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Entry
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- %602404 - PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">%602404</span>
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<br />
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<strong>Table of Contents</strong>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS168600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5072" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+5072" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5072" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PARKINSON DISEASE 3, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=932&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5604" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2828" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2828<br />
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<strong>DO:</strong> 0111250<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
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<span class="text-danger"><strong>%</strong></span>
|
|
602404
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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|
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PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/314?start=-3&limit=10&highlight=314">2p13</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:68400001-74800000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:68,400,001-74,800,000</a> </span>
|
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</em>
|
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</strong>
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</span>
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/314?start=-3&limit=10&highlight=314">
|
|
2p13
|
|
</a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
{Parkinson disease 3}
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/602404"> 602404 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS168600" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
|
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|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602404" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602404" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Parkinson disease
|
|
- <a href="/phenotypicSeries/PS168600">PS168600</a>
|
|
- 34 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/115?start=-3&limit=10&highlight=115"> 1p36.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606324"> Parkinson disease 7, autosomal recessive early-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606324"> 606324 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602533"> DJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602533"> 602533 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606693"> Kufor-Rakeb syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606693"> 606693 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> ATP13A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> 610513 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/244?start=-3&limit=10&highlight=244"> 1p36.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605909"> Parkinson disease 6, early onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605909"> 605909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608309"> PINK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608309"> 608309 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/601?start=-3&limit=10&highlight=601"> 1p32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> {Parkinson disease 10} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> PARK10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606852"> 606852 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19b, early-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> Parkinson disease 19a, juvenile-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615528"> 615528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> DNAJC6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608375"> 608375 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1217?start=-3&limit=10&highlight=1217"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> GBA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606463"> 606463 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546"> 1q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> {Parkinson disease 16} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> PARK16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613164"> 613164 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/314?start=-3&limit=10&highlight=314"> 2p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> {Parkinson disease 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> PARK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602404"> 602404 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/389?start=-3&limit=10&highlight=389"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610297"> {Parkinson disease 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610297"> 610297 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> HTRA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606441"> 606441 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1118?start=-3&limit=10&highlight=1118"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607688"> {Parkinson disease 11} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607688"> 607688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> GIGYF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612003"> 612003 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/668?start=-3&limit=10&highlight=668"> 3q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> Parkinson disease 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> PARK21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616361"> 616361 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/917?start=-3&limit=10&highlight=917"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614251"> {Parkinson disease 18} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614251"> 614251 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600495"> EIF4G1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600495"> 600495 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613643"> {?Parkinson disease 5, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613643"> 613643 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> UCHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> 191342 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605543"> Parkinson disease 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605543"> 605543 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168601"> Parkinson disease 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168601"> 168601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> SNCA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/163890"> 163890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/432?start=-3&limit=10&highlight=432"> 4q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> ADH1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103730"> 103730 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/929?start=-3&limit=10&highlight=929"> 6q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620923"> {Parkinson disease 26, autosomal dominant, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620923"> 620923 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> RAB32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612906"> 612906 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1011?start=-3&limit=10&highlight=1011"> 6q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600116"> Parkinson disease, juvenile, type 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600116"> 600116 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> PRKN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602544"> 602544 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> TBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> 600075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/284?start=-3&limit=10&highlight=284"> 7p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616710"> Parkinson disease 22, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616710"> 616710 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> CHCHD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616244"> 616244 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/565?start=-3&limit=10&highlight=565"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620482"> Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620482"> 620482 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> PTPA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600756"> 600756 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/283?start=-3&limit=10&highlight=283"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619491"> {Parkinson disease 24, autosomal dominant, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619491"> 619491 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> PSAP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176801"> 176801 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/290?start=-3&limit=10&highlight=290"> 12q12 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/607060"> {Parkinson disease 8} </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607060"> 607060 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/609007"> LRRK2 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609007"> 609007 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
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</span>
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/168600"> 168600 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/601517"> 601517 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> ATXN8OS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> 603680 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> ATXN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> 607047 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/264?start=-3&limit=10&highlight=264"> 15q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616840"> Parkinson disease 23, autosomal recessive, early onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616840"> 616840 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608879"> VPS13C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608879"> 608879 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/404?start=-3&limit=10&highlight=404"> 16q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614203"> {Parkinson disease 17} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614203"> 614203 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601501"> VPS35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601501"> 601501 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/168600"> 168600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157140"> MAPT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157140"> 157140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615530"> Parkinson disease 20, early-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615530"> 615530 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> SYNJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> 604297 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/204?start=-3&limit=10&highlight=204"> 22q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/260300"> Parkinson disease 15, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/260300"> 260300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605648"> FBXO7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605648"> 605648 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612953"> Parkinson disease 14, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612953"> 612953 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603604"> PLA2G6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603604"> 603604 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/445?start=-3&limit=10&highlight=445"> Xq21-q25 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300557"> {Parkinson disease 12} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300557"> 300557 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300557"> PARK12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300557"> 300557 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see <a href="/entry/168600">168600</a>.</p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Soon after a form of autosomal dominant Parkinson disease was mapped to 4q21-q22 and was shown to be due to mutations in the alpha-synuclein gene (SNCA; <a href="/entry/163890">163890</a>), genetic heterogeneity became apparent, as in other families the disorder was not linked to 4q and was not associated with SNCA mutations. <a href="#3" class="mim-tip-reference" title="Gasser, T., Muller-Myhsok, B., Wszolek, Z. K., Oehlmann, R., Calne, D. B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., Horstmann, R. D. <strong>A susceptibility locus for Parkinson's disease maps to chromosome 2p13.</strong> Nature Genet. 18: 262-265, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500549</a>] [<a href="https://doi.org/10.1038/ng0398-262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500549">Gasser et al. (1998)</a> described a genetic locus on 2p13 in familial parkinsonism with clinical features closely resembling those of sporadic Parkinson disease, including a similar mean age of onset: 59 years in these families, 59.7 years in sporadic PD (<a href="#2" class="mim-tip-reference" title="Di Rocco, A., Molinari, S. P., Kollmeier, B., Yahr, M. D. <strong>Parkinson's disease: progression and mortality in the L-DOPA era.</strong> Adv. Neurol. 69: 3-11, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8615142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8615142</a>]" pmid="8615142">Di Rocco et al., 1996</a>). The maximum multipoint lod score for all 6 families in their study was 3.96, considering affected members only. The most likely location of the locus for this form of familial parkinsonism was considered to be at D2S441, with a 100-to-1 likelihood ratio support interval ranging from D2S134 to D2S286, spanning 10.3 cM on 2p13. The maximum 2-point lod score was 3.20 with marker D2S441 at theta = 0.03. Two of the 6 families were genealogically traced to southern Denmark and northern Germany and were found to share a common haplotype, suggesting a founder effect. <a href="#9" class="mim-tip-reference" title="West, A. B., Zimprich, A., Lockhart, P. J., Farrer, M, Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Muller-Myhsok, B., Wszolek, Z. K., Hardy, J., Gasser, T. <strong>Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.</strong> Europ. J. Hum. Genet. 9: 659-666, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571553</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571553">West et al. (2001)</a> determined that the 2 families reported by <a href="#3" class="mim-tip-reference" title="Gasser, T., Muller-Myhsok, B., Wszolek, Z. K., Oehlmann, R., Calne, D. B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., Horstmann, R. D. <strong>A susceptibility locus for Parkinson's disease maps to chromosome 2p13.</strong> Nature Genet. 18: 262-265, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500549</a>] [<a href="https://doi.org/10.1038/ng0398-262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9500549">Gasser et al. (1998)</a> with the common haplotype shared 8 markers corresponding to a genetic distance of 3.2 cM. Construction of a BAC-based physical map covering the PARK3 locus genotyping 17 microsatellite markers allowed refinement of the minimum common haplotype for PARK3 to a region spanning a physical distance of approximately 2.5 Mb. All 14 known genes within the critical region were sequenced from at least 2 affected persons from each family and no potentially pathogenic mutations were detected, implying that none of these genes are likely candidates for PARK3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9500549+8615142+11571553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Klein, C., Vieregge, P., Hagenah, J., Sieberer, M., Doyle, E., Jacobs, H., Gasser, T., Breakefield, X. O., Risch, N. J., Ozelius, L. J. <strong>Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany.</strong> Ann. Hum. Genet. 63: 285-291, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10738540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10738540</a>] [<a href="https://doi.org/10.1046/j.1469-1809.1999.6340285.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10738540">Klein et al. (1999)</a> evaluated 85 German Parkinson disease patients and 85 ethnically matched controls for shared markers on chromosome 2p that might indicate a founder haplotype. No evidence of linkage disequilibrium was found, suggesting that a previously postulated founder mutation on 2p is not a common cause of Parkinson disease in the population studied by <a href="#5" class="mim-tip-reference" title="Klein, C., Vieregge, P., Hagenah, J., Sieberer, M., Doyle, E., Jacobs, H., Gasser, T., Breakefield, X. O., Risch, N. J., Ozelius, L. J. <strong>Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany.</strong> Ann. Hum. Genet. 63: 285-291, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10738540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10738540</a>] [<a href="https://doi.org/10.1046/j.1469-1809.1999.6340285.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10738540">Klein et al. (1999)</a>. Furthermore, no patient carried the ala30-to-pro change (<a href="/entry/163890#0002">163890.0002</a>) in the alpha-synuclein gene, supporting earlier findings that mutations in this gene are very rare. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10738540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Parkinson disease is characteristically a late-onset neurodegenerative disorder with a mean age at onset of 61 years, but the disorder can range from juvenile cases to cases in the eighth or ninth decade of life. <a href="#1" class="mim-tip-reference" title="DeStefano, A. L., Lew, M. F., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Guttman, M., Montgomery, E., Waters, C. H., Singer, C., Watts, R. L., Currie, L. J., Wooten, G. F., and 19 others. <strong>PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.</strong> Am. J. Hum. Genet. 70: 1089-1095, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11920285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11920285</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11920285[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/339814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11920285">DeStefano et al. (2002)</a> performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives, mainly affected sib pairs. The highest evidence of linkage was found with 2p (maximum multipoint lod = 2.08), a location previously reported as influencing PD affection status. Association between the age at onset of PD and allele 174 of marker D2S1394, located on 2p13, was observed (P = 0.02). This 174 allele was common to the PD haplotype observed in 2 families that showed linkage to PARK3 and had autosomal dominant PD, suggesting that this allele may be in linkage disequilibrium with a mutation influencing PD susceptibility or age at onset of PD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11920285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By studying 281 sib pairs with Parkinson disease, <a href="#4" class="mim-tip-reference" title="Karamohamed, S., DeStefano, A. L., Wilk, J. B., Shoemaker, C. M., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Suchowersky, O., Labelle, N., Guttman, M., Currie, L. J., Wooten, G. F., and 22 others. <strong>A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.</strong> Neurology 61: 1557-1561, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663042</a>] [<a href="https://doi.org/10.1212/01.wnl.0000095966.99430.f4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14663042">Karamohamed et al. (2003)</a> fine-mapped the PARK3 locus to a 2.2-Mb region on chromosome 2p13. Patients with the TT genotype at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1876487;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1876487</a> had an average 7.4-year earlier age at onset compared to patients with the GT or GG genotype (p = 0.005). The authors suggested that the sepiapterin reductase gene (SPR; <a href="/entry/182125">182125</a>) may be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Sharma, M., Mueller, J. C., Zimprich, A., Lichtner, P., Hofer, A., Leitner, P., Maass, S., Berg, D., Durr, A., Bonifati, V., De Michele, G., Oostra, B., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). <strong>The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.</strong> J. Med. Genet. 43: 557-562, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16443856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16443856</a>] [<a href="https://doi.org/10.1136/jmg.2005.039149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16443856">Sharma et al. (2006)</a> found that DNA polymorphisms in a highly intercorrelated linkage disequilibrium block that included the SPR gene appeared to be associated with both sporadic and familial Parkinson disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16443856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Pankratz, N., Uniacke, S. K., Halter, C. A., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Nichols, W. C., Parkinson Study Group. <strong>Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci.</strong> Neurology 62: 1616-1618, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136695</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123112.51368.10" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136695">Pankratz et al. (2004)</a> found evidence for linkage of PD to a 15-cM region on 2p overlapping the PARK3 locus in a group of 151 PD families with an average age at disease onset of 61.9 years. They obtained a maximum multipoint lod score of 4.8 at marker D2S337. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In index patients from 4 families that define the PARK3 locus, <a href="#8" class="mim-tip-reference" title="Strauss, K. M., Martins, L. M., Plun-Favreau, H., Marx, F. P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Muller, T., Bornemann, A., Wolburg, H., Downward, J., Riess, O., Schulz, J. B., Kruger, R. <strong>Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.</strong> Hum. Molec. Genet. 14: 2099-2111, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15961413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15961413</a>] [<a href="https://doi.org/10.1093/hmg/ddi215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15961413">Strauss et al. (2005)</a> found no mutation in the HTRA2 gene, mutations in which cause another form, PARK13 (<a href="/entry/610297">610297</a>). Indeed, the data of <a href="#9" class="mim-tip-reference" title="West, A. B., Zimprich, A., Lockhart, P. J., Farrer, M, Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Muller-Myhsok, B., Wszolek, Z. K., Hardy, J., Gasser, T. <strong>Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.</strong> Europ. J. Hum. Genet. 9: 659-666, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571553</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571553">West et al. (2001)</a> narrowing the PARK3 locus exclude the HTRA2 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15961413+11571553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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DeStefano, A. L., Lew, M. F., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Guttman, M., Montgomery, E., Waters, C. H., Singer, C., Watts, R. L., Currie, L. J., Wooten, G. F., and 19 others.
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<strong>PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.</strong>
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Am. J. Hum. Genet. 70: 1089-1095, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11920285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11920285</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11920285[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11920285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/339814" target="_blank">Full Text</a>]
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Di Rocco, A., Molinari, S. P., Kollmeier, B., Yahr, M. D.
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<strong>Parkinson's disease: progression and mortality in the L-DOPA era.</strong>
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Adv. Neurol. 69: 3-11, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8615142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8615142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8615142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gasser, T., Muller-Myhsok, B., Wszolek, Z. K., Oehlmann, R., Calne, D. B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., Horstmann, R. D.
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<strong>A susceptibility locus for Parkinson's disease maps to chromosome 2p13.</strong>
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Nature Genet. 18: 262-265, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9500549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9500549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9500549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0398-262" target="_blank">Full Text</a>]
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Karamohamed, S., DeStefano, A. L., Wilk, J. B., Shoemaker, C. M., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Suchowersky, O., Labelle, N., Guttman, M., Currie, L. J., Wooten, G. F., and 22 others.
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<strong>A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.</strong>
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Neurology 61: 1557-1561, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000095966.99430.f4" target="_blank">Full Text</a>]
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Klein, C., Vieregge, P., Hagenah, J., Sieberer, M., Doyle, E., Jacobs, H., Gasser, T., Breakefield, X. O., Risch, N. J., Ozelius, L. J.
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<strong>Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany.</strong>
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Ann. Hum. Genet. 63: 285-291, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10738540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10738540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10738540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1469-1809.1999.6340285.x" target="_blank">Full Text</a>]
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<a id="Pankratz2004" class="mim-anchor"></a>
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Pankratz, N., Uniacke, S. K., Halter, C. A., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Nichols, W. C., Parkinson Study Group.
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<strong>Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci.</strong>
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Neurology 62: 1616-1618, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000123112.51368.10" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Sharma2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sharma, M., Mueller, J. C., Zimprich, A., Lichtner, P., Hofer, A., Leitner, P., Maass, S., Berg, D., Durr, A., Bonifati, V., De Michele, G., Oostra, B., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
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<strong>The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.</strong>
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J. Med. Genet. 43: 557-562, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16443856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16443856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16443856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.039149" target="_blank">Full Text</a>]
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<a id="Strauss2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strauss, K. M., Martins, L. M., Plun-Favreau, H., Marx, F. P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Muller, T., Bornemann, A., Wolburg, H., Downward, J., Riess, O., Schulz, J. B., Kruger, R.
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<strong>Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.</strong>
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Hum. Molec. Genet. 14: 2099-2111, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15961413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15961413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15961413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi215" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="West2001" class="mim-anchor"></a>
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<div class="">
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West, A. B., Zimprich, A., Lockhart, P. J., Farrer, M, Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Muller-Myhsok, B., Wszolek, Z. K., Hardy, J., Gasser, T.
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<strong>Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.</strong>
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Europ. J. Hum. Genet. 9: 659-666, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200698" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 9/14/2006
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<span class="mim-text-font">
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George E. Tiller - updated : 8/9/2006<br>Cassandra L. Kniffin - updated : 2/9/2005<br>Cassandra L. Kniffin - updated : 2/4/2004<br>Victor A. McKusick - updated : 5/20/2002<br>Michael B. Petersen - updated : 2/28/2002<br>Victor A. McKusick - updated : 5/1/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 2/27/1998
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/11/2022
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<span class="mim-text-font">
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ckniffin : 11/17/2010<br>alopez : 1/4/2010<br>terry : 5/15/2007<br>alopez : 9/14/2006<br>alopez : 8/18/2006<br>alopez : 8/9/2006<br>wwang : 3/11/2005<br>tkritzer : 2/11/2005<br>ckniffin : 2/9/2005<br>alopez : 3/17/2004<br>tkritzer : 2/10/2004<br>ckniffin : 2/4/2004<br>cwells : 1/7/2003<br>carol : 10/29/2002<br>terry : 5/20/2002<br>cwells : 3/5/2002<br>cwells : 2/28/2002<br>mcapotos : 5/26/2000<br>mcapotos : 5/25/2000<br>terry : 5/1/2000<br>alopez : 4/22/1998<br>dholmes : 3/10/1998<br>alopez : 3/6/1998<br>alopez : 2/27/1998<br>alopez : 2/27/1998
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<strong>%</strong> 602404
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<h3>
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PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3
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<em>Alternative titles; symbols</em>
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PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY
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<strong>ORPHA:</strong> 2828;
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<strong>DO:</strong> 0111250;
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Cytogenetic location: 2p13
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:68,400,001-74,800,000 </span>
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</em>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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2p13
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<span class="mim-font">
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{Parkinson disease 3}
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<span class="mim-font">
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602404
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<span class="mim-font">
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2
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.</p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Soon after a form of autosomal dominant Parkinson disease was mapped to 4q21-q22 and was shown to be due to mutations in the alpha-synuclein gene (SNCA; 163890), genetic heterogeneity became apparent, as in other families the disorder was not linked to 4q and was not associated with SNCA mutations. Gasser et al. (1998) described a genetic locus on 2p13 in familial parkinsonism with clinical features closely resembling those of sporadic Parkinson disease, including a similar mean age of onset: 59 years in these families, 59.7 years in sporadic PD (Di Rocco et al., 1996). The maximum multipoint lod score for all 6 families in their study was 3.96, considering affected members only. The most likely location of the locus for this form of familial parkinsonism was considered to be at D2S441, with a 100-to-1 likelihood ratio support interval ranging from D2S134 to D2S286, spanning 10.3 cM on 2p13. The maximum 2-point lod score was 3.20 with marker D2S441 at theta = 0.03. Two of the 6 families were genealogically traced to southern Denmark and northern Germany and were found to share a common haplotype, suggesting a founder effect. West et al. (2001) determined that the 2 families reported by Gasser et al. (1998) with the common haplotype shared 8 markers corresponding to a genetic distance of 3.2 cM. Construction of a BAC-based physical map covering the PARK3 locus genotyping 17 microsatellite markers allowed refinement of the minimum common haplotype for PARK3 to a region spanning a physical distance of approximately 2.5 Mb. All 14 known genes within the critical region were sequenced from at least 2 affected persons from each family and no potentially pathogenic mutations were detected, implying that none of these genes are likely candidates for PARK3. </p><p>Klein et al. (1999) evaluated 85 German Parkinson disease patients and 85 ethnically matched controls for shared markers on chromosome 2p that might indicate a founder haplotype. No evidence of linkage disequilibrium was found, suggesting that a previously postulated founder mutation on 2p is not a common cause of Parkinson disease in the population studied by Klein et al. (1999). Furthermore, no patient carried the ala30-to-pro change (163890.0002) in the alpha-synuclein gene, supporting earlier findings that mutations in this gene are very rare. </p><p>Parkinson disease is characteristically a late-onset neurodegenerative disorder with a mean age at onset of 61 years, but the disorder can range from juvenile cases to cases in the eighth or ninth decade of life. DeStefano et al. (2002) performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives, mainly affected sib pairs. The highest evidence of linkage was found with 2p (maximum multipoint lod = 2.08), a location previously reported as influencing PD affection status. Association between the age at onset of PD and allele 174 of marker D2S1394, located on 2p13, was observed (P = 0.02). This 174 allele was common to the PD haplotype observed in 2 families that showed linkage to PARK3 and had autosomal dominant PD, suggesting that this allele may be in linkage disequilibrium with a mutation influencing PD susceptibility or age at onset of PD. </p><p>By studying 281 sib pairs with Parkinson disease, Karamohamed et al. (2003) fine-mapped the PARK3 locus to a 2.2-Mb region on chromosome 2p13. Patients with the TT genotype at rs1876487 had an average 7.4-year earlier age at onset compared to patients with the GT or GG genotype (p = 0.005). The authors suggested that the sepiapterin reductase gene (SPR; 182125) may be involved. </p><p>Sharma et al. (2006) found that DNA polymorphisms in a highly intercorrelated linkage disequilibrium block that included the SPR gene appeared to be associated with both sporadic and familial Parkinson disease. </p><p>Pankratz et al. (2004) found evidence for linkage of PD to a 15-cM region on 2p overlapping the PARK3 locus in a group of 151 PD families with an average age at disease onset of 61.9 years. They obtained a maximum multipoint lod score of 4.8 at marker D2S337. </p><p>In index patients from 4 families that define the PARK3 locus, Strauss et al. (2005) found no mutation in the HTRA2 gene, mutations in which cause another form, PARK13 (610297). Indeed, the data of West et al. (2001) narrowing the PARK3 locus exclude the HTRA2 locus. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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DeStefano, A. L., Lew, M. F., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Guttman, M., Montgomery, E., Waters, C. H., Singer, C., Watts, R. L., Currie, L. J., Wooten, G. F., and 19 others.
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<strong>PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.</strong>
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Am. J. Hum. Genet. 70: 1089-1095, 2002.
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[PubMed: 11920285]
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[Full Text: https://doi.org/10.1086/339814]
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Di Rocco, A., Molinari, S. P., Kollmeier, B., Yahr, M. D.
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<strong>Parkinson's disease: progression and mortality in the L-DOPA era.</strong>
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Adv. Neurol. 69: 3-11, 1996.
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[PubMed: 8615142]
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<p class="mim-text-font">
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Gasser, T., Muller-Myhsok, B., Wszolek, Z. K., Oehlmann, R., Calne, D. B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., Horstmann, R. D.
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<strong>A susceptibility locus for Parkinson's disease maps to chromosome 2p13.</strong>
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Karamohamed, S., DeStefano, A. L., Wilk, J. B., Shoemaker, C. M., Golbe, L. I., Mark, M. H., Lazzarini, A. M., Suchowersky, O., Labelle, N., Guttman, M., Currie, L. J., Wooten, G. F., and 22 others.
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<strong>A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.</strong>
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Klein, C., Vieregge, P., Hagenah, J., Sieberer, M., Doyle, E., Jacobs, H., Gasser, T., Breakefield, X. O., Risch, N. J., Ozelius, L. J.
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Pankratz, N., Uniacke, S. K., Halter, C. A., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Nichols, W. C., Parkinson Study Group.
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Sharma, M., Mueller, J. C., Zimprich, A., Lichtner, P., Hofer, A., Leitner, P., Maass, S., Berg, D., Durr, A., Bonifati, V., De Michele, G., Oostra, B., Brice, A., Wood, N. W., Muller-Myhsok, B., Gasser, T., European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
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<strong>The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.</strong>
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Strauss, K. M., Martins, L. M., Plun-Favreau, H., Marx, F. P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Muller, T., Bornemann, A., Wolburg, H., Downward, J., Riess, O., Schulz, J. B., Kruger, R.
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West, A. B., Zimprich, A., Lockhart, P. J., Farrer, M, Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Muller-Myhsok, B., Wszolek, Z. K., Hardy, J., Gasser, T.
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Victor A. McKusick - updated : 9/14/2006<br>George E. Tiller - updated : 8/9/2006<br>Cassandra L. Kniffin - updated : 2/9/2005<br>Cassandra L. Kniffin - updated : 2/4/2004<br>Victor A. McKusick - updated : 5/20/2002<br>Michael B. Petersen - updated : 2/28/2002<br>Victor A. McKusick - updated : 5/1/2000
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Victor A. McKusick : 2/27/1998
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carol : 01/11/2022<br>ckniffin : 11/17/2010<br>alopez : 1/4/2010<br>terry : 5/15/2007<br>alopez : 9/14/2006<br>alopez : 8/18/2006<br>alopez : 8/9/2006<br>wwang : 3/11/2005<br>tkritzer : 2/11/2005<br>ckniffin : 2/9/2005<br>alopez : 3/17/2004<br>tkritzer : 2/10/2004<br>ckniffin : 2/4/2004<br>cwells : 1/7/2003<br>carol : 10/29/2002<br>terry : 5/20/2002<br>cwells : 3/5/2002<br>cwells : 2/28/2002<br>mcapotos : 5/26/2000<br>mcapotos : 5/25/2000<br>terry : 5/1/2000<br>alopez : 4/22/1998<br>dholmes : 3/10/1998<br>alopez : 3/6/1998<br>alopez : 2/27/1998<br>alopez : 2/27/1998
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