publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/medgen/463618

1752 lines
No EOL
159 KiB
XML
Raw Blame History

This file contains invisible Unicode characters

This file contains invisible Unicode characters that are indistinguishable to humans but may be processed differently by a computer. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

This file contains Unicode characters that might be confused with other characters. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<?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="C3160718, adh1c, atxn2, atxn3, atxn8os, autosomal dominant late-onset parkinson disease, disease or syndrome, gba1, hereditary late onset parkinson disease, hereditary late-onset parkinson disease, late onset parkinson disease, late onset parkinson's disease, late-onset parkinson disease, lopd, mapt, mt-tt, nr4a2, park, parkinson disease, age of onset, modifier, multifactorial, parkinson disease, late-onset, parkinson disease, late-onset, susceptibility to, parkinson disease, late-onset, susceptibility to, multifactorial, parkinson disease, susceptibility to, parkinson disease, susceptibility to, multifactorial, parkinson's disease, pd, sncaip, susceptibility to parkinson's disease, tbp, 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="Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia." /><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="463618" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
<!-- title -->
<title>Parkinson disease, late-onset (Concept Id: C3160718)
- 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="CE8E127F7D4E387100000000011700EF.m_31" /><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="books">Books</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="gene" class="last">Gene</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=463618
ConceptID=C3160718
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Parkinson disease, late-onset<span class="h1sub">(PD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463618</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)&#10;Click for more information.">C3160718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Hereditary late onset Parkinson disease; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Parkinson disease, susceptibility to; Parkinson's disease; PD; Susceptibility to Parkinson's Disease</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="ADH1C - ID: 126 - NCBI Gene" href="/gene/126" class="medgenPMinfo">ADH1C</a> (4q23); <a target="_blank" title="ATXN2 - ID: 6311 - NCBI Gene" href="/gene/6311" class="medgenPMinfo">ATXN2</a> (12q24.12); <a target="_blank" title="ATXN3 - ID: 4287 - NCBI Gene" href="/gene/4287" class="medgenPMinfo">ATXN3</a> (14q32.12); <a target="_blank" title="ATXN8OS - ID: 6315 - NCBI Gene" href="/gene/6315" class="medgenPMinfo">ATXN8OS</a> (13q21.33); <a target="_blank" title="GBA1 - ID: 2629 - NCBI Gene" href="/gene/2629" class="medgenPMinfo">GBA1</a> (1q22); <a target="_blank" title="MAPT - ID: 4137 - NCBI Gene" href="/gene/4137" class="medgenPMinfo">MAPT</a> (17q21.31); <a target="_blank" title="MT-TT - ID: 4576 - NCBI Gene" href="/gene/4576" class="medgenPMinfo">MT-TT</a>; <a target="_blank" title="NR4A2 - ID: 4929 - NCBI Gene" href="/gene/4929" class="medgenPMinfo">NR4A2</a> (2q24.1); <a target="_blank" title="SNCAIP - ID: 9627 - NCBI Gene" href="/gene/9627" class="medgenPMinfo">SNCAIP</a> (5q23.2); <a target="_blank" title="TBP - ID: 6908 - NCBI Gene" href="/gene/6908" class="medgenPMinfo">TBP</a> (6q27)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008199" target="_blank">MONDO:0008199</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/168600" target="_blank">168600</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=411602">ORPHA411602</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">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.<br /><br />Often the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.<br /><br />Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.<br /><br />Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/parkinsons-disease">https://medlineplus.gov/genetics/condition/parkinsons-disease</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_39315"><div><strong>Urinary urgency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39315</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)&#10;Click for more information.">C0085606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Urge incontinence is the strong, sudden need to urinate.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39315">Feature record</a> | <a href="/medgen?term=%22Urinary%20urgency%22%5BClinical%20Features%5D%20OR%2039315%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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)&#10;Click for more information.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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)&#10;Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty in swallowing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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)&#10;Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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)&#10;Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8511"><div><strong>Abnormal autonomic nervous system physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8511</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)&#10;Click for more information.">C0013363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A functional abnormality of the autonomic nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8511">Feature record</a> | <a href="/medgen?term=%22Abnormal%20autonomic%20nervous%20system%20physiology%22%5BClinical%20Features%5D%20OR%208511%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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)&#10;Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6709"><div><strong>Hallucinations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6709</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)&#10;Click for more information.">C0018524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6709">Feature record</a> | <a href="/medgen?term=%22Hallucinations%22%5BClinical%20Features%5D%20OR%206709%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_52372"><div><strong>Sleep abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52372</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)&#10;Click for more information.">C0037317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal pattern in the quality, quantity, or characteristics of sleep.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52372">Feature record</a> | <a href="/medgen?term=%22Sleep%20abnormality%22%5BClinical%20Features%5D%20OR%2052372%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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)&#10;Click for more information.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43126"><div><strong>Lewy bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43126</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)&#10;Click for more information.">C0085200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell Component</dd></dl></div></div></div>
<div class="spaceAbove">Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Lewy%20bodies%22%5BClinical%20Features%5D%20OR%2043126%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</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)&#10;Click for more information.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66697"><div><strong>Resting tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66697</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)&#10;Click for more information.">C0234379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66697">Feature record</a> | <a href="/medgen?term=%22Resting%20tremor%22%5BClinical%20Features%5D%20OR%2066697%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66806"><div><strong>Micrographia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66806</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)&#10;Click for more information.">C0240341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66806">Feature record</a> | <a href="/medgen?term=%22Micrographia%22%5BClinical%20Features%5D%20OR%2066806%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66817"><div><strong>Personality changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66817</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)&#10;Click for more information.">C0240735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal shift in patterns of thinking, acting, or feeling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66817">Feature record</a> | <a href="/medgen?term=%22Personality%20changes%22%5BClinical%20Features%5D%20OR%2066817%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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)&#10;Click for more information.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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)&#10;Click for more information.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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)&#10;Click for more information.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_337668"><div><strong>Substantia nigra gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337668</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)&#10;Click for more information.">C1846865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Focal proliferation of glial cells in the substantia nigra.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337668">Feature record</a> | <a href="/medgen?term=%22Substantia%20nigra%20gliosis%22%5BClinical%20Features%5D%20OR%20337668%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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)&#10;Click for more information.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812045"><div><strong>Short stepped shuffling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812045</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)&#10;Click for more information.">C3805715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812045">Feature record</a> | <a href="/medgen?term=%22Short%20stepped%20shuffling%20gait%22%5BClinical%20Features%5D%20OR%20812045%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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)&#10;Click for more information.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66033"><div><strong>Weak voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66033</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)&#10;Click for more information.">C0241700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced intensity (volume) of speech.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66033">Feature record</a> | <a href="/medgen?term=%22Weak%20voice%22%5BClinical%20Features%5D%20OR%2066033%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140860"><div><strong>Mask-like facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140860</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)&#10;Click for more information.">C0424448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A lack of facial expression often with staring eyes and a slightly open mouth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140860">Feature record</a> | <a href="/medgen?term=%22Mask-like%20facies%22%5BClinical%20Features%5D%20OR%20140860%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mask-like facies</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary urgency</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal autonomic nervous system physiology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallucinations</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lewy bodies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrographia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Personality changes</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Resting tremor</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stepped shuffling gait</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep abnormality</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Substantia nigra gliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weak voice</a></span></li></ul></li></ul></div></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0030567[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=10590">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10590" target="_blank" href="/omim/516000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=10590">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=10590" ref="ncbi_uid=10590">V</a></span></span><span class="TLline"><a href="/medgen/10590" ref="tree=GTR&amp;ncbi_uid=10590&amp;link_uid=10590" title="View MedGen record for 'Parkinson disease'">Parkinson disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868595[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=357008">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357008" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=357008">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=357008" ref="ncbi_uid=357008">V</a></span></span><span class="TLline"><a href="/medgen/357008" ref="tree=GTR&amp;ncbi_uid=357008&amp;link_uid=357008" title="View MedGen record for 'Autosomal dominant Parkinson disease 1'">Autosomal dominant Parkinson disease 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1854182[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=381361">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381361" target="_blank" href="/omim/163890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=381361">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=381361" ref="ncbi_uid=381361">V</a></span></span><span class="TLline"><a href="/medgen/381361" ref="tree=GTR&amp;ncbi_uid=381361&amp;link_uid=381361" title="View MedGen record for 'Autosomal dominant Parkinson disease 4'">Autosomal dominant Parkinson disease 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846862[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=339628">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339628" target="_blank" href="/omim/607060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1208%20OR%20NBK1223)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=339628">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=339628" ref="ncbi_uid=339628">V</a></span></span><span class="TLline"><a href="/medgen/339628" ref="tree=GTR&amp;ncbi_uid=339628&amp;link_uid=339628" title="View MedGen record for 'Autosomal dominant Parkinson disease 8'">Autosomal dominant Parkinson disease 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853833[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=342982">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342982" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK26472)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=342982">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=342982" ref="ncbi_uid=342982">V</a></span></span><span class="TLline"><a href="/medgen/342982" ref="tree=GTR&amp;ncbi_uid=342982&amp;link_uid=342982" title="View MedGen record for 'Autosomal recessive early-onset Parkinson disease 6'">Autosomal recessive early-onset Parkinson disease 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853445[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=344049">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344049" target="_blank" href="/omim/602533">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=344049">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=344049" ref="ncbi_uid=344049">V</a></span></span><span class="TLline"><a href="/medgen/344049" ref="tree=GTR&amp;ncbi_uid=344049&amp;link_uid=344049" title="View MedGen record for 'Autosomal recessive early-onset Parkinson disease 7'">Autosomal recessive early-onset Parkinson disease 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868675[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=401500">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=401500" target="_blank" href="/omim/600116">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1478)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=401500">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=401500" ref="ncbi_uid=401500">V</a></span></span><span class="TLline"><a href="/medgen/401500" ref="tree=GTR&amp;ncbi_uid=401500&amp;link_uid=401500" title="View MedGen record for 'Autosomal recessive juvenile Parkinson disease 2'">Autosomal recessive juvenile Parkinson disease 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751842[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=414488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414488" target="_blank" href="/omim/612953">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=414488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=414488" ref="ncbi_uid=414488">V</a></span></span><span class="TLline"><a href="/medgen/414488" ref="tree=GTR&amp;ncbi_uid=414488&amp;link_uid=414488" title="View MedGen record for 'Autosomal recessive Parkinson disease 14'">Autosomal recessive Parkinson disease 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66768" target="_blank" href="/omim/168100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=66768">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/66768" ref="tree=GTR&amp;ncbi_uid=66768&amp;link_uid=66768" title="View MedGen record for 'Juvenile paralysis agitans of Hunt'">Juvenile paralysis agitans of Hunt</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847640[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=338281">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338281" target="_blank" href="/omim/606693">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK121988)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=338281">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=338281" ref="ncbi_uid=338281">V</a></span></span><span class="TLline"><a href="/medgen/338281" ref="tree=GTR&amp;ncbi_uid=338281&amp;link_uid=338281" title="View MedGen record for 'Kufor-Rakeb syndrome'">Kufor-Rakeb syndrome</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/830971" ref="tree=GTR&amp;ncbi_uid=830971&amp;link_uid=830971" title="View MedGen record for 'Parkinsonism due to ATP13A2 deficiency'">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409973" target="_blank" href="/omim/605909">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=409973">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=409973" ref="ncbi_uid=409973">V</a></span></span><span class="TLline"><a href="/medgen/409973" ref="tree=GTR&amp;ncbi_uid=409973&amp;link_uid=409973" title="View MedGen record for 'Parkinson disease 6'">Parkinson disease 6</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=1684827">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1684827" ref="ncbi_uid=1684827">V</a></span></span><span class="TLline"><a href="/medgen/1684827" ref="tree=GTR&amp;ncbi_uid=1684827&amp;link_uid=1684827" title="View MedGen record for 'Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1'">Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339741" target="_blank" href="/omim/606852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=339741">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339741" ref="tree=GTR&amp;ncbi_uid=339741&amp;link_uid=339741" title="View MedGen record for 'Parkinson disease 10'">Parkinson disease 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4083045[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=896658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896658" target="_blank" href="/omim/607688">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=896658">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=896658" ref="ncbi_uid=896658">V</a></span></span><span class="TLline"><a href="/medgen/896658" ref="tree=GTR&amp;ncbi_uid=896658&amp;link_uid=896658" title="View MedGen record for 'Parkinson disease 11, autosomal dominant, susceptibility to'">Parkinson disease 11, autosomal dominant, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337173" target="_blank" href="/omim/300557">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337173">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=337173" ref="ncbi_uid=337173">V</a></span></span><span class="TLline"><a href="/medgen/337173" ref="tree=GTR&amp;ncbi_uid=337173&amp;link_uid=337173" title="View MedGen record for 'Parkinson disease 12'">Parkinson disease 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853202[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=343992">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343992" target="_blank" href="/omim/606441">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=343992">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=343992" ref="ncbi_uid=343992">V</a></span></span><span class="TLline"><a href="/medgen/343992" ref="tree=GTR&amp;ncbi_uid=343992&amp;link_uid=343992" title="View MedGen record for 'Parkinson disease 13, autosomal dominant, susceptibility to'">Parkinson disease 13, autosomal dominant, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442620" target="_blank" href="/omim/613164">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=442620">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/442620" ref="tree=GTR&amp;ncbi_uid=442620&amp;link_uid=442620" title="View MedGen record for 'Parkinson disease 16'">Parkinson disease 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280133[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=481763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481763" target="_blank" href="/omim/601501">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK447258)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=481763">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=481763" ref="ncbi_uid=481763">V</a></span></span><span class="TLline"><a href="/medgen/481763" ref="tree=GTR&amp;ncbi_uid=481763&amp;link_uid=481763" title="View MedGen record for 'Parkinson disease 17'">Parkinson disease 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355499" target="_blank" href="/omim/602404">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=355499">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/355499" ref="tree=GTR&amp;ncbi_uid=355499&amp;link_uid=355499" title="View MedGen record for 'Parkinson disease 3, autosomal dominant'">Parkinson disease 3, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150899[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462249">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462249" target="_blank" href="/omim/191342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=462249">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462249" ref="ncbi_uid=462249">V</a></span></span><span class="TLline"><a href="/medgen/462249" ref="tree=GTR&amp;ncbi_uid=462249&amp;link_uid=462249" title="View MedGen record for 'Parkinson disease 5, autosomal dominant, susceptibility to'">Parkinson disease 5, autosomal dominant, susceptibility to</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3160718[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=463618">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=463618" target="_blank" href="/omim/168600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1223%20OR%20NBK1269)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=463618">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=463618" ref="ncbi_uid=463618">V</a></span></span><span class="TLline">Parkinson disease, late-onset</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838867[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=333199">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333199" target="_blank" href="/omim/556500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=333199">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=333199" ref="ncbi_uid=333199">V</a></span></span><span class="TLline"><a href="/medgen/333199" ref="tree=GTR&amp;ncbi_uid=333199&amp;link_uid=333199" title="View MedGen record for 'Parkinson disease, mitochondrial'">Parkinson disease, mitochondrial</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850100[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=337969">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337969" target="_blank" href="/omim/260300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1223/" ref="ncbi_uid=337969">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=337969" ref="ncbi_uid=337969">V</a></span></span><span class="TLline"><a href="/medgen/337969" ref="tree=GTR&amp;ncbi_uid=337969&amp;link_uid=337969" title="View MedGen record for 'Parkinsonian-pyramidal syndrome'">Parkinsonian-pyramidal syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842886" ref="tree=MeSH" title="MedGen record for Genetic neurodegenerative disease with dementia">Genetic neurodegenerative disease with dementia</a></span><ul><li><span class="matched_ds">Parkinson disease, late-onset</span></li></ul></li></ul></div></div></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/21476119">Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falcone DC,
Wood EM,
Xie SX,
Siderowf A,
Van Deerlin VM</span><br />
<span class="medgenPMjournal">J Genet Couns</span>
2011 Aug;20(4):384-95.
Epub 2011 Apr 8
doi: 10.1007/s10897-011-9362-0.
<span class="bold">PMID: </span><a href="/pubmed/21476119" target="_blank">21476119</a><a href="/pmc/articles/PMC3280083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22parkinson%20disease%2C%20late-onset%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 (1)</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/36153580">APOE in the bullseye of neurodegenerative diseases: impact of the APOE genotype in Alzheimer's disease pathology and brain diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Calle R,
Konings SC,
Frontiñán-Rubio J,
García-Revilla J,
Camprubí-Ferrer L,
Svensson M,
Martinson I,
Boza-Serrano A,
Venero JL,
Nielsen HM,
Gouras GK,
Deierborg T</span><br />
<span class="medgenPMjournal">Mol Neurodegener</span>
2022 Sep 24;17(1):62.
doi: 10.1186/s13024-022-00566-4.
<span class="bold">PMID: </span><a href="/pubmed/36153580" target="_blank">36153580</a><a href="/pmc/articles/PMC9509584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35861376">The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YP,
Yu SH,
Zhang GH,
Hou YB,
Gu XJ,
Ou RW,
Shen Y,
Song W,
Chen XP,
Zhao B,
Cao B,
Zhang LY,
Sun MM,
Liu FF,
Wei QQ,
Liu KC,
Lin JY,
Yang TM,
Yang J,
Wu Y,
Jiang Z,
Liu J,
Cheng YF,
Xiao Y,
Su WM,
Feng F,
Cai YY,
Li SR,
Hu T,
Yuan XQ,
Zhou QQ,
Shao N,
Ma S,
Shang HF</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2022 Nov;29(11):3218-3228.
Epub 2022 Aug 4
doi: 10.1111/ene.15509.
<span class="bold">PMID: </span><a href="/pubmed/35861376" target="_blank">35861376</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34942142">The neuropsychiatry of Parkinson's disease: advances and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weintraub D,
Aarsland D,
Chaudhuri KR,
Dobkin RD,
Leentjens AF,
Rodriguez-Violante M,
Schrag A</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Jan;21(1):89-102.
doi: 10.1016/S1474-4422(21)00330-6.
<span class="bold">PMID: </span><a href="/pubmed/34942142" target="_blank">34942142</a><a href="/pmc/articles/PMC8800169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34148545">Identification of sixteen novel candidate genes for late onset Parkinson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gialluisi A,
Reccia MG,
Modugno N,
Nutile T,
Lombardi A,
Di Giovannantonio LG,
Pietracupa S,
Ruggiero D,
Scala S,
Gambardella S;
International Parkinson’s Disease Genomics Consortium (IPDGC),
Iacoviello L,
Gianfrancesco F,
Acampora D,
D'Esposito M,
Simeone A,
Ciullo M,
Esposito T</span><br />
<span class="medgenPMjournal">Mol Neurodegener</span>
2021 Jun 21;16(1):35.
doi: 10.1186/s13024-021-00455-2.
<span class="bold">PMID: </span><a href="/pubmed/34148545" target="_blank">34148545</a><a href="/pmc/articles/PMC8215754" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31176633">Young-onset Parkinson's disease: Its unique features and their impact on quality of life.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mehanna R,
Jankovic J</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2019 Aug;65:39-48.
Epub 2019 Jun 1
doi: 10.1016/j.parkreldis.2019.06.001.
<span class="bold">PMID: </span><a href="/pubmed/31176633" target="_blank">31176633</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (550)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35596580">Epilepsy in neurodegenerative diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neri S,
Mastroianni G,
Gardella E,
Aguglia U,
Rubboli G</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2022 Apr 1;24(2):249-273.
doi: 10.1684/epd.2021.1406.
<span class="bold">PMID: </span><a href="/pubmed/35596580" target="_blank">35596580</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34942142">The neuropsychiatry of Parkinson's disease: advances and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weintraub D,
Aarsland D,
Chaudhuri KR,
Dobkin RD,
Leentjens AF,
Rodriguez-Violante M,
Schrag A</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Jan;21(1):89-102.
doi: 10.1016/S1474-4422(21)00330-6.
<span class="bold">PMID: </span><a href="/pubmed/34942142" target="_blank">34942142</a><a href="/pmc/articles/PMC8800169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34569973">A Practical Approach to Early-Onset Parkinsonism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riboldi GM,
Frattini E,
Monfrini E,
Frucht SJ,
Di Fonzo A</span><br />
<span class="medgenPMjournal">J Parkinsons Dis</span>
2022;12(1):1-26.
doi: 10.3233/JPD-212815.
<span class="bold">PMID: </span><a href="/pubmed/34569973" target="_blank">34569973</a><a href="/pmc/articles/PMC8842790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30820047">Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kunkle BW,
Grenier-Boley B,
Sims R,
Bis JC,
Damotte V,
Naj AC,
Boland A,
Vronskaya M,
van der Lee SJ,
Amlie-Wolf A,
Bellenguez C,
Frizatti A,
Chouraki V,
Martin ER,
Sleegers K,
Badarinarayan N,
Jakobsdottir J,
Hamilton-Nelson KL,
Moreno-Grau S,
Olaso R,
Raybould R,
Chen Y,
Kuzma AB,
Hiltunen M,
Morgan T,
Ahmad S,
Vardarajan BN,
Epelbaum J,
Hoffmann P,
Boada M,
Beecham GW,
Garnier JG,
Harold D,
Fitzpatrick AL,
Valladares O,
Moutet ML,
Gerrish A,
Smith AV,
Qu L,
Bacq D,
Denning N,
Jian X,
Zhao Y,
Del Zompo M,
Fox NC,
Choi SH,
Mateo I,
Hughes JT,
Adams HH,
Malamon J,
Sanchez-Garcia F,
Patel Y,
Brody JA,
Dombroski BA,
Naranjo MCD,
Daniilidou M,
Eiriksdottir G,
Mukherjee S,
Wallon D,
Uphill J,
Aspelund T,
Cantwell LB,
Garzia F,
Galimberti D,
Hofer E,
Butkiewicz M,
Fin B,
Scarpini E,
Sarnowski C,
Bush WS,
Meslage S,
Kornhuber J,
White CC,
Song Y,
Barber RC,
Engelborghs S,
Sordon S,
Voijnovic D,
Adams PM,
Vandenberghe R,
Mayhaus M,
Cupples LA,
Albert MS,
De Deyn PP,
Gu W,
Himali JJ,
Beekly D,
Squassina A,
Hartmann AM,
Orellana A,
Blacker D,
Rodriguez-Rodriguez E,
Lovestone S,
Garcia ME,
Doody RS,
Munoz-Fernadez C,
Sussams R,
Lin H,
Fairchild TJ,
Benito YA,
Holmes C,
Karamujić-Čomić H,
Frosch MP,
Thonberg H,
Maier W,
Roshchupkin G,
Ghetti B,
Giedraitis V,
Kawalia A,
Li S,
Huebinger RM,
Kilander L,
Moebus S,
Hernández I,
Kamboh MI,
Brundin R,
Turton J,
Yang Q,
Katz MJ,
Concari L,
Lord J,
Beiser AS,
Keene CD,
Helisalmi S,
Kloszewska I,
Kukull WA,
Koivisto AM,
Lynch A,
Tarraga L,
Larson EB,
Haapasalo A,
Lawlor B,
Mosley TH,
Lipton RB,
Solfrizzi V,
Gill M,
Longstreth WT Jr,
Montine TJ,
Frisardi V,
Diez-Fairen M,
Rivadeneira F,
Petersen RC,
Deramecourt V,
Alvarez I,
Salani F,
Ciaramella A,
Boerwinkle E,
Reiman EM,
Fievet N,
Rotter JI,
Reisch JS,
Hanon O,
Cupidi C,
Andre Uitterlinden AG,
Royall DR,
Dufouil C,
Maletta RG,
de Rojas I,
Sano M,
Brice A,
Cecchetti R,
George-Hyslop PS,
Ritchie K,
Tsolaki M,
Tsuang DW,
Dubois B,
Craig D,
Wu CK,
Soininen H,
Avramidou D,
Albin RL,
Fratiglioni L,
Germanou A,
Apostolova LG,
Keller L,
Koutroumani M,
Arnold SE,
Panza F,
Gkatzima O,
Asthana S,
Hannequin D,
Whitehead P,
Atwood CS,
Caffarra P,
Hampel H,
Quintela I,
Carracedo Á,
Lannfelt L,
Rubinsztein DC,
Barnes LL,
Pasquier F,
Frölich L,
Barral S,
McGuinness B,
Beach TG,
Johnston JA,
Becker JT,
Passmore P,
Bigio EH,
Schott JM,
Bird TD,
Warren JD,
Boeve BF,
Lupton MK,
Bowen JD,
Proitsi P,
Boxer A,
Powell JF,
Burke JR,
Kauwe JSK,
Burns JM,
Mancuso M,
Buxbaum JD,
Bonuccelli U,
Cairns NJ,
McQuillin A,
Cao C,
Livingston G,
Carlson CS,
Bass NJ,
Carlsson CM,
Hardy J,
Carney RM,
Bras J,
Carrasquillo MM,
Guerreiro R,
Allen M,
Chui HC,
Fisher E,
Masullo C,
Crocco EA,
DeCarli C,
Bisceglio G,
Dick M,
Ma L,
Duara R,
Graff-Radford NR,
Evans DA,
Hodges A,
Faber KM,
Scherer M,
Fallon KB,
Riemenschneider M,
Fardo DW,
Heun R,
Farlow MR,
Kölsch H,
Ferris S,
Leber M,
Foroud TM,
Heuser I,
Galasko DR,
Giegling I,
Gearing M,
Hüll M,
Geschwind DH,
Gilbert JR,
Morris J,
Green RC,
Mayo K,
Growdon JH,
Feulner T,
Hamilton RL,
Harrell LE,
Drichel D,
Honig LS,
Cushion TD,
Huentelman MJ,
Hollingworth P,
Hulette CM,
Hyman BT,
Marshall R,
Jarvik GP,
Meggy A,
Abner E,
Menzies GE,
Jin LW,
Leonenko G,
Real LM,
Jun GR,
Baldwin CT,
Grozeva D,
Karydas A,
Russo G,
Kaye JA,
Kim R,
Jessen F,
Kowall NW,
Vellas B,
Kramer JH,
Vardy E,
LaFerla FM,
Jöckel KH,
Lah JJ,
Dichgans M,
Leverenz JB,
Mann D,
Levey AI,
Pickering-Brown S,
Lieberman AP,
Klopp N,
Lunetta KL,
Wichmann HE,
Lyketsos CG,
Morgan K,
Marson DC,
Brown K,
Martiniuk F,
Medway C,
Mash DC,
Nöthen MM,
Masliah E,
Hooper NM,
McCormick WC,
Daniele A,
McCurry SM,
Bayer A,
McDavid AN,
Gallacher J,
McKee AC,
van den Bussche H,
Mesulam M,
Brayne C,
Miller BL,
Riedel-Heller S,
Miller CA,
Miller JW,
Al-Chalabi A,
Morris JC,
Shaw CE,
Myers AJ,
Wiltfang J,
O'Bryant S,
Olichney JM,
Alvarez V,
Parisi JE,
Singleton AB,
Paulson HL,
Collinge J,
Perry WR,
Mead S,
Peskind E,
Cribbs DH,
Rossor M,
Pierce A,
Ryan NS,
Poon WW,
Nacmias B,
Potter H,
Sorbi S,
Quinn JF,
Sacchinelli E,
Raj A,
Spalletta G,
Raskind M,
Caltagirone C,
Bossù P,
Orfei MD,
Reisberg B,
Clarke R,
Reitz C,
Smith AD,
Ringman JM,
Warden D,
Roberson ED,
Wilcock G,
Rogaeva E,
Bruni AC,
Rosen HJ,
Gallo M,
Rosenberg RN,
Ben-Shlomo Y,
Sager MA,
Mecocci P,
Saykin AJ,
Pastor P,
Cuccaro ML,
Vance JM,
Schneider JA,
Schneider LS,
Slifer S,
Seeley WW,
Smith AG,
Sonnen JA,
Spina S,
Stern RA,
Swerdlow RH,
Tang M,
Tanzi RE,
Trojanowski JQ,
Troncoso JC,
Van Deerlin VM,
Van Eldik LJ,
Vinters HV,
Vonsattel JP,
Weintraub S,
Welsh-Bohmer KA,
Wilhelmsen KC,
Williamson J,
Wingo TS,
Woltjer RL,
Wright CB,
Yu CE,
Yu L,
Saba Y,
Pilotto A,
Bullido MJ,
Peters O,
Crane PK,
Bennett D,
Bosco P,
Coto E,
Boccardi V,
De Jager PL,
Lleo A,
Warner N,
Lopez OL,
Ingelsson M,
Deloukas P,
Cruchaga C,
Graff C,
Gwilliam R,
Fornage M,
Goate AM,
Sanchez-Juan P,
Kehoe PG,
Amin N,
Ertekin-Taner N,
Berr C,
Debette S,
Love S,
Launer LJ,
Younkin SG,
Dartigues JF,
Corcoran C,
Ikram MA,
Dickson DW,
Nicolas G,
Campion D,
Tschanz J,
Schmidt H,
Hakonarson H,
Clarimon J,
Munger R,
Schmidt R,
Farrer LA,
Van Broeckhoven C,
C O'Donovan M,
DeStefano AL,
Jones L,
Haines JL,
Deleuze JF,
Owen MJ,
Gudnason V,
Mayeux R,
Escott-Price V,
Psaty BM,
Ramirez A,
Wang LS,
Ruiz A,
van Duijn CM,
Holmans PA,
Seshadri S,
Williams J,
Amouyel P,
Schellenberg GD,
Lambert JC,
Pericak-Vance MA;
Alzheimer Disease Genetics Consortium (ADGC),;
European Alzheimer’s Disease Initiative (EADI),;
Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),;
Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),</span><br />
<span class="medgenPMjournal">Nat Genet</span>
2019 Mar;51(3):414-430.
Epub 2019 Feb 28
doi: 10.1038/s41588-019-0358-2.
<span class="bold">PMID: </span><a href="/pubmed/30820047" target="_blank">30820047</a><a href="/pmc/articles/PMC6463297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25496901">Wilson's disease and other neurological copper disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bandmann O,
Weiss KH,
Kaler SG</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2015 Jan;14(1):103-13.
doi: 10.1016/S1474-4422(14)70190-5.
<span class="bold">PMID: </span><a href="/pubmed/25496901" target="_blank">25496901</a><a href="/pmc/articles/PMC4336199" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (328)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36866576">Overview of late-onset psychoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Devanand DP,
Jeste DV,
Stroup TS,
Goldberg TE</span><br />
<span class="medgenPMjournal">Int Psychogeriatr</span>
2024 Jan;36(1):28-42.
Epub 2023 Mar 3
doi: 10.1017/S1041610223000157.
<span class="bold">PMID: </span><a href="/pubmed/36866576" target="_blank">36866576</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38127736">Rab29-dependent asymmetrical activation of leucine-rich repeat kinase 2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu H,
Tonelli F,
Turk M,
Prescott A,
Alessi DR,
Sun J</span><br />
<span class="medgenPMjournal">Science</span>
2023 Dec 22;382(6677):1404-1411.
Epub 2023 Dec 21
doi: 10.1126/science.adi9926.
<span class="bold">PMID: </span><a href="/pubmed/38127736" target="_blank">38127736</a><a href="/pmc/articles/PMC10786121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36573661">Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nilles C,
Obadia MA,
Sobesky R,
Dumortier J,
Guillaud O,
Laurencin C,
Moreau C,
Vanlemmens C,
Ory-Magne F,
de Ledinghen V,
Bardou-Jacquet E,
Fluchère F,
Collet C,
Oussedik-Djebrani N,
Woimant F,
Poujois A</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2023 Feb;38(2):321-332.
Epub 2022 Dec 27
doi: 10.1002/mds.29292.
<span class="bold">PMID: </span><a href="/pubmed/36573661" target="_blank">36573661</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36502340">Early-Onset Parkinson's Disease: Creating the Right Environment for a Genetic Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolicheski A,
Turcano P,
Tamvaka N,
McLean PJ,
Springer W,
Savica R,
Ross OA</span><br />
<span class="medgenPMjournal">J Parkinsons Dis</span>
2022;12(8):2353-2367.
doi: 10.3233/JPD-223380.
<span class="bold">PMID: </span><a href="/pubmed/36502340" target="_blank">36502340</a><a href="/pmc/articles/PMC9837689" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3504556">Tardive myoclonus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Little JT,
Jankovic J</span><br />
<span class="medgenPMjournal">Mov Disord</span>
1987;2(4):307-11.
doi: 10.1002/mds.870020408.
<span class="bold">PMID: </span><a href="/pubmed/3504556" target="_blank">3504556</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (119)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36866576">Overview of late-onset psychoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Devanand DP,
Jeste DV,
Stroup TS,
Goldberg TE</span><br />
<span class="medgenPMjournal">Int Psychogeriatr</span>
2024 Jan;36(1):28-42.
Epub 2023 Mar 3
doi: 10.1017/S1041610223000157.
<span class="bold">PMID: </span><a href="/pubmed/36866576" target="_blank">36866576</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34942142">The neuropsychiatry of Parkinson's disease: advances and challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Weintraub D,
Aarsland D,
Chaudhuri KR,
Dobkin RD,
Leentjens AF,
Rodriguez-Violante M,
Schrag A</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Jan;21(1):89-102.
doi: 10.1016/S1474-4422(21)00330-6.
<span class="bold">PMID: </span><a href="/pubmed/34942142" target="_blank">34942142</a><a href="/pmc/articles/PMC8800169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H</span><br />
<span class="medgenPMjournal">Autophagy</span>
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34148545">Identification of sixteen novel candidate genes for late onset Parkinson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gialluisi A,
Reccia MG,
Modugno N,
Nutile T,
Lombardi A,
Di Giovannantonio LG,
Pietracupa S,
Ruggiero D,
Scala S,
Gambardella S;
International Parkinson’s Disease Genomics Consortium (IPDGC),
Iacoviello L,
Gianfrancesco F,
Acampora D,
D'Esposito M,
Simeone A,
Ciullo M,
Esposito T</span><br />
<span class="medgenPMjournal">Mol Neurodegener</span>
2021 Jun 21;16(1):35.
doi: 10.1186/s13024-021-00455-2.
<span class="bold">PMID: </span><a href="/pubmed/34148545" target="_blank">34148545</a><a href="/pmc/articles/PMC8215754" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22166450">Autosomal recessive parkinsonism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonifati V</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2012 Jan;18 Suppl 1:S4-6.
doi: 10.1016/S1353-8020(11)70004-9.
<span class="bold">PMID: </span><a href="/pubmed/22166450" target="_blank">22166450</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (142)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38917806">Genome-wide CRISPR screen identifies neddylation as a regulator of neuronal aging and AD neurodegeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saurat N,
Minotti AP,
Rahman MT,
Sikder T,
Zhang C,
Cornacchia D,
Jungverdorben J,
Ciceri G,
Betel D,
Studer L</span><br />
<span class="medgenPMjournal">Cell Stem Cell</span>
2024 Aug 1;31(8):1162-1174.e8.
Epub 2024 Jun 24
doi: 10.1016/j.stem.2024.06.001.
<span class="bold">PMID: </span><a href="/pubmed/38917806" target="_blank">38917806</a><a href="/pmc/articles/PMC11405001" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38870773">Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kissell J,
Rochmann C,
Minini P,
Eichler F,
Stephen CD,
Lau H,
Toro C,
Johnston JM,
Krupnick R,
Hamed A,
Cox GF</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2024 Jul;142(3):108512.
Epub 2024 Jun 6
doi: 10.1016/j.ymgme.2024.108512.
<span class="bold">PMID: </span><a href="/pubmed/38870773" target="_blank">38870773</a><a href="/pmc/articles/PMC11317923" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38735056">Characterizing molecular and synaptic signatures in mouse models of late-onset Alzheimer's disease independent of amyloid and tau pathology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kotredes KP,
Pandey RS,
Persohn S,
Elderidge K,
Burton CP,
Miner EW,
Haynes KA,
Santos DFS,
Williams SP,
Heaton N,
Ingraham CM,
Lloyd C,
Garceau D,
O'Rourke R,
Herrick S,
Rangel-Barajas C,
Maharjan S,
Wang N,
Sasner M,
Lamb BT,
Territo PR,
Sukoff Rizzo SJ,
Carter GW,
Howell GR,
Oblak AL</span><br />
<span class="medgenPMjournal">Alzheimers Dement</span>
2024 Jun;20(6):4126-4146.
Epub 2024 May 12
doi: 10.1002/alz.13828.
<span class="bold">PMID: </span><a href="/pubmed/38735056" target="_blank">38735056</a><a href="/pmc/articles/PMC11180851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35729600">Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guo P,
Gong W,
Li Y,
Liu L,
Yan R,
Wang Y,
Zhang Y,
Yuan Z</span><br />
<span class="medgenPMjournal">BMC Med</span>
2022 Jun 22;20(1):214.
doi: 10.1186/s12916-022-02404-2.
<span class="bold">PMID: </span><a href="/pubmed/35729600" target="_blank">35729600</a><a href="/pmc/articles/PMC9214990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34148545">Identification of sixteen novel candidate genes for late onset Parkinson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gialluisi A,
Reccia MG,
Modugno N,
Nutile T,
Lombardi A,
Di Giovannantonio LG,
Pietracupa S,
Ruggiero D,
Scala S,
Gambardella S;
International Parkinson’s Disease Genomics Consortium (IPDGC),
Iacoviello L,
Gianfrancesco F,
Acampora D,
D'Esposito M,
Simeone A,
Ciullo M,
Esposito T</span><br />
<span class="medgenPMjournal">Mol Neurodegener</span>
2021 Jun 21;16(1):35.
doi: 10.1186/s13024-021-00455-2.
<span class="bold">PMID: </span><a href="/pubmed/34148545" target="_blank">34148545</a><a href="/pmc/articles/PMC8215754" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (330)</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/39044616">Epidemiology of Huntington's Disease in Latin America: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medina Escobar A,
Pringsheim T,
Gautreau S,
Rivera-Duarte JD,
Amorelli G,
Cornejo-Olivas M,
Rossi M</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2024 Nov;39(11):1907-1921.
Epub 2024 Jul 23
doi: 10.1002/mds.29929.
<span class="bold">PMID: </span><a href="/pubmed/39044616" target="_blank">39044616</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37933060">Comparison of UPDRS III score between young and late onset Parkinson disease after deep brain stimulation: A meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JM,
Pak K</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2023 Nov 3;102(44):e35861.
doi: 10.1097/MD.0000000000035861.
<span class="bold">PMID: </span><a href="/pubmed/37933060" target="_blank">37933060</a><a href="/pmc/articles/PMC10627674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35970734">The Association Between Somatic Symptom Disorders and Neurocognitive Disorders: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sammartino-Arbour A,
Dufour A,
Frenette V,
Forget MF,
Bruneau MA,
Ducharme S,
Camicioli R,
Nguyen QD,
Desmarais P</span><br />
<span class="medgenPMjournal">Am J Geriatr Psychiatry</span>
2023 Jan;31(1):33-43.
Epub 2022 Jul 24
doi: 10.1016/j.jagp.2022.07.007.
<span class="bold">PMID: </span><a href="/pubmed/35970734" target="_blank">35970734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34622992">Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
Mehta S,
Di Lazzaro G,
Latorre A,
Edwards MJ,
Balint B,
Basu P,
Kobylecki C,
Groppa S,
Hegde A,
Mulroy E,
Estevez-Fraga C,
Arora A,
Kumar H,
Schneider SA,
Lewis PA,
Jaunmuktane Z,
Revesz T,
Gandhi S,
Wood NW,
Hardy JA,
Tinazzi M,
Lal V,
Houlden H,
Bhatia KP</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2022 Jan;37(1):148-161.
Epub 2021 Oct 8
doi: 10.1002/mds.28807.
<span class="bold">PMID: </span><a href="/pubmed/34622992" target="_blank">34622992</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22956510">Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kilarski LL,
Pearson JP,
Newsway V,
Majounie E,
Knipe MD,
Misbahuddin A,
Chinnery PF,
Burn DJ,
Clarke CE,
Marion MH,
Lewthwaite AJ,
Nicholl DJ,
Wood NW,
Morrison KE,
Williams-Gray CH,
Evans JR,
Sawcer SJ,
Barker RA,
Wickremaratchi MM,
Ben-Shlomo Y,
Williams NM,
Morris HR</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2012 Oct;27(12):1522-9.
Epub 2012 Sep 6
doi: 10.1002/mds.25132.
<span class="bold">PMID: </span><a href="/pubmed/22956510" target="_blank">22956510</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parkinson%20disease%2C%20late-onset%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 (6)</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=C3160718%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
<li><a href="/gtr/tests?term=C3160718%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C3160718%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
<li><a href="/gtr/tests?term=C3160718%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3160718%5bDISCUI%5d" target="_blank">See all (36)</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://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=168600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=411602" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Parkinson%20disease,%20late-onset" 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=(%22parkinson%20disease%2C%20late-onset%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(%22Parkinson%20disease%2C%20late-onset%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_115">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=103730%20157140%20590090%20600075%20601517%20601828%20603680%20603779%20606463%20607047" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=126[geneid]" target="_blank">View ADH1C variations in ClinVar</a></li><li><a href="/clinvar/?term=2629[geneid]" target="_blank">View GBA1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4137[geneid]" target="_blank">View MAPT variations in ClinVar</a></li><li><a href="/clinvar/?term=4287[geneid]" target="_blank">View ATXN3 variations in ClinVar</a></li><li><a href="/clinvar/?term=4576[geneid]" target="_blank">View MT-TT variations in ClinVar</a></li><li><a href="/clinvar/?term=4929[geneid]" target="_blank">View NR4A2 variations in ClinVar</a></li><li><a href="/clinvar/?term=6311[geneid]" target="_blank">View ATXN2 variations in ClinVar</a></li><li><a href="/clinvar/?term=6315[geneid]" target="_blank">View ATXN8OS variations in ClinVar</a></li><li><a href="/clinvar/?term=6908[geneid]" target="_blank">View TBP variations in ClinVar</a></li><li><a href="/clinvar/?term=9627[geneid]" target="_blank">View SNCAIP variations in ClinVar</a></li><li><a href="/nuccore/167830493,193290129,194018746,223717990,224809282,224922787,225735573,226493744,270341351" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=168600" target="_blank">Coriell Institute for Medical Research</a></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://www.malacards.org/card/parkinson_disease_late_onset" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Parkinson%20disease,%20late-onset" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/parkinsons-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17684/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</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/20301446" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
</li>
<li>
<a href="/pubmed/20301402" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
</li>
<li>
<a href="/pubmed/clinical?term=Parkinson%20disease,%20late-onset" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=Parkinson%20disease,%20late-onset%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=4&amp;linkpostotal=4" 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&amp;from_uid=463618" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=463618" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3160718[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3160718[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=463618" ref="log$=recordlinks">OMIM</a>
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=463618" ref="log$=recordlinks">OMIM(Genes)</a>
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=463618" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=463618" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&amp;from_uid=463618" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&amp;from_uid=463618" ref="log$=recordlinks">PubMed (GeneReviews)</a>
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&amp;from_uid=463618" ref="log$=recordlinks">PubMed (OMIM)</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
</li>
</ul>
</div>
</div>
<div class="portlet">
<div class="portlet_head">
<div class="portlet_title">
<h3>Recent activity</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
</div>
<div class="portlet_content">
<div id="HTDisplay" class="">
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
<div class="action">
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
Clear
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn Off
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn On
</a>
</div>
<ul id="activity">
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4f1d784f3725e5984a38d">Parkinson disease, late-onset</a>
<div class="ralinkpop offscreen_noflow">Parkinson disease, late-onset<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_qry two_line">
<a class="htb" ref="log$=activity&amp;linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4f1d52f30673f7b4348ef">NBK1223 OR NBK1269 <span class="number">(40)</span></a>
<div class="tertiary">Books</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4f1d2cde49f3df7265161">Parkinson disease 5, autosomal dominant, susceptibility to</a>
<div class="ralinkpop offscreen_noflow">Parkinson disease 5, autosomal dominant, susceptibility to<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d4f1cb84f3725e59847615">Parkinson disease 3, autosomal dominant</a>
<div class="ralinkpop offscreen_noflow">Parkinson disease 3, autosomal dominant<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d4f1c867c23b31e0fe6ba5">Parkinson disease 17</a>
<div class="ralinkpop offscreen_noflow">Parkinson disease 17<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</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&amp;" 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&amp;ncbi_app=entrez&amp;ncbi_db=medgen&amp;ncbi_pdid=FullReport&amp;ncbi_phid=CE8E127F7D4E387100000000011700EF" /></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="32765" /><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 portal107 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
<script type='text/javascript' src='/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>
Reference in a new issue View git blame Copy permalink