1168 lines
No EOL
151 KiB
XML
1168 lines
No EOL
151 KiB
XML
<?xml version="1.0" encoding="utf-8"?>
|
||
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
||
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
|
||
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
||
<!-- meta -->
|
||
<meta name="keywords" content="C0020438, elevated urine calcium levels, finding, hypercalcinuria, hypercalciuria, hypercalcuria, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Abnormally high level of calcium in the urine." /><meta name="robots" content="index,nofollow,noarchive" />
|
||
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="retrieve" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_uidlist" content="43775" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
|
||
|
||
|
||
<!-- title -->
|
||
<title>Hypercalciuria (Concept Id: C0020438)
|
||
- MedGen - NCBI</title>
|
||
|
||
<!-- Common JS and CSS -->
|
||
|
||
<script type="text/javascript">
|
||
var ncbi_startTime = new Date();
|
||
</script>
|
||
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
|
||
|
||
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
|
||
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8C02FC7D3882610000000000A90091.m_28" /><script type="text/javascript"><!--
|
||
var ScriptPath = '/portal/';
|
||
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
|
||
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
|
||
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
|
||
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
|
||
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
|
||
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
|
||
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
|
||
--></script>
|
||
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
|
||
|
||
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
|
||
|
||
|
||
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
|
||
</script></head>
|
||
<body>
|
||
<div class="grid">
|
||
<div class="col twelve_col nomargin shadow">
|
||
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
|
||
<div xmlns:xi="http://www.w3.org/2001/XInclude">
|
||
<!-- no javascript message -->
|
||
<noscript>
|
||
<p class="nojs">
|
||
<strong>Warning:</strong>
|
||
The NCBI web site requires JavaScript to function.
|
||
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
||
</p>
|
||
</noscript>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="usa-banner">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner-header">
|
||
<div class="usa-grid usa-banner-inner">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
|
||
<p>An official website of the United States government</p>
|
||
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
|
||
<span class="usa-banner-button-text">Here's how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
|
||
<div class="usa-banner-guidance-gov usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The .gov means it's official.</strong>
|
||
<br />
|
||
Federal government websites often end in .gov or .mil. Before
|
||
sharing sensitive information, make sure you're on a federal
|
||
government site.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner-guidance-ssl usa-width-one-half">
|
||
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
|
||
<div class="usa-media_block-body">
|
||
<p>
|
||
<strong>The site is secure.</strong>
|
||
<br />
|
||
The <strong>https://</strong> ensures that you are connecting to the
|
||
official website and that any information you provide is encrypted
|
||
and transmitted securely.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div class="usa-overlay"></div>
|
||
<header class="ncbi-header" role="banner" data-section="Header">
|
||
|
||
<div class="usa-grid">
|
||
<div class="usa-width-one-whole">
|
||
|
||
<div class="ncbi-header__logo">
|
||
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
|
||
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
|
||
</a>
|
||
</div>
|
||
|
||
<div class="ncbi-header__account">
|
||
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
|
||
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
|
||
<span class="fa fa-user" aria-hidden="true">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
|
||
<g style="fill: #fff">
|
||
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
|
||
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
|
||
</g>
|
||
</svg>
|
||
</span>
|
||
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
|
||
<span class="sr-only">Show account info</span>
|
||
</button>
|
||
</div>
|
||
|
||
<div class="ncbi-popup-anchor">
|
||
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
|
||
<div class="ncbi-popup-head">
|
||
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
|
||
<span class="fa fa-times">
|
||
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
|
||
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
|
||
</svg>
|
||
</span>
|
||
<span class="usa-sr-only">Close</span></button>
|
||
<h4>Account</h4>
|
||
</div>
|
||
<div class="account-user-info">
|
||
Logged in as:<br />
|
||
<b><span class="username" id="uname_long">username</span></b>
|
||
</div>
|
||
<div class="account-links">
|
||
<ul class="usa-unstyled-list">
|
||
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
|
||
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
|
||
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
|
||
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<div role="navigation" aria-label="access keys">
|
||
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
|
||
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
|
||
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
|
||
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
|
||
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
|
||
</div>
|
||
<section data-section="Alerts">
|
||
<div class="ncbi-alerts-placeholder"></div>
|
||
</section>
|
||
</div>
|
||
|
||
<div class="header">
|
||
<!-- logo -->
|
||
<div class="res_logo" id="gene-top">
|
||
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
|
||
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
|
||
</div>
|
||
<!-- SearchBar -->
|
||
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books">Books</option><option value="gene">Gene</option><option value="medgen" selected="selected" class="last" data-ac_dict="medgen_disease_name">MedGen</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
|
||
<div id="maincontent" class="col nine_col">
|
||
<div class="content">
|
||
<div>
|
||
|
||
|
||
</div>
|
||
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
|
||
var selectedValue = jQuery(this).val().toLowerCase();
|
||
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
|
||
|
||
if(selectedDiv.is(":hidden")){
|
||
jQuery("#send_to_menu div.submenu:visible").slideUp();
|
||
selectedDiv.slideDown();
|
||
}
|
||
});
|
||
|
||
});
|
||
|
||
jQuery("#sendto").bind("ncbipopperclose", function(){
|
||
jQuery("#send_to_menu div.submenu:visible").css("display","none");
|
||
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
|
||
});
|
||
|
||
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
|
||
|
||
</div>
|
||
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=43775
|
||
ConceptID=C0020438
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypercalciuria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43775</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Elevated urine calcium levels; Hypercalcinuria; Hypercalcuria</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypercalciuria (71938000); Hypercalcuria (71938000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002150">HP:0002150</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Abnormally high level of calcium in the urine. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0020438[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=43775">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=43775" ref="ncbi_uid=43775">V</a></span></span><span class="TLline">Hypercalciuria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868439" ref="tree=MeSH" title="MedGen record for Abnormal urinary electrolyte concentration">Abnormal urinary electrolyte concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869017" ref="tree=MeSH" title="MedGen record for Abnormality of urine calcium concentration">Abnormality of urine calcium concentration</a></span><ul><li><span class="matched_ds">Hypercalciuria</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_41393"><div><strong>Cystic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0010674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_59799"><div><strong>Williams syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59799</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/59799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75677"><div><strong>Infantile hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75677</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75677">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75678"><div><strong>Hyperphosphatasemia with bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75678</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82804"><div><strong>Proximal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82804</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82804">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120640"><div><strong>Primary hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120640">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87438"><div><strong>Autosomal dominant hypocalcemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant hypocalcemia-1 (HYPOC1) is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. Genetic Heterogeneity of Autosomal Dominant Hypocalcemia Autosomal dominant hypocalcemia-2 (HYPOC2; 615361) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_137973"><div><strong>Familial hypocalciuric hypercalcemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137973</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; 168450) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010). Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). Genetic Heterogeneity of Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia type II (HHC2; 145981) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13, and HHC3 (600740) is caused by mutation in the AP2S1 gene (602242) on chromosome 19q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_137974"><div><strong>Familial idiopathic hypercalciuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137974</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137974">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87459"><div><strong>Pearson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87459</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87459">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96047"><div><strong>X-linked recessive nephrolithiasis with renal failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0403720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96047">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331326"><div><strong>Neonatal severe primary hyperparathyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331326</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331326">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333426"><div><strong>Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336867"><div><strong>Dent disease type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335115"><div><strong>Hypophosphatemic rickets, X-linked recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335115</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337364"><div><strong>IMAGe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities (in males). Findings reported in individuals with a clinical and/or molecular diagnosis include: IUGR; Some type of skeletal abnormality (most commonly delayed bone age and short stature, and occasionally, metaphyseal and epiphyseal dysplasia of varying severity); Adrenal insufficiency often presenting in the first month of life as an adrenal crisis or (rarely) later in childhood with failure to thrive and recurrent vomiting; Genital abnormalities in males (cryptorchidism, micropenis, and hypospadias) but not in females. Hypotonia and developmental delay are reported in some individuals; cognitive outcome appears to be normal in the majority of individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336322"><div><strong>Dent disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501133"><div><strong>Autosomal recessive hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501133">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343419"><div><strong>Hypouricemia, hypercalcinuria, and decreased bone density</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343419</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855793</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343428"><div><strong>Bartter disease type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344611"><div><strong>Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344611</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355727"><div><strong>Bartter disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355727</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355727">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436776"><div><strong>Hypophosphatemic nephrolithiasis/osteoporosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436776</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436776">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2697310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462002"><div><strong>Fanconi renotubular syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462002</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815686"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815686">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_824604"><div><strong>Familial hyperaldosteronism type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>824604</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3838758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperaldosteronism type III (HALD3) is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or HALD1; 103900), patients with HALD3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in HALD3 are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/824604">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934200"><div><strong>Hypercalcemia, infantile, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934200</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). Genetic Heterogeneity Infantile hypercalcemia-2 (HCINF2; 616963) is caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934441"><div><strong>Hypercalcemia, infantile, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934441</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934777"><div><strong>Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934777</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934787"><div><strong>Bartter disease type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934787</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934787">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640532"><div><strong>Tumoral calcinosis, hyperphosphatemic, familial, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648449"><div><strong>Renal hypomagnesemia 5 with ocular involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648449</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. Some patients also have severe visual impairment. Amelogenesis imperfecta has been reported in some patients (summary by Konrad et al., 2006 and Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674537"><div><strong>Oculocerebrodental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674537</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674537">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1732975"><div><strong>Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1732975</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5399980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1732975">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant hypocalcemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive hypophosphatemic bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 5</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (38)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic fibrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_824604" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hyperaldosteronism type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypocalciuric hypercalcemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial idiopathic hypercalciuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalcemia, infantile, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercalcemia, infantile, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasemia with bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436776" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic nephrolithiasis/osteoporosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, X-linked recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypouricemia, hypercalcinuria, and decreased bone density</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">IMAGe syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75677" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile hypophosphatasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331326" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal severe primary hyperparathyroidism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674537" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrodental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pearson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypomagnesemia 5 with ocular involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1732975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tumoral calcinosis, hyperphosphatemic, familial, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Williams syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive nephrolithiasis with renal failure</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38155376">Urolithiasis: History, epidemiology, aetiologic factors and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kachkoul R,
|
||
Touimi GB,
|
||
El Mouhri G,
|
||
El Habbani R,
|
||
Mohim M,
|
||
Lahrichi A</span><br />
|
||
<span class="medgenPMjournal">Malays J Pathol</span>
|
||
2023 Dec;45(3):333-352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38155376" target="_blank">38155376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28216084">Vitamin D supplementation guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pludowski P,
|
||
Holick MF,
|
||
Grant WB,
|
||
Konstantynowicz J,
|
||
Mascarenhas MR,
|
||
Haq A,
|
||
Povoroznyuk V,
|
||
Balatska N,
|
||
Barbosa AP,
|
||
Karonova T,
|
||
Rudenka E,
|
||
Misiorowski W,
|
||
Zakharova I,
|
||
Rudenka A,
|
||
Łukaszkiewicz J,
|
||
Marcinowska-Suchowierska E,
|
||
Łaszcz N,
|
||
Abramowicz P,
|
||
Bhattoa HP,
|
||
Wimalawansa SJ</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2018 Jan;175:125-135.
|
||
Epub 2017 Feb 12
|
||
doi: 10.1016/j.jsbmb.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28216084" target="_blank">28216084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27588937">Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ,
|
||
Singh RJ,
|
||
Kumar R</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2016 Oct;37(5):521-547.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1210/er.2016-1070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27588937" target="_blank">27588937</a><a href="/pmc/articles/PMC5045493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypercalciuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (206)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36880927">Diagnosis and Management of Nephrolithiasis in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacevic L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2022 Dec;69(6):1149-1164.
|
||
Epub 2022 Oct 29
|
||
doi: 10.1016/j.pcl.2022.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36880927" target="_blank">36880927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34699268">Mechanisms Underlying Calcium Nephrolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
|
||
Fuster DG,
|
||
Dimke H</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Physiol</span>
|
||
2022 Feb 10;84:559-583.
|
||
Epub 2021 Oct 26
|
||
doi: 10.1146/annurev-physiol-052521-121822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34699268" target="_blank">34699268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27452364">Idiopathic hypercalciuria and formation of calcium renal stones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coe FL,
|
||
Worcester EM,
|
||
Evan AP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2016 Sep;12(9):519-33.
|
||
Epub 2016 Jul 25
|
||
doi: 10.1038/nrneph.2016.101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27452364" target="_blank">27452364</a><a href="/pmc/articles/PMC5837277" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17726353">Metaphylaxis of nephrolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobellis U</span><br />
|
||
<span class="medgenPMjournal">Urol Int</span>
|
||
2007;79 Suppl 1:51-5.
|
||
doi: 10.1159/000104442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17726353" target="_blank">17726353</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15133327">Osteoporosis and urolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caudarella R,
|
||
Vescini F,
|
||
Buffa A,
|
||
La Manna G,
|
||
Stefoni S</span><br />
|
||
<span class="medgenPMjournal">Urol Int</span>
|
||
2004;72 Suppl 1:17-9.
|
||
doi: 10.1159/000076585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15133327" target="_blank">15133327</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1489)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36880927">Diagnosis and Management of Nephrolithiasis in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacevic L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2022 Dec;69(6):1149-1164.
|
||
Epub 2022 Oct 29
|
||
doi: 10.1016/j.pcl.2022.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36880927" target="_blank">36880927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454740">Approach to the Child with Hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DD,
|
||
Reidy KJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):15-30.
|
||
doi: 10.1016/j.pcl.2018.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454740" target="_blank">30454740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405941">Renal impairment in hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacchetta J</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5S2):5S93-5S95.
|
||
doi: 10.1016/S0929-693X(18)30023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405941" target="_blank">29405941</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27588937">Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ,
|
||
Singh RJ,
|
||
Kumar R</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2016 Oct;37(5):521-547.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1210/er.2016-1070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27588937" target="_blank">27588937</a><a href="/pmc/articles/PMC5045493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12474642">Childhood stones.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stapleton FB</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2002 Dec;31(4):1001-15, ix.
|
||
doi: 10.1016/s0889-8529(02)00036-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12474642" target="_blank">12474642</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1121)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745886">Vitamin D and Risk for Type 2 Diabetes in People With Prediabetes : A Systematic Review and Meta-analysis of Individual Participant Data From 3 Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pittas AG,
|
||
Kawahara T,
|
||
Jorde R,
|
||
Dawson-Hughes B,
|
||
Vickery EM,
|
||
Angellotti E,
|
||
Nelson J,
|
||
Trikalinos TA,
|
||
Balk EM</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2023 Mar;176(3):355-363.
|
||
Epub 2023 Feb 7
|
||
doi: 10.7326/M22-3018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745886" target="_blank">36745886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36744416">Vitamin D for the management of asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson A,
|
||
Martineau AR,
|
||
Sheikh A,
|
||
Jolliffe D,
|
||
Griffiths CJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Feb 6;2(2):CD011511.
|
||
doi: 10.1002/14651858.CD011511.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36744416" target="_blank">36744416</a><a href="/pmc/articles/PMC9899558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30443043">The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannan FM,
|
||
Kallay E,
|
||
Chang W,
|
||
Brandi ML,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Dec;15(1):33-51.
|
||
doi: 10.1038/s41574-018-0115-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30443043" target="_blank">30443043</a><a href="/pmc/articles/PMC6535143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28216084">Vitamin D supplementation guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pludowski P,
|
||
Holick MF,
|
||
Grant WB,
|
||
Konstantynowicz J,
|
||
Mascarenhas MR,
|
||
Haq A,
|
||
Povoroznyuk V,
|
||
Balatska N,
|
||
Barbosa AP,
|
||
Karonova T,
|
||
Rudenka E,
|
||
Misiorowski W,
|
||
Zakharova I,
|
||
Rudenka A,
|
||
Łukaszkiewicz J,
|
||
Marcinowska-Suchowierska E,
|
||
Łaszcz N,
|
||
Abramowicz P,
|
||
Bhattoa HP,
|
||
Wimalawansa SJ</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2018 Jan;175:125-135.
|
||
Epub 2017 Feb 12
|
||
doi: 10.1016/j.jsbmb.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28216084" target="_blank">28216084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27219040">Mechanisms and causes of hypomagnesemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agus ZS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2016 Jul;25(4):301-7.
|
||
doi: 10.1097/MNH.0000000000000238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27219040" target="_blank">27219040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1192)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36744416">Vitamin D for the management of asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson A,
|
||
Martineau AR,
|
||
Sheikh A,
|
||
Jolliffe D,
|
||
Griffiths CJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Feb 6;2(2):CD011511.
|
||
doi: 10.1002/14651858.CD011511.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36744416" target="_blank">36744416</a><a href="/pmc/articles/PMC9899558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454740">Approach to the Child with Hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DD,
|
||
Reidy KJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):15-30.
|
||
doi: 10.1016/j.pcl.2018.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454740" target="_blank">30454740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30300686">Genetic hypercalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cormier C</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2019 Jul;86(4):459-466.
|
||
Epub 2018 Oct 6
|
||
doi: 10.1016/j.jbspin.2018.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30300686" target="_blank">30300686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30443043">The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannan FM,
|
||
Kallay E,
|
||
Chang W,
|
||
Brandi ML,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Dec;15(1):33-51.
|
||
doi: 10.1038/s41574-018-0115-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30443043" target="_blank">30443043</a><a href="/pmc/articles/PMC6535143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17726353">Metaphylaxis of nephrolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobellis U</span><br />
|
||
<span class="medgenPMjournal">Urol Int</span>
|
||
2007;79 Suppl 1:51-5.
|
||
doi: 10.1159/000104442.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17726353" target="_blank">17726353</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (501)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39182194">miR-148b-5p regulates hypercalciuria and calcium-containing nephrolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu W,
|
||
Zhou Z,
|
||
Wu C,
|
||
Huang Z,
|
||
Zhao R,
|
||
Wang X,
|
||
Luo L,
|
||
Liu Y,
|
||
Zhong W,
|
||
Zhao Z,
|
||
Ai G,
|
||
Zhong J,
|
||
Liu S,
|
||
Liu W,
|
||
Pang X,
|
||
Sun Y,
|
||
Zeng G</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2024 Aug 25;81(1):369.
|
||
doi: 10.1007/s00018-024-05408-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39182194" target="_blank">39182194</a><a href="/pmc/articles/PMC11345353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36744416">Vitamin D for the management of asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson A,
|
||
Martineau AR,
|
||
Sheikh A,
|
||
Jolliffe D,
|
||
Griffiths CJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Feb 6;2(2):CD011511.
|
||
doi: 10.1002/14651858.CD011511.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36744416" target="_blank">36744416</a><a href="/pmc/articles/PMC9899558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29368300">Hyperuricosuric calcium urolithiasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moe OW,
|
||
Xu LHR</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2018 Apr;31(2):189-196.
|
||
Epub 2018 Jan 24
|
||
doi: 10.1007/s40620-018-0469-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29368300" target="_blank">29368300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28216084">Vitamin D supplementation guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pludowski P,
|
||
Holick MF,
|
||
Grant WB,
|
||
Konstantynowicz J,
|
||
Mascarenhas MR,
|
||
Haq A,
|
||
Povoroznyuk V,
|
||
Balatska N,
|
||
Barbosa AP,
|
||
Karonova T,
|
||
Rudenka E,
|
||
Misiorowski W,
|
||
Zakharova I,
|
||
Rudenka A,
|
||
Łukaszkiewicz J,
|
||
Marcinowska-Suchowierska E,
|
||
Łaszcz N,
|
||
Abramowicz P,
|
||
Bhattoa HP,
|
||
Wimalawansa SJ</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2018 Jan;175:125-135.
|
||
Epub 2017 Feb 12
|
||
doi: 10.1016/j.jsbmb.2017.01.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28216084" target="_blank">28216084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405941">Renal impairment in hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacchetta J</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2017 May;24(5S2):5S93-5S95.
|
||
doi: 10.1016/S0929-693X(18)30023-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405941" target="_blank">29405941</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (784)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39077939">Vitamin D supplementation for women during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palacios C,
|
||
Kostiuk LL,
|
||
Cuthbert A,
|
||
Weeks J</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2024 Jul 30;7(7):CD008873.
|
||
doi: 10.1002/14651858.CD008873.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39077939" target="_blank">39077939</a><a href="/pmc/articles/PMC11287789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36745886">Vitamin D and Risk for Type 2 Diabetes in People With Prediabetes : A Systematic Review and Meta-analysis of Individual Participant Data From 3 Randomized Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pittas AG,
|
||
Kawahara T,
|
||
Jorde R,
|
||
Dawson-Hughes B,
|
||
Vickery EM,
|
||
Angellotti E,
|
||
Nelson J,
|
||
Trikalinos TA,
|
||
Balk EM</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2023 Mar;176(3):355-363.
|
||
Epub 2023 Feb 7
|
||
doi: 10.7326/M22-3018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36745886" target="_blank">36745886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36744416">Vitamin D for the management of asthma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson A,
|
||
Martineau AR,
|
||
Sheikh A,
|
||
Jolliffe D,
|
||
Griffiths CJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Feb 6;2(2):CD011511.
|
||
doi: 10.1002/14651858.CD011511.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36744416" target="_blank">36744416</a><a href="/pmc/articles/PMC9899558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31348529">Vitamin D supplementation for women during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palacios C,
|
||
Kostiuk LK,
|
||
Peña-Rosas JP</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Jul 26;7(7):CD008873.
|
||
doi: 10.1002/14651858.CD008873.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31348529" target="_blank">31348529</a><a href="/pmc/articles/PMC6659840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18088161">Effectiveness and safety of vitamin D in relation to bone health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cranney A,
|
||
Horsley T,
|
||
O'Donnell S,
|
||
Weiler H,
|
||
Puil L,
|
||
Ooi D,
|
||
Atkinson S,
|
||
Ward L,
|
||
Moher D,
|
||
Hanley D,
|
||
Fang M,
|
||
Yazdi F,
|
||
Garritty C,
|
||
Sampson M,
|
||
Barrowman N,
|
||
Tsertsvadze A,
|
||
Mamaladze V</span><br />
|
||
<span class="medgenPMjournal">Evid Rep Technol Assess (Full Rep)</span>
|
||
2007 Aug;(158):1-235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18088161" target="_blank">18088161</a><a href="/pmc/articles/PMC4781354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypercalciuria%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0020438%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0020438%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0020438%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hypercalciuria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypercalciuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypercalciuria%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypercalciuria" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hypercalciuria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hypercalciuria%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=43775" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0020438[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0020438[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=43775" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=43775" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=43775" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d393d684f3725e59acd76c">Hypercalciuria</a>
|
||
<div class="ralinkpop offscreen_noflow">Hypercalciuria<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d393bdcde49f3df743d75a">Cystic Fibrosis - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Cystic Fibrosis - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d393bccde49f3df743d00f">Table B. [OMIM Entries for Cystic Fibrosis (View All in OMIM)]. - GeneReviews®</a>
|
||
<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Cystic Fibrosis (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary"></div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d393b584f3725e59abfc10">RecName: Full=Cystic fibrosis transmembrane conductance regulator; Short=CFTR; A...</a>
|
||
<div class="ralinkpop offscreen_noflow">RecName: Full=Cystic fibrosis transmembrane conductance regulator; Short=CFTR; AltName: Full=ATP-binding cassette sub-family C member 7; AltName: Full=Channel conductance-controlling ATPase; AltName: Full=cAMP-dependent chloride channel<div class="brieflinkpopdesc">gi|147744553|sp|P13569.3|CFTR_HUMAN</div></div>
|
||
<div class="tertiary">Protein</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3939984f3725e59ab2f3b">related_functional_gene_1080[group] AND (alive[prop]) <span class="number">(3)</span></a>
|
||
<div class="tertiary">Gene</div>
|
||
</li>
|
||
</ul>
|
||
<p class="HTOn">Your browsing activity is empty.</p>
|
||
<p class="HTOff">Activity recording is turned off.</p>
|
||
<p id="turnOn" class="HTOff">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
|
||
</p>
|
||
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="NCBIFooter_dynamic">
|
||
<!--<component id="NCBIBreadcrumbs"/>
|
||
<component id="NCBIHelpDesk"/>-->
|
||
<noscript><img alt="" src="/stat?jsdisabled=true&ncbi_app=entrez&ncbi_db=medgen&ncbi_pdid=FullReport&ncbi_phid=CE8C02FC7D3882610000000000A90091" /></noscript>
|
||
</div>
|
||
|
||
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
|
||
<section class="icon-section">
|
||
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
|
||
<div class="grid-container container">
|
||
<div class="icon-section_container">
|
||
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1008">
|
||
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
|
||
</g>
|
||
</svg>
|
||
</a>
|
||
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>Facebook</title>
|
||
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<title>LinkedIn</title>
|
||
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
|
||
</path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
|
||
<defs>
|
||
<style>
|
||
.cls-11,
|
||
.cls-12 {
|
||
fill: #737373;
|
||
}
|
||
|
||
.cls-11 {
|
||
fill-rule: evenodd;
|
||
}
|
||
</style>
|
||
</defs>
|
||
<title>GitHub</title>
|
||
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
|
||
</path>
|
||
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
|
||
</path>
|
||
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
|
||
</path>
|
||
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
|
||
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
|
||
</path>
|
||
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
|
||
</svg></a>
|
||
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
|
||
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
|
||
<defs><style>.cls-1{fill:#737373;}</style></defs>
|
||
<title>NCBI Insights Blog</title>
|
||
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
|
||
</svg>
|
||
</a>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
<section class="container-fluid bg-primary">
|
||
<div class="container pt-5">
|
||
<div class="row mt-3">
|
||
<div class="col-lg-3 col-12">
|
||
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
|
||
<ul class="list-inline social_media">
|
||
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Twitter</title>
|
||
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
|
||
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_65276_3946">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Facebook</title>
|
||
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
|
||
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
|
||
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1086">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
|
||
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
|
||
<title>Youtube</title>
|
||
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
|
||
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
|
||
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
|
||
</g>
|
||
<defs>
|
||
<clipPath id="clip0_1717_1101">
|
||
<rect width="35" height="35" fill="white"></rect>
|
||
</clipPath>
|
||
</defs>
|
||
</svg>
|
||
</a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="col-lg-3 col-12">
|
||
<p class="address_footer text-white">National Library of Medicine<br />
|
||
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
|
||
Bethesda, MD 20894</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
||
</div>
|
||
</div>
|
||
<div class="row">
|
||
<div class="col-lg-12 centered-lg">
|
||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
|
||
</div>
|
||
|
||
</div>
|
||
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="12721" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
|
||
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal105 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
||
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
||
|
||
|
||
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
|
||
</html> |