/21/2003<br>cwells : 8/27/2003<br>cwells : 12/19/2001<br>mgross : 8/1/2001<br>carol : 8/7/2000<br>jlewis : 9/17/1999<br>jlewis : 9/16/1999<br>terry : 9/8/1999<br>terry : 6/9/1999<br>mgross : 3/24/1999<br>mgross : 3/23/1999<br>carol : 3/18/1999<br>carol : 7/17/1998<br>terry : 7/14/1998<br>alopez : 5/4/1998<br>joanna : 3/5/1998<br>dholmes : 2/10/1998<br>alopez : 12/10/1997<br>alopez : 12/4/1997<br>alopez : 12/3/1997<br>dholmes : 11/11/1997<br>dholmes : 11/11/1997<br>terry : 11/5/1997<br>dholmes : 10/24/1997<br>dholmes : 10/15/1997<br>mark : 7/16/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>alopez : 4/28/1997<br>alopez : 4/28/1997<br>terry : 4/24/1997<br>mark : 2/25/1997<br>terry : 2/24/1997<br>mark : 12/9/1996<br>terry : 11/26/1996<br>carol : 9/26/1996<br>mark : 9/12/1996<br>terry : 9/4/1996<br>mark : 2/16/1996<br>mark : 12/13/1995<br>mark : 10/10/1995<br>terry : 8/26/1994<br>pfoster : 5/12/1994<br>carol : 4/14/1994<br>mimadm : 2/27/1994<br>carol : 1/13/1993
|
|
</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> 307800
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHRD
|
|
|
|
</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">
|
|
HYPOPHOSPHATEMIA, X-LINKED; XLH<br />
|
|
HYP<br />
|
|
VITAMIN D-RESISTANT RICKETS, X-LINKED<br />
|
|
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 82236004;
|
|
|
|
|
|
<strong>ICD10CM:</strong> E83.31;
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 89936;
|
|
|
|
|
|
<strong>DO:</strong> 0050445;
|
|
|
|
|
|
</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">
|
|
Xp22.11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypophosphatemic rickets, X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
307800
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHEX
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300550
|
|
</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 X-linked dominant hypophosphatemic rickets (XLHRD) is caused by mutation in the phosphate-regulating endopeptidase gene (PHEX; 300550) on chromosome Xp22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of hypophosphatemic rickets, see 193100.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>X-linked dominant hypophosphatemic rickets (XLHRD), although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by Gaucher et al., 2009). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Winters et al. (1958) observed hypophosphatemia in a large North Carolina family of English-Scottish extraction. The degree of depression of serum phosphate was the same in males and females, although the severity of bone disease was much less severe in females. There were no instances of male-to-male transmission of either bone disease or hypophosphatemia, and all daughters of hypophosphatemic males were themselves hypophosphatemic, suggesting X-linked dominant inheritance. Affected persons, both males and females, showed a reduction in renal phosphate reabsorption per glomerular filtration rate (TmP/GFR) to about 50% of normal. </p><p>In a study of patients with hypophosphatemia, Stickler (1969) concluded that hypophosphatemia was already present in the neonatal period, that alkaline phosphatase was elevated at 1 month of age, and that early treatment with high doses of vitamin D did not prevent growth failure. Patients with the X-linked disorder do not show muscle weakness, tetany, or hypocalcemia. </p><p>Adults, especially males, with XLH may develop progressive ankylosis of the spine and major joints, simulating ankylosing spondylitis (106300). Highman et al. (1970) reported compression of the spinal cord or 'spinal stenosis,' and noted that treatment with vitamin D may be responsible. Moser and Fessel (1974) commented on the misdiagnosis of ankylosing spondylitis in adults. Adams and Davies (1986) described 4 XLH patients with spinal cord compression; 3 had successful treatment with decompressive laminectomy. At surgery, new bone formation in the ligamentum flavum and thickening of laminae were found to be responsible for the canal stenosis and cord compression. Computed tomography was useful in evaluating the site and extent of intraspinal new bone formation. </p><p>Polisson et al. (1985) studied the calcification and ossification of entheses (tendons, ligaments, and joint capsules) in 26 patients from 11 kindreds with XLH. They found entheses involvement in 69% of patients, with the most commonly affected sites being the hand and sacroiliac joints. Histologic examination of 1 case showed intratendinous lamellar bone without inflammatory cells. Polisson et al. (1985) concluded that calcification of entheses is an integral part of XLH, which can be differentiated from degenerative disorders and seronegative spondyloarthropathies. Hardy et al. (1989) analyzed the skeletal radiographic features in 38 'essentially untreated' adults with XLH. Osteoarthritis was common in the ankles, wrists, knees, feet, and sacroiliac joints. All of the older patients had enthesopathy, often accompanied by extra ossicles. Curvatures of the lower-extremity long bones were common in all age groups. Other findings included flaring of the iliac wings, trapezoidal distal femoral condyles, shortening of the talar neck, and flattening of the talar dome. The findings were more severe in men. </p><p>Shields et al. (1990) used the index they call PRATIO (ratio of pulp area to tooth area) to study patients with X-linked hypophosphatemia. They found high values in affected males and intermediate values in heterozygous females, suggesting primary expression of the causative gene in the teeth, as well as in the kidney. </p><p>Patients with XLH have normal or low serum levels of 1,25-dihydroxyvitamin D3 (also known as calcitriol, the active form of vitamin D), despite having hypophosphatemia, which is a known stimulus of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (CYP27B1; 609506). Administration of parathyroid hormone (PTH; 168450) results in blunted stimulation of serum calcitriol levels in both humans and the murine model of XLH, the 'Hyp' mouse. However, Econs et al. (1992) found that calcitriol concentrations increased in XLH patients in response to calcitonin (114130), as had been observed in the mouse. The findings indicated that patients with XLH have an incomplete defect in the regulation of 25-hydroxyvitamin D-1-alpha-hydroxylase activity: no response to PTH, but normal response to calcitonin. </p><p>Deafness has been rarely reported in humans with X-linked hypophosphatemia (Davies et al., 1984; O'Malley et al., 1985). However, Fishman et al. (2004) concluded that hearing impairment is not a feature of XLH in childhood. They found that 15 of 15 children under the age of 18 years showed no deficits attributable to XLH; 1 had hearing loss due to other causes. Three of 10 parents with XLH did show sensorineural hearing loss, suggesting that hearing loss in adults is due to XLH, particularly in cases with severe bone involvement. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Glorieux et al. (1972) found growth restoration in patients with XLH when inorganic phosphate and vitamin D2 were administered, consistent with the theory that the defect was primarily due to loss of phosphate at the level of the renal tubule. They also showed a direct correlation between the level of serum inorganic phosphate and whole blood oxygen pressure at 50% oxygen saturation, and speculated that low Pi may inhibit synthesis of 2,3-diphosphoglycerate in red cells with resulting inhibition of release of oxygen to tissues. Glorieux et al. (1972) suggested that this might be the mechanism of growth retardation. </p><p>On the basis of a follow-up study, McNair and Stickler (1969) questioned whether vitamin D therapy had any beneficial effect on growth in familial hypophosphatemic rickets. Stickler and Morgenstern (1989) analyzed heights and symptoms of 52 patients, aged at least 18 years, with hypophosphatemic rickets. They found no evidence that any form of treatment had any effect on adult height, symptoms, or alkaline phosphatase levels. There was a negative relation between adult height and the number of osteotomies undergone. Stickler and Morgenstern (1989) concluded that complications of treatment with vitamin D, such as renal failure, which appeared secondary to vitamin D intoxication in 3 patients in their twenties, outweighed any possible benefits. </p><p>Both vitamin D and phosphate supplementation are necessary for the treatment of X-linked hypophosphatemia, whereas calcitriol alone and phosphate alone appear to suffice in the autosomal dominant (193100) and autosomal recessive (241520) disorders, respectively. Harrell et al. (1985) found that complete healing of the bone lesions in X-linked hypophosphatemic patients could be induced with supraphysiologic doses of calcitriol, 1,25(OH)2-vitamin D, in combination with oral phosphorus. Although calcitriol dose reduction was necessary once healing was achieved, bone was maintained normally for up to a year on lower doses of 1,25(OH)-vitamin D and continued phosphorus supplementation. However, therapy only partially corrected skeletal lesions and was often complicated by hyperparathyroidism. </p><p>Because of the disputed value of phosphate and vitamin D therapy and the recognized complication of nephrocalcinosis, Verge et al. (1991), in Sydney, Australia, studied therapy in 9 boys and 15 girls and compared the results with those reported in 1971 in 16 untreated Australian patients. The 19 patients treated for at least 2 years before the onset of puberty had a mean height standard-deviation score of -1.08, as compared with -2.05 in the untreated historical controls. Nineteen of the 24 patients had nephrocalcinosis detected on renal ultrasonography. The grade of nephrocalcinosis was significantly correlated with the mean phosphate dose, but not with the dose of vitamin D or the duration of therapy. However, all patients had normal serum creatinine concentrations. Glorieux (1991) suggested that the reason Verge et al. (1991) failed to find a correlation with the dose of vitamin D was due to their use of a narrow range of dosages in their patients. Glorieux (1991) commented that combined treatment had brought about a dramatic decrease in the need for corrective osteotomies in this disorder and that the question of whether treatment should be continued after growth has ceased remained an open question. He also referred to the informative patient described by Harrison et al. (1966): a girl with dwarfism and X-linked hypophosphatemic rickets had severe vitamin D intoxication at the age of 3 years, which permanently reduced her glomerular filtration rate by 50%. As a consequence of the renal dysfunction, her serum phosphate concentration thereafter became normal and her growth rate accelerated so that her height reached the 50th percentile by the time she became an adult. </p><p>Petersen et al. (1992) reviewed the growth patterns of 20 children with XLH. Their findings suggested that calcitriol has a direct effect on the renal tubule to improve reclamation of inorganic phosphate in this disorder. Heterozygous girls appeared to respond to therapy better than did hemizygous boys, an observation that provided evidence for a gene dosage effect in the expression of this disorder. </p><p>Firth et al. (1985) reported 2 patients with hypophosphatemic rickets in whom long-term (over 10 years) therapy with phosphate and vitamin D resulted in hypercalcemic hyperparathyroidism with surgically proven adenomatous hyperplasia, consistent with tertiary hyperparathyroidism. Rivkees et al. (1992) reported the development of tertiary hyperparathyroidism in 3 girls with hypophosphatemic rickets treated with high doses of phosphate and vitamin D. Even in the presence of very high parathyroid hormone, oral phosphate lowered serum calcium and stimulated further PTH secretion. Surgical resection in all 3 cases showed profound multiglandular parathyroid hyperplasia. Carpenter et al. (1994) demonstrated exaggerated nocturnal rises in PTH in patients with XLH. They suggested that hyperparathyroidism in untreated XLH is a secondary event that compensates for impaired skeletal calcium mobilization. Hyperparathyroidism may contribute to the pathogenesis of nephrocalcinosis and precede the development of tertiary hyperparathyroidism. Although 2 of their patients with previous elevations of PTH showed normalization after medication adjustments, continued therapy appeared to aggravate the hyperparathyroidism. Tertiary hyperparathyroidism is thus a complication of treatment that exacerbates the primary disease process of renal tubular phosphate wasting, often prompting an increase in supplementary phosphate, which further stimulates the parathyroid gland. Savio et al. (2004) reported 6 unrelated patients with XLH who developed tertiary hyperparathyroidism after long-term therapy with phosphate and vitamin D. After parathyroidectomy, the patients developed severe hypocalcemia necessitating intravenous calcium infusion. Long-term, all patients achieved normocalcemia. </p><p>In a placebo-controlled trial of 24,25(OH)2D3 supplementation in 15 HYP patients, Carpenter et al. (1996) found that supplementation with 24,25(OH)2D3 normalized PTH values in 9 subjects (peak PTH was 46.5 +/- 6.6 pmol/L at entry, 42.3 +/- 5.9 pmol/L after placebo, and 23.3 +/- 5.4 pmol/L after 24,25(OH)2D3). Nephrogenous cAMP decreased at night, coincident with the decrease in PTH, and serum phosphorus was slightly greater with 24,25(OH)2D3 treatment. Radiographic features of rickets improved during 24,25(OH)2D3 supplementation in children, and osteoid surface decreased in bone biopsies of adults. </p><p>Despite oral phosphate and 1,25-dihydroxyvitamin D3 treatment, many patients with X-linked hypophosphatemic rickets have suboptimal growth and bone healing. In a study of 19 well-controlled HYP patients, Makitie et al. (2003) found that the 8 patients who had treatment before age 1.0 years had higher median height z-scores than the 11 patients with treatment onset after age 1.0 years. Scores were higher in the early treatment group at treatment onset (-0.4 SD vs -1.7 SD), at the end of the first treatment year (-0.7 SD vs -1.8 SD), throughout childhood, and until predicted adult height. The degree of hypophosphatemia was similar in both groups, but serum alkaline phosphatase remained higher in the second group throughout childhood. Radiographic signs of rickets were more marked in the second group, but even patients with early treatment developed significant skeletal changes of rickets. The authors concluded that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development. </p><p>Nehgme et al. (1997) evaluated cardiovascular status in 13 XLH patients. While their serum calcium and creatinine clearances were normal, they all had mild to moderate nephrocalcinosis. Left ventricular hypertrophy was diagnosed by electrocardiogram in 3 and by ultrasonography in 7. Although baseline blood pressures (BP) were normal, the patients showed an abnormal increase in diastolic BP at all levels of workload; their peak/(mean +/- SD) exercise diastolic BP was 91 +/- 12 versus 72 +/- 6 mm Hg in controls (p less than 0.0001). The authors suggested that patients with XLH should be monitored closely for the development of hypertension and left ventricular hypertrophy. </p><p>Seikaly et al. (1997) studied the effects of recombinant growth hormone (GH; 139250) therapy on height, mineral metabolism, parathyroid function, serum 1,25-(OH)2 vitamin D, osteocalcin, growth hormone, urinary calcium, phosphate, nephrocalcinosis, renal function, and bone density in 5 children with XLH. The growth velocity standard deviation score was -1.90 +/- 0.40 during 12 months of placebo administration and 4.04 +/- 1.50 during 12 months of recombinant GH therapy. An increase in serum phosphate from 0.88 +/- 0.07 to 1.17 +/- 0.14 mmol/L, and in the tubular maximum for phosphate reabsorption from 2.12 +/- 0.15 to 3.41 +/- 0.25 mg/dL, was observed after 3 months of recombinant GH therapy. However, both serum phosphate and tubular maximum for phosphate reabsorption were unchanged from baseline after 6, 9, and 12 months of recombinant GH therapy. Seikaly et al. (1997) concluded that patients with XLH have an improvement in linear growth and a transient increase in serum phosphate attributable to a transient decrease in urinary phosphate excretion when treated with recombinant GH. </p><p>Liu et al. (2011) measured the serum levels of FGF23 (605380) and indices of mineral metabolism over 24 hours in 7 untreated patients with X-linked hypophosphatemia and in 6 controls after a single subcutaneous injection of 200 IU of salmon calcitonin. The patients had a significant drop in serum FGF23 level from baseline 4 hours after injection, and levels remained below baseline for 16 hours. The controls showed no significant change in FGF23 levels. Liu et al. (2011) suggested that their study raised the possibility that calcitonin is a therapeutic option for patients with X-linked hypophosphatemia. </p><p>Carpenter et al. (2018) performed an open-label, phase 2 clinical trial randomly assigning 52 children between 5 and 12 years of age with X-linked hypophosphatemia, in a 1:1 ratio, to receive subcutaneous burosumab, a monoclonal antibody that targets FGF23, either every 2 weeks or every 4 weeks. The primary endpoint was the change from baseline to weeks 40 and 64 in the Thacher rickets severity total score. In addition, the Radiographic Global Impression of Change was used to evaluate rachitic changes from baseline to week 40 and to week 64. Treatment with burosumab improved the severity of rickets, linear growth, renal tubular phosphate reabsorption, and serum phosphorus levels. Physical ability improved and pain decreased. Nearly all the adverse events were mild or moderate in severity. Carpenter et al. (2018) concluded that burosumab at a dose of approximately 1.0 mg/kg administered every 2 weeks is an appropriate regimen for improving renal tubular phosphate reabsorption and clinical outcomes in children with X-linked hypophosphatemia. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By an oral phosphate tolerance test, Condon et al. (1970) demonstrated defective intestinal absorption of phosphate in familial hypophosphatemia. Short et al. (1973) demonstrated a defect in transport of inorganic phosphate by intestinal mucosa in familial hypophosphatemia. Earp et al. (1970) and Cohanim et al. (1972) found that treatment with 25-hydroxycholecalciferol was ineffective in patients with familial hypophosphatemic rickets, suggesting that the basic defect was not in the conversion of vitamin D to the active form. Glorieux and Scriver (1972) postulated a defect in the parathyroid hormone-sensitive component of phosphate transport in kidney cells. Since calcium promotes phosphate reabsorption, the authors suggested that any beneficial effect of vitamin D therapy was secondary to the effects on calcium metabolism. Short et al. (1974) proposed that the renal tubule in XLH is hyperresponsive to the phosphaturic effect of parathyroid hormone. </p><p>Quarles and Drezner (2001) reviewed the pathophysiology of X-linked hypophosphatemia. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>From a study of the comparative mapping of the human and mouse X chromosomes and the location of mouse Hpdr (also symbolized Hyp), Buckle et al. (1985) predicted that the human HPDR locus may be either between GLA (300644) and HPRT (308000) or in the distal part of Xp.</p><p>Studying 11 XLH families with RFLP markers, Read et al. (1986) mapped the XLH locus distal to DXS41, which had been located at Xp22.31-p21.3 by in situ hybridization (peak lod score of 4.82 at 10% recombination). Machler et al. (1986) found closer linkage with DXS41 (peak lod of 5.084 at theta = 0.00); there was no recombination in 17 meiotic events. Both groups concluded that the location on distal Xp is consistent with the scheme that relates the mouse and human X chromosomes by 2 inverted insertions (Buckle et al., 1985). Thakker et al. (1987) established that the HPDR1 locus lies distal to DXS41 and proximal to DXS43, located 11 cM and 14 cM, respectively, from the 2 markers. </p><p>Econs et al. (1990) demonstrated linkage of the XLH gene to a polymorphic probe derived from the glycine receptor alpha-2 gene (GLRA2; 305990). Econs et al. (1991) identified closely situated flanking markers in region Xp22.2-p22.1. </p><p>In 14 of 15 families with X-linked hypophosphatemia inherited through 2 or more generations, Rowe et al. (1992) found close linkage to 3 DNA markers. The 1 exception was a family with a large number of recombinants, 4 of which were double recombinants. Rowe et al. (1992) suggested that the disease in this family (family A) mapped elsewhere on the X chromosome or on an autosome. This family had been described by Read et al. (1986) and by Thakker et al. (1987, 1990), and was later found to have autosomal dominant disease (193100) caused by mutation in the FGF23 gene (ADHR Consortium, 2000). </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 3 unrelated patients with X-linked hypophosphatemia, the HYP Consortium (1995) identified 3 different mutations in the PHEX gene (300550.0001-300550.0003). </p><p>Holm et al. (1997) identified mutations in the PHEX gene in 9 of 22 unrelated patients: 3 nonsense mutations, a 1-bp deletion leading to a frameshift, a donor-splice site mutation, and missense mutations in 4 patients (see, e.g., 300550.0004-300550.0006). </p><p>In affected members of a kindred originally reported by Frymoyer and Hodgkin (1977) as having a distinct disorder they designated as 'adult-onset vitamin D-resistant hypophosphatemic osteomalacia' (AVDRR), Econs et al. (1998) identified a missense mutation in the PHEX gene (L555P; 300550.0007). Econs et al. (1998) concluded that there is only one form of X-linked dominant phosphate wasting. </p><p>Sabbagh et al. (2000) stated that 131 HYP-causing mutations in the PHEX gene had been reported. They announced the creation of an online PHEX mutation database for the collection and distribution of information on PHEX mutations. </p><p>Cho et al. (2005) identified mutations in the PHEX gene in 8 of 17 unrelated Korean patients with hypophosphatemic rickets; the 9 patients without mutations were all female. No genotype-phenotype correlations were identified among the children with PHEX mutations. Treatment with vitamin D and phosphate was frequently complicated by hypercalciuria, hypercalcemia, nephrocalcinosis, or hyperparathyroidism. </p><p>Makras et al. (2008) described 3 members of a family in which a splice site mutation in the PHEX gene resulted in hypophosphatemic rickets with muscle dysfunction and normal growth (300550.0011). </p><p>In a mother and her son and 2 daughters with X-linked hypophosphatemic rickets, Alhamoudi et al. (2022) identified a c.1701A-C transversion (148060.0012) at the first nucleotide of exon 17 of the PHEX gene, resulting in a synonymous alteration in the protein (R567R). Using RT-PCR, the authors showed that the variant interfered with splicing of exon 16 with 17, resulting in a shorter PHEX transcript compared to controls. Sanger sequencing of the cDNA showed complete skipping of exon 17 and direct splicing of exons 16 and 18, resulting in a frameshift and premature stop codon. The authors predicted that this led to loss of 2 conserved zinc-binding sites in exons 17 and 19, with loss of normal protein function. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>For a description of the 'Hyp' mouse, a model for XLH, see 300550.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Levine et al. (2009) reviewed the elucidation of the genetic cause of X-linked hypophosphatemic rickets and examined in detail the clinical and laboratory features of the original patient, 'W.M.,' described by Albright et al. (1937). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Albertsen et al. (1987); Archard and Witkop (1966); Blackard et al.
|
|
(1962); Burnett et al. (1964); Chesney et al. (1983); Cole and
|
|
Scriver (1984); Condon et al. (1971); Drezner et al. (1979);
|
|
Rasmussen et al. (1981); Scriver et al. (1991); Tenenhouse and
|
|
Scriver (1975)
|
|
</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">
|
|
Adams, J. E., Davies, M.
|
|
<strong>Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia.</strong>
|
|
Quart. J. Med. 61: 1117-1129, 1986.
|
|
|
|
|
|
[PubMed: 3116593]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
ADHR Consortium.
|
|
<strong>Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.</strong>
|
|
Nature Genet. 26: 345-348, 2000.
|
|
|
|
|
|
[PubMed: 11062477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/81664]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Albertsen, H. M., Ahrens, P., Frey, D., Machler, M., Kruse, T. A.
|
|
<strong>Close linkage between X-linked hypophosphatemia and DXS207 defined by the DNA probe pPA4B. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 46: 569, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Albright, F., Butler, A. M., Bloomberg, E.
|
|
<strong>Rickets resistant to vitamin D therapy.</strong>
|
|
Am. J. Dis. Child. 54: 529-547, 1937.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Alhamoudi, K. M., Alghamdi, B., Alswailem, M., Nasir, A., Aljomaiah, A., Al-Hindi, H., Alzahrani, A. S.
|
|
<strong>A unique mechanism of a novel synonymous PHEX variant causing X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 107: 2883-2891, 2022.
|
|
|
|
|
|
[PubMed: 35896147]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/clinem/dgac435]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Archard, H. O., Witkop, C. J., Jr.
|
|
<strong>Hereditary hypophosphatemia (vitamin D-resistant rickets) presenting primary dental manifestations.</strong>
|
|
Oral Surg. 22: 184-193, 1966.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blackard, W. G., Robinson, R. R., White, J. E.
|
|
<strong>Familial hypophosphatemia: report of a case, with observations regarding pathogenesis.</strong>
|
|
New Eng. J. Med. 266: 899-905, 1962.
|
|
|
|
|
|
[PubMed: 13869673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM196205032661801]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G.
|
|
<strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 594-595, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burnett, C. H., Dent, C. E., Harper, C., Warland, B. J.
|
|
<strong>Vitamin D-resistant rickets: analysis of twenty-four pedigrees with hereditary and sporadic cases.</strong>
|
|
Am. J. Med. 36: 222-232, 1964.
|
|
|
|
|
|
[PubMed: 14124689]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(64)90085-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Keller, M., Schwartz, D., Mitnick, M., Smith, C., Ellison, A., Carey, D., Comite, F., Horst, R., Travers, R., Glorieux, F. H., Gundberg, C. M., Poole, A. R., Insogna, K. L.
|
|
<strong>24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.</strong>
|
|
J. Clin. Endocr. Metab. 81: 2381-2388, 1996.
|
|
|
|
|
|
[PubMed: 8964881]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.81.6.8964881]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Mitnick, M. A., Ellison, A., Smith, C., Insogna, K. L.
|
|
<strong>Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 78: 1378-1383, 1994.
|
|
|
|
|
|
[PubMed: 8200940]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.78.6.8200940]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carpenter, T. O., Whyte, M. P., Imel, E. A., Boot, A. M., Hogler, W., Linglart, A., Padidela, R., van't Hoff, W., Mao, M., Chen, C.-Y., Skrinar, A., Kakkis, E., San Martin, J., Portale, A. A.
|
|
<strong>Burosumab therapy in children with X-linked hypophosphatemia.</strong>
|
|
New Eng. J. Med. 378: 1987-1998, 2018.
|
|
|
|
|
|
[PubMed: 29791829]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1714641]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chesney, R. W., Mazess, R. B., Rose, P., Hamstra, A. J., DeLuca, H. F., Breed, A. L.
|
|
<strong>Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets.</strong>
|
|
Pediatrics 71: 559-567, 1983.
|
|
|
|
|
|
[PubMed: 6300745]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cho, H. Y., Lee, B. H., Kang, J. H., Ha, I. S., Cheong, H. I., Choi, Y.
|
|
<strong>A clinical and molecular genetic study of hypophosphatemic rickets in children.</strong>
|
|
Pediat. Res. 58: 329-333, 2005.
|
|
|
|
|
|
[PubMed: 16055933]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/01.PDR.0000169983.40758.7B]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cohanim, M., DeLuca, H. F., Yendt, E. R.
|
|
<strong>Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.</strong>
|
|
Johns Hopkins Med. J. 131: 118-132, 1972.
|
|
|
|
|
|
[PubMed: 4340527]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cole, D. E. C., Scriver, C. R.
|
|
<strong>The effects of mendelian mutation on renal sulfate and phosphate transport in man and mouse.</strong>
|
|
Pediat. Res. 18: 25-29, 1984.
|
|
|
|
|
|
[PubMed: 6701031]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Condon, J. R., Nassim, J. R., Rutter, A.
|
|
<strong>Defective intestinal phosphate absorption in familial and non-familial hypophosphatemia.</strong>
|
|
Brit. Med. J. 3: 138-141, 1970.
|
|
|
|
|
|
[PubMed: 5431084]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bmj.3.5715.138]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Condon, J. R., Nassim, J. R., Rutter, A.
|
|
<strong>Pathogenesis of rickets and osteomalacia in familial hypophosphataemia.</strong>
|
|
Arch. Dis. Child. 46: 269-272, 1971.
|
|
|
|
|
|
[PubMed: 5090660]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.46.247.269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davies, M., Kane, R., Valentine, J.
|
|
<strong>Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.</strong>
|
|
Ann. Intern. Med. 100: 230-232, 1984.
|
|
|
|
|
|
[PubMed: 6691666]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-100-2-230]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Drezner, M. K., Haussler, M. R., Lyles, K. W., Harrelson, J. M.
|
|
<strong>The role of 1,25-dihydroxycholecalciferol (DHCC) in the pathogenesis and treatment of X-linked hypophosphatemic rickets (XHL). (Abstract)</strong>
|
|
Clin. Res. 27: 365A, 1979.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Earp, H. S., Ney, R. L., Gitelman, H. J., Richman, R., DeLuca, H. F.
|
|
<strong>Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets.</strong>
|
|
New Eng. J. Med. 283: 627-630, 1970.
|
|
|
|
|
|
[PubMed: 4317911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197009172831204]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Barker, D. F., Speer, M. C., Pericak-Vance, M. A., Fain, P. R., Drezner, M. K.
|
|
<strong>A linkage map of the human X-linked hypophosphatemic rickets gene locus. (Abstract)</strong>
|
|
Clin. Res. 39: 330A only, 1991.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Friedman, N. E., Rowe, P. S. N., Speer, M. C., Francis, F., Strom, T. M., Oudet, C., Smith, J. A., Ninomiya, J. T., Lee, B. E., Bergen, H.
|
|
<strong>A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 83: 3459-3462, 1998.
|
|
|
|
|
|
[PubMed: 9768646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.83.10.5167]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Lobaugh, B., Drezner, M. K.
|
|
<strong>Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 75: 408-411, 1992.
|
|
|
|
|
|
[PubMed: 1639943]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.75.2.1639943]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Econs, M. J., Pericak-Vance, M. A., Betz, H., Bartlett, R. J., Speer, M. C., Drezner, M. K.
|
|
<strong>The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.</strong>
|
|
Genomics 7: 439-441, 1990.
|
|
|
|
|
|
[PubMed: 2163973]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90180-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Firth, R. G., Grant, C. S., Riggs, B. L.
|
|
<strong>Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia: report of two cases.</strong>
|
|
Am. J. Med. 78: 669-673, 1985.
|
|
|
|
|
|
[PubMed: 2984933]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(85)90411-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fishman, G., Miller-Hansen, D., Jacobsen, C., Singhal, V. K., Alon, U. S.
|
|
<strong>Hearing impairment in familial X-linked hypophosphatemic rickets.</strong>
|
|
Europ. J. Pediat. 163: 622-623, 2004.
|
|
|
|
|
|
[PubMed: 15290264]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00431-004-1504-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frymoyer, J. W., Hodgkin, W.
|
|
<strong>Adult-onset vitamin D-resistant hypophosphatemic osteomalacia: a possible variant of vitamin D-resistant rickets.</strong>
|
|
J. Bone Joint Surg. Am. 59: 101-106, 1977.
|
|
|
|
|
|
[PubMed: 188828]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gaucher, C., Walrant-Debray, O., Nguyen, T.-M., Esterle, L., Garabedian, M., Jehan, F.
|
|
<strong>PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.</strong>
|
|
Hum. Genet. 125: 401-411, 2009.
|
|
|
|
|
|
[PubMed: 19219621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-009-0631-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H., Scriver, C. R., Reade, T. M., Goldman, H., Rosenborough, A.
|
|
<strong>Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.</strong>
|
|
New Eng. J. Med. 287: 481-487, 1972.
|
|
|
|
|
|
[PubMed: 4340235]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197209072871003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H., Scriver, C. R.
|
|
<strong>Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.</strong>
|
|
Science 175: 997-1000, 1972.
|
|
|
|
|
|
[PubMed: 4333173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.175.4025.997]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glorieux, F. H.
|
|
<strong>Rickets, the continuing challenge. (Editorial)</strong>
|
|
New Eng. J. Med. 325: 1875-1877, 1991.
|
|
|
|
|
|
[PubMed: 1660099]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199112263252609]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hardy, D. C., Murphy, W. A., Siegel, B. A., Reid, I. R., Whyte, M. P.
|
|
<strong>X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features.</strong>
|
|
Radiology 171: 403-414, 1989.
|
|
|
|
|
|
[PubMed: 2539609]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1148/radiology.171.2.2539609]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harrell, R. M., Lyles, K. W., Harrelson, J. M., Friedman, N. E., Drezner, M. K.
|
|
<strong>Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia; induction and maintenance with phosphorus and calcitriol.</strong>
|
|
J. Clin. Invest. 75: 1858-1868, 1985.
|
|
|
|
|
|
[PubMed: 3839245]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111900]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harrison, H. E., Harrison, H. C., Lifshitz, F., Johnson, A. D.
|
|
<strong>Growth disturbance in hereditary hypophosphatemia.</strong>
|
|
Am. J. Dis. Child. 112: 290-297, 1966.
|
|
|
|
|
|
[PubMed: 5925614]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archpedi.1966.02090130064005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Highman, J. H., Sanderson, P. H., Sutcliffe, M. M. L.
|
|
<strong>Vitamin-D-resistant osteomalacia as a cause of spinal cord compression.</strong>
|
|
Quart. J. Med. 39: 529-537, 1970.
|
|
|
|
|
|
[PubMed: 5532957]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holm, I. A., Huang, X., Kunkel, L. M.
|
|
<strong>Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.</strong>
|
|
Am. J. Hum. Genet. 60: 790-797, 1997.
|
|
|
|
|
|
[PubMed: 9106524]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
HYP Consortium.
|
|
<strong>A gene (HYP) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets.</strong>
|
|
Nature Genet. 11: 130-136, 1995.
|
|
|
|
|
|
[PubMed: 7550339]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1095-130]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Levine, B. S., Kleeman, C. R., Felsenfeld, A. J.
|
|
<strong>The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.</strong>
|
|
Clin. J. Am. Soc. Nephrol. 4: 1866-1877, 2009.
|
|
|
|
|
|
[PubMed: 19808223]
|
|
|
|
|
|
[Full Text: https://doi.org/10.2215/CJN.03000509]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, E. S., Carpenter, T. O., Gundberg, C. M., Simpson, C. A., Insogna, K. L.
|
|
<strong>Calcitonin administration in X-linked hypophosphatemia. (Letter)</strong>
|
|
New Eng. J. Med. 364: 1678-1680, 2011.
|
|
|
|
|
|
[PubMed: 21524226]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1010928]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Machler, M., Frey, D., Gal, A., Orth, U., Wienker, T. F., Fanconi, A., Schmid, W.
|
|
<strong>X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.</strong>
|
|
Hum. Genet. 73: 271-275, 1986.
|
|
|
|
|
|
[PubMed: 3015771]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00401243]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Makitie, O., Doria, A., Kooh, S. W., Cole, W. G., Daneman, A., Sochett, E.
|
|
<strong>Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 88: 3591-3597, 2003.
|
|
|
|
|
|
[PubMed: 12915641]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2003-030036]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Makras, P., Hamdy, N. A. T., Kant, S. G., Papapoulos, S. E.
|
|
<strong>Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.</strong>
|
|
J. Clin. Endocr. Metab. 93: 1386-1389, 2008.
|
|
|
|
|
|
[PubMed: 18252791]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2007-1296]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McNair, S. L., Stickler, G. B.
|
|
<strong>Growth in familial hypophosphatemic vitamin-D-resistant rickets.</strong>
|
|
New Eng. J. Med. 281: 511-516, 1969.
|
|
|
|
|
|
[PubMed: 5800510]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM196909042811001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moser, C. R., Fessel, W. J.
|
|
<strong>Rheumatic manifestations of hypophosphatemia.</strong>
|
|
Arch. Intern. Med. 134: 674-678, 1974.
|
|
|
|
|
|
[PubMed: 4370345]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nehgme, R., Fahey, J. T., Smith, C., Carpenter, T. O.
|
|
<strong>Cardiovascular abnormalities in patients with X-linked hypophosphatemia.</strong>
|
|
J. Clin. Endocr. Metab. 82: 2450-2454, 1997.
|
|
|
|
|
|
[PubMed: 9253316]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.82.8.4181]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Malley, S., Ramsden, R. T., Latif, A., Kane, R., Davies, M.
|
|
<strong>Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.</strong>
|
|
Acta Otolaryng. 100: 13-18, 1985.
|
|
|
|
|
|
[PubMed: 4040696]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/00016488509108581]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petersen, D. J., Boniface, A. M., Schranck, F. W., Rupich, R. C., Whyte, M. P.
|
|
<strong>X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy.</strong>
|
|
J. Bone Miner. Res. 7: 583-597, 1992.
|
|
|
|
|
|
[PubMed: 1414477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/jbmr.5650070602]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Polisson, R. P., Martinez, S., Khoury, M., Harrell, R. M., Lyles, K. W., Friedman, N., Harrelson, J. M., Reisner, E., Drezner, M. K.
|
|
<strong>Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.</strong>
|
|
New Eng. J. Med. 313: 1-6, 1985.
|
|
|
|
|
|
[PubMed: 4000222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198507043130101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Quarles, L. D., Drezner, M. K.
|
|
<strong>Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. (Editorial)</strong>
|
|
J. Clin. Endocr. Metab. 86: 494-496, 2001.
|
|
|
|
|
|
[PubMed: 11157997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.86.2.7302]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rasmussen, H., Pechet, M., Anast, C., Mazur, A., Gertner, J., Broadus, A. E.
|
|
<strong>Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1-alpha-hydroxyvitamin D(3).</strong>
|
|
J. Pediat. 99: 16-25, 1981.
|
|
|
|
|
|
[PubMed: 6265614]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(81)80951-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Read, A. P., Thakker, R. V., Davies, K. E., Mountford, R. C., Brenton, D. P., Davies, M., Glorieux, F., Harris, R., Hendy, G. N., King, A., McGlade, S., Peacock, C. J., Smith, R., O'Riordan, J. L. H.
|
|
<strong>Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.</strong>
|
|
Hum. Genet. 73: 267-270, 1986.
|
|
|
|
|
|
[PubMed: 3015770]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00401242]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rivkees, S. A., el-Hajj-Fuleihan, G., Brown, E. M., Crawford, J. D.
|
|
<strong>Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.</strong>
|
|
J. Clin. Endocr. Metab. 75: 1514-1518, 1992.
|
|
|
|
|
|
[PubMed: 1464657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.75.6.1464657]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rowe, P. S. N., Read, A. P., Mountford, R., Benham, F., Kruse, T. A., Camerino, G., Davies, K. E., O'Riordan, J. L. H.
|
|
<strong>Three DNA markers for hypophosphataemic rickets.</strong>
|
|
Hum. Genet. 89: 539-542, 1992.
|
|
|
|
|
|
[PubMed: 1353055]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00219180]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sabbagh, Y., Jones, A. O., Tenenhouse, H. S.
|
|
<strong>PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.</strong>
|
|
Hum. Mutat. 16: 1-6, 2000.
|
|
|
|
|
|
[PubMed: 10874297]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Savio, R. M., Gosnell, J. E., Posen, S., Reeve, T. S., Delbridge, L. W.
|
|
<strong>Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.</strong>
|
|
Arch. Surg. 139: 218-222, 2004.
|
|
|
|
|
|
[PubMed: 14769584]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archsurg.139.2.218]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scriver, C. R., Tenenhouse, H. S., Glorieux, F. H.
|
|
<strong>X-linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958.</strong>
|
|
Medicine 70: 218-228, 1991.
|
|
|
|
|
|
[PubMed: 1851532]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seikaly, M. G., Brown, R., Baum, M.
|
|
<strong>The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.</strong>
|
|
Pediatrics 100: 879-884, 1997.
|
|
|
|
|
|
[PubMed: 9346990]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1542/peds.100.5.879]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shields, E. D., Scriver, C. R., Reade, T., Fujiwara, T. M., Morgan, K., Ciampi, A., Schwartz, S.
|
|
<strong>X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.</strong>
|
|
Am. J. Hum. Genet. 46: 434-442, 1990.
|
|
|
|
|
|
[PubMed: 2155529]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Short, E. M., Binder, J. H., Rosenberg, L. E.
|
|
<strong>Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa.</strong>
|
|
Science 179: 700-702, 1973.
|
|
|
|
|
|
[PubMed: 4685042]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.179.4074.700]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Short, E. M., Sebastian, A., Spencer, M., Morris, R. C., Jr.
|
|
<strong>Hyperresponsiveness to the phosphaturic effect of parathyroid hormone in X-linked hypophosphatemic vitamin D-resistant rickets (FHR). (Abstract)</strong>
|
|
J. Clin. Invest. 53: 75A, 1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stickler, G. B., Morgenstern, B. Z.
|
|
<strong>Hypophosphataemic rickets: final height and clinical symptoms in adults.</strong>
|
|
Lancet 334: 902-905, 1989. Note: Originally Volume 2.
|
|
|
|
|
|
[PubMed: 2571821]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(89)91559-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stickler, G. B.
|
|
<strong>Familial hypophosphatemic vitamin D resistant rickets: the neonatal period and infancy.</strong>
|
|
Acta Paediat. Scand. 58: 213-219, 1969.
|
|
|
|
|
|
[PubMed: 5783409]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1969.tb04709.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tenenhouse, H. S., Scriver, C. R.
|
|
<strong>Orthophosphate transport in the erythrocyte of normal subjects and of patients with X-linked hypophosphatemia.</strong>
|
|
J. Clin. Invest. 55: 644-654, 1975.
|
|
|
|
|
|
[PubMed: 1117070]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI107972]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thakker, R. V., Davies, K. E., Read, A. P., Tippett, P., Wooding, C., Flint, T., Wood, S., Kruse, T. A., Whyte, M. P., O'Riordan, J. L. H.
|
|
<strong>Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families.</strong>
|
|
Genomics 8: 189-193, 1990.
|
|
|
|
|
|
[PubMed: 1979046]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90271-u]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thakker, R. V., Read, A. P., Davies, K. E., Whyte, M. P., Weksberg, R., Glorieux, F., Davies, M., Mountford, R. C., Harris, R., King, A., Kim, G. S., Fraser, D., Kooh, S. W., O'Riordan, J. L. H.
|
|
<strong>Bridging markers defining the map position of X linked hypophosphataemic rickets.</strong>
|
|
J. Med. Genet. 24: 756-760, 1987.
|
|
|
|
|
|
[PubMed: 2828625]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.24.12.756]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Verge, C. F., Lam, A., Simpson, J. M., Cowell, C. T., Howard, N. J., Silink, M.
|
|
<strong>Effects of therapy in X-linked hypophosphatemic rickets.</strong>
|
|
New Eng. J. Med. 325: 1843-1848, 1991.
|
|
|
|
|
|
[PubMed: 1660098]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199112263252604]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Winters, R. W., Graham, J. B., Williams, T. F., McFalls, V. W., Burnett, C. H.
|
|
<strong>A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature.</strong>
|
|
Medicine 37: 97-142, 1958.
|
|
|
|
|
|
[PubMed: 13565132]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00005792-195805000-00001]
|
|
|
|
|
|
</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">
|
|
Sonja A. Rasmussen - updated : 06/23/2023<br>Ada Hamosh - updated : 07/30/2019<br>Ada Hamosh - updated : 5/23/2011<br>Marla J. F. O'Neill - updated : 10/6/2010<br>Marla J. F. O'Neill - updated : 4/27/2010<br>Cassandra L. Kniffin - updated : 2/20/2006<br>Cassandra L. Kniffin - updated : 8/15/2005<br>John A. Phillips, III - updated : 11/4/2004<br>John A. Phillips, III - updated : 7/21/2004<br>Marla J. F. O'Neill - updated : 5/12/2004<br>Victor A. McKusick - updated : 12/8/2003<br>John A. Phillips, III - updated : 10/21/2003<br>George E. Tiller - updated : 12/19/2001<br>John A. Phillips, III - updated : 8/1/2001<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 9/8/1999<br>John A. Phillips, III - updated : 3/23/1999<br>Jennifer P. Macke - updated : 5/4/1998<br>John A. Phillips, III - updated : 11/8/1997<br>John A. Phillips, III - updated : 9/18/1997<br>Victor A. McKusick - updated : 6/12/1997<br>Victor A. McKusick - updated : 4/28/1997<br>Victor A. McKusick - updated : 2/25/1997<br>John A. Phillips, III - updated : 9/26/1996
|
|
</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 : 6/4/1986
|
|
</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 : 04/30/2024<br>carol : 06/23/2023<br>alopez : 07/30/2019<br>alopez : 07/30/2019<br>carol : 03/03/2017<br>alopez : 02/15/2017<br>alopez : 09/23/2016<br>carol : 07/23/2014<br>carol : 7/23/2014<br>alopez : 5/24/2011<br>terry : 5/23/2011<br>terry : 1/13/2011<br>wwang : 10/8/2010<br>terry : 10/6/2010<br>carol : 4/27/2010<br>terry : 4/13/2009<br>alopez : 1/14/2009<br>carol : 5/29/2008<br>carol : 3/28/2007<br>wwang : 3/1/2006<br>ckniffin : 2/20/2006<br>ckniffin : 9/7/2005<br>carol : 9/1/2005<br>ckniffin : 8/15/2005<br>alopez : 11/4/2004<br>alopez : 7/21/2004<br>carol : 5/12/2004<br>terry : 5/12/2004<br>carol : 3/17/2004<br>tkritzer : 12/9/2003<br>terry : 12/8/2003<br>alopez : 10/21/2003<br>cwells : 8/27/2003<br>cwells : 12/19/2001<br>mgross : 8/1/2001<br>carol : 8/7/2000<br>jlewis : 9/17/1999<br>jlewis : 9/16/1999<br>terry : 9/8/1999<br>terry : 6/9/1999<br>mgross : 3/24/1999<br>mgross : 3/23/1999<br>carol : 3/18/1999<br>carol : 7/17/1998<br>terry : 7/14/1998<br>alopez : 5/4/1998<br>joanna : 3/5/1998<br>dholmes : 2/10/1998<br>alopez : 12/10/1997<br>alopez : 12/4/1997<br>alopez : 12/3/1997<br>dholmes : 11/11/1997<br>dholmes : 11/11/1997<br>terry : 11/5/1997<br>dholmes : 10/24/1997<br>dholmes : 10/15/1997<br>mark : 7/16/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>alopez : 4/28/1997<br>alopez : 4/28/1997<br>terry : 4/24/1997<br>mark : 2/25/1997<br>terry : 2/24/1997<br>mark : 12/9/1996<br>terry : 11/26/1996<br>carol : 9/26/1996<br>mark : 9/12/1996<br>terry : 9/4/1996<br>mark : 2/16/1996<br>mark : 12/13/1995<br>mark : 10/10/1995<br>terry : 8/26/1994<br>pfoster : 5/12/1994<br>carol : 4/14/1994<br>mimadm : 2/27/1994<br>carol : 1/13/1993
|
|
</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 5, 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>
|
|
|
|
|