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Entry
- #615483 - BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
- OMIM
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<span class="h4">#615483</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/615483"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS213600"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=BASAL GANGLIA CALCIFICATION, IDIOPATHIC" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1923&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://wormbase.org/resources/disease/DOID:0060230" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 1980<br />
<strong>DO:</strong> 0060230<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
615483
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/291?start=-3&limit=10&highlight=291">
22q13.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Basal ganglia calcification, idiopathic, 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615483"> 615483 </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">
PDGFB
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190040"> 190040 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
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<a href="/clinicalSynopsis/615483" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS213600" 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')">
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&nbsp;
<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/615483" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/615483" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Orobuccal dyskinesia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809647</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Motor disturbances <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2220255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2220255</a>]</span><br /> -
Chorea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271700006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271700006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span><br /> -
Dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9748009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9748009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span><br /> -
Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
Athetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58593005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58593005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44913001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44913001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004158</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span><br /> -
Cognitive impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Migraine headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37796009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37796009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/346.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span><br /> -
Motor tics <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751900</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100034</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100034</a>]</span><br /> -
Vertigo <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1069915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1069915</a>, <a href="https://bioportal.bioontology.org/search?q=C0042571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042571</a>, <a href="https://bioportal.bioontology.org/search?q=C1135208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br /> -
Dizziness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404640003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404640003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012833</a>, <a href="https://bioportal.bioontology.org/search?q=C0042571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br /> -
Basal ganglia calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br /> -
Calcification may occur in other brain regions, including cerebellum, thalamus, white matter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3809646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3809646</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6595006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6595006</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
Apathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20602000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20602000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0436596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0436596</a>, <a href="https://bioportal.bioontology.org/search?q=C0085632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span><br /> -
Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
Psychosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br /> -
Executive dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748208</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Mean age at onset 23.9 years (range 10 to 55 years)<br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Some patients may be asymptomatic<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the platelet-derived growth factor, beta polypeptide gene (PDGFB, <a href="/entry/190040#0003">190040.0003</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
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<h5>
Basal ganglia calcification, idiopathic
- <a href="/phenotypicSeries/PS213600">PS213600</a>
- 8 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
<a href="/geneMap/1/1472?start=-3&limit=10&highlight=1472"> 1q25.3 </a>
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<span class="mim-font">
<a href="/entry/616413"> Basal ganglia calcification, idiopathic, 6 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/616413"> 616413 </a>
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<a href="/entry/605237"> XPR1 </a>
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<span class="mim-font">
<a href="/entry/605237"> 605237 </a>
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<a href="/geneMap/2/24?start=-3&limit=10&highlight=24"> 2p25.2 </a>
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<a href="/entry/621018"> Basal ganglia calcification, idiopathic, 10, autosomal recessive </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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<a href="/entry/621018"> 621018 </a>
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<a href="/entry/611787"> CMPK2 </a>
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<span class="mim-font">
<a href="/entry/611787"> 611787 </a>
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<span class="mim-font">
<a href="/geneMap/5/662?start=-3&limit=10&highlight=662"> 5q32 </a>
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<a href="/entry/615007"> Basal ganglia calcification, idiopathic, 4 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/615007"> 615007 </a>
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<a href="/entry/173410"> PDGFRB </a>
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<a href="/entry/173410"> 173410 </a>
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<span class="mim-font">
<a href="/geneMap/8/236?start=-3&limit=10&highlight=236"> 8p11.21 </a>
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<a href="/entry/213600"> Basal ganglia calcification, idiopathic, 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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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<span class="mim-font">
<a href="/entry/213600"> 213600 </a>
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<span class="mim-font">
<a href="/entry/158378"> SLC20A2 </a>
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<span class="mim-font">
<a href="/entry/158378"> 158378 </a>
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<span class="mim-font">
<a href="/geneMap/9/145?start=-3&limit=10&highlight=145"> 9p13.3 </a>
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<span class="mim-font">
<a href="/entry/618317"> Basal ganglia calcification, idiopathic, 7, autosomal recessive </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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<a href="/entry/618317"> 618317 </a>
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<a href="/entry/618255"> MYORG </a>
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<span class="mim-font">
<a href="/entry/618255"> 618255 </a>
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<span class="mim-font">
<a href="/geneMap/16/144?start=-3&limit=10&highlight=144"> 16p13.3 </a>
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<span class="mim-font">
<a href="/entry/620786"> Basal ganglia calcification, idiopathic, 9, autosomal recessive </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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<a href="/entry/620786"> 620786 </a>
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<a href="/entry/614246"> NAA60 </a>
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<span class="mim-font">
<a href="/entry/614246"> 614246 </a>
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<a href="/geneMap/21/29?start=-3&limit=10&highlight=29"> 21q21.3 </a>
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<span class="mim-font">
<a href="/entry/618824"> Basal ganglia calcification, idiopathic, 8, autosomal recessive </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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<a href="/entry/618824"> 618824 </a>
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<span class="mim-font">
<a href="/entry/606870"> JAM2 </a>
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<span class="mim-font">
<a href="/entry/606870"> 606870 </a>
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<span class="mim-font">
<a href="/geneMap/22/291?start=-3&limit=10&highlight=291"> 22q13.1 </a>
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<span class="mim-font">
<a href="/entry/615483"> Basal ganglia calcification, idiopathic, 5 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
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<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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<span class="mim-font">
<a href="/entry/615483"> 615483 </a>
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<span class="mim-font">
<a href="/entry/190040"> PDGFB </a>
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<span class="mim-font">
<a href="/entry/190040"> 190040 </a>
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<p>A number sign (#) is used with this entry because idiopathic basal ganglia calcification-5 (IBGC5) is caused by heterozygous mutation in the PDGFB gene (<a href="/entry/190040">190040</a>) on chromosome 22q13.</p>
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<strong>Description</strong>
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<p>Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by <a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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>For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (<a href="/entry/213600">213600</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Kostic, V. S., Lukic-Jecmenica, M., Novakovic, I., Dobricic, V., Brajkovic, L., Krajinovic, M., Klein, C., Pavlovic, A. &lt;strong&gt;Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.&lt;/strong&gt; J. Neurol. 258: 1637-1642, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21409505/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21409505&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-011-5985-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21409505">Kostic et al. (2011)</a> reported a 4-generation Serbian family in which 6 individuals had symmetric brain calcifications ascertained by CT scan. Two individuals with brain calcifications were asymptomatic. The 4 other individuals developed neurologic symptoms between ages 22 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, dyskinesia, and psychiatric manifestations. Brain perfusion single photon emission CT showed predominant hypoperfusion in the frontal cortex and the basal ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21409505" 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="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a> reported 6 unrelated families with IBGC, including the Serbian family described by <a href="#4" class="mim-tip-reference" title="Kostic, V. S., Lukic-Jecmenica, M., Novakovic, I., Dobricic, V., Brajkovic, L., Krajinovic, M., Klein, C., Pavlovic, A. &lt;strong&gt;Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.&lt;/strong&gt; J. Neurol. 258: 1637-1642, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21409505/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21409505&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-011-5985-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21409505">Kostic et al. (2011)</a>. The mean age at symptom onset was 23.9 years (range 10 to 55 years), although at least 5 individuals with calcifications were asymptomatic, the oldest being 57 years of age. Twelve patients had motor signs, including dystonia/dyskinesias in 8, parkinsonism in 3, and chorea in 3, and 9 patients had cognitive impairment or psychiatric disease, such as psychosis, apathy, and depression. The most common symptom was migraine or headache, present in 13 patients. Brain imaging in all 31 mutation carriers showed calcification in the basal ganglia. Some patients also had calcification in other brain regions, including the thalamus, cerebellum, and cerebral and subcortical white matter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21409505+23913003" 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>
<div class="mim-changed mim-change"><p><a href="#1" class="mim-tip-reference" title="Hayashi, T., Legati, A., Nishikawa, T., Coppola, G. &lt;strong&gt;First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.&lt;/strong&gt; Psychiat. Clin. Neurosci. 69: 77-83, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25211641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25211641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/pcn.12238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25211641">Hayashi et al. (2015)</a> reported a 26-year-old Japanese man and his 71-year-old father with IBGC5. The phenotype was characterized by auditory hallucinations with onset at 16 years of age and a diagnosis of schizophrenia in the son. The son also had seizures at 3 years of age. His father had progressive memory and gait disturbances in his late 60s. The father also had poor attention and extrapyramidal symptoms, including slight tremor of fingers and rigidity of upper extremities. A symmetrical area of calcification over the basal ganglia on CT scan was seen in both father and son, with calcification extending to the thalamus, frontal cortex, and cerebellum on the father's scan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25211641" 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></div>
<div class="mim-changed mim-change"><p><a href="#3" class="mim-tip-reference" title="Keogh, M. J., Pyle, A., Daud, D., Griffin, H., Douroudis, K., Eglon, G., Miller, J., Horvath, R., Chinnery, P. F. &lt;strong&gt;Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.&lt;/strong&gt; Neurology 84: 1818-1820, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25832657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25832657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0000000000001517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25832657">Keogh et al. (2015)</a> reported a grandmother, 2 daughters, and a granddaughter with IBGC5. The grandmother had episodic psychosis and depression for more than 20 years and a severe midline ataxia with jerky ocular pursuit. Her MRI showed calcium deposition in the globus pallidus and dentate. Her daughter, aged 31 years, had acute psychosis, with recurrent episodes of psychosis and depression, and at age 36 years, a CT scan showed basal ganglia calcification. On examination, she had jerky ocular pursuit, generalized chorea, and midline ataxia. Her sister, aged 40 years, had a 2-year history of gait disturbance, with midline ataxia. A CT scan showed bilateral calcification of the globus pallidus. At age 43 years, she developed a complex motor tic and dystonic posturing of both feet. The 20-year-old granddaughter was referred for a gait disturbance, but her neurologic examination was normal. A brain MRI showed small frontal noncalcified white matter changes, but no evidence of calcium in the basal ganglia, leading the authors to note that absence of calcifications does not rule out the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25832657" 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></div>
<div class="mim-changed mim-change"><p><a href="#5" class="mim-tip-reference" title="Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A. &lt;strong&gt;Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.&lt;/strong&gt; Neurol. Neurochir. Pol. 58: 94-105, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38156729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38156729&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.5603/pjnns.97716&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38156729">Yektay Farahmand et al. (2024)</a> reported 2 Swedish families with IBGC5. All 6 affected family members (3 in each family) had white matter hyperintensities and bilateral brain calcifications on imaging. In family A, the 87-year-old grandmother had moderate cognitive decline. At age 57, she was noted to have recurrent episodes of right-sided weakness and paresthesias, consistent with transient ischemic attacks, and was later noted to have a permanent right central facial palsy, consistent with a previous stroke. Her 68-year-old son had a gait disturbance, blepharospasm, cervical dystonia, and vocal tics. The 46-year-old grandson had no signs or symptoms of disease, despite the presence of intracranial calcifications. In family B, the 78-year-old grandmother had seizures and expressive aphasia consistent with a stroke, with hundreds of supratentorial microbleeds on MRI. Her daughter, aged 56 years, had depression, anxiety, bipolar disorder, and psychosis and had ischemic brain lesions, which were clinically silent. The granddaughter, aged 29 years, had depression, anxiety, bipolar disorder, vertigo, headaches, aphasia with limb weakness, involuntary muscle jerks, and vocal tics. These findings led the authors to propose that IBGC5 could predispose patients to stroke, transient ischemic attacks, silent brain infarcts, and cerebral microbleeds, caused by cerebral small vessel disease. Skin biopsies done on 3 affected family members showed normal skin microvasculature, which does not suggest systemic vasculopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38156729" 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></div>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of IBGC5 in the families reported by <a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p><a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a> identified 6 different heterozygous putative loss-of-function mutations in the PDGFB gene (see, e.g., <a href="/entry/190040#0003">190040.0003</a>-<a href="/entry/190040#0007">190040.0007</a>) in 6 (18.8%) of 13 families with idiopathic basal ganglia calcification-5. The initial mutations were found by genome or exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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>
<div class="mim-changed mim-change"><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, <a href="#1" class="mim-tip-reference" title="Hayashi, T., Legati, A., Nishikawa, T., Coppola, G. &lt;strong&gt;First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.&lt;/strong&gt; Psychiat. Clin. Neurosci. 69: 77-83, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25211641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25211641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/pcn.12238&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25211641">Hayashi et al. (2015)</a> identified one of the mutations in the PDGFB gene (R149X; <a href="/entry/190040#0006">190040.0006</a>) that was previously reported by <a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a>. The mutation was found by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25211641+23913003" 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></div>
<div class="mim-changed mim-change"><p>In 4 members of a family with IBGC5, <a href="#3" class="mim-tip-reference" title="Keogh, M. J., Pyle, A., Daud, D., Griffin, H., Douroudis, K., Eglon, G., Miller, J., Horvath, R., Chinnery, P. F. &lt;strong&gt;Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.&lt;/strong&gt; Neurology 84: 1818-1820, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25832657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25832657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0000000000001517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25832657">Keogh et al. (2015)</a> identified a heterozygous missense mutation (c.3657C-T, P122L) in the PDGFB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. The variant was not present in the 1000 Genomes Project and ESP6500 databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25832657" 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></div>
<div class="mim-changed mim-change"><p>In 2 Swedish families with IBGC5, <a href="#5" class="mim-tip-reference" title="Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A. &lt;strong&gt;Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.&lt;/strong&gt; Neurol. Neurochir. Pol. 58: 94-105, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38156729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;38156729&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.5603/pjnns.97716&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="38156729">Yektay Farahmand et al. (2024)</a> identified heterozygous nonsense mutations in the PDGFB gene: Q140X (c.418C-T, NM_002608.4) in family A and R191X (c.571C-T, NM_002608.4) in family B. The mutations were found by whole-exome or whole-genome sequencing, followed by targeted investigation of all known genes related to IBGC. Sanger sequencing confirmed segregation of the mutation with disease in the families. The variants were not present in the gnomAD database (v2.1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38156729" 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></div>
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<a id="animalModel" class="mim-anchor"></a>
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<p><a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a> found that 4-month-old mice homozygous for a hypomorphic Pdgfb allele developed clusters of calcified nodules in the midbrain and thalamus. At age 1 year, mutant mice had more extensive calcification involving the basal forebrain, midbrain, and pons. The lesions were punctate and composed of calcium phosphate. Transgenic reexpression of 2 copies of wildtype endothelial Pdgfb in Pdgfb-null mice prevented the development of brain calcification, whereas reexpression of 1 copy of the rescue allele did not prevent calcification. The findings suggested that it is endothelial Pdgfb, rather than neuronal Pdgfb, that drives the pathology. <a href="#2" class="mim-tip-reference" title="Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others. &lt;strong&gt;Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.&lt;/strong&gt; Nature Genet. 45: 1077-1082, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23913003/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23913003&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2723&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23913003">Keller et al. (2013)</a> postulated that the brain calcification may result from defects in pericytes and the blood-brain barrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" 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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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Hayashi2015" class="mim-anchor"></a>
<div class="mim-changed mim-change">
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Hayashi, T., Legati, A., Nishikawa, T., Coppola, G.
<strong>First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.</strong>
Psychiat. Clin. Neurosci. 69: 77-83, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25211641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25211641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25211641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/pcn.12238" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Keller2013" class="mim-anchor"></a>
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<p class="mim-text-font">
Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others.
<strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong>
Nature Genet. 45: 1077-1082, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23913003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23913003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23913003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2723" target="_blank">Full Text</a>]
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Keogh, M. J., Pyle, A., Daud, D., Griffin, H., Douroudis, K., Eglon, G., Miller, J., Horvath, R., Chinnery, P. F.
<strong>Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.</strong>
Neurology 84: 1818-1820, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25832657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25832657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25832657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0000000000001517" target="_blank">Full Text</a>]
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Kostic, V. S., Lukic-Jecmenica, M., Novakovic, I., Dobricic, V., Brajkovic, L., Krajinovic, M., Klein, C., Pavlovic, A.
<strong>Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.</strong>
J. Neurol. 258: 1637-1642, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21409505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21409505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21409505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00415-011-5985-1" target="_blank">Full Text</a>]
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Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A.
<strong>Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.</strong>
Neurol. Neurochir. Pol. 58: 94-105, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38156729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38156729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38156729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.5603/pjnns.97716" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 01/13/2025
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Cassandra L. Kniffin : 10/17/2013
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carol : 01/13/2025<br>carol : 06/14/2017<br>carol : 05/27/2016<br>carol : 10/24/2013<br>ckniffin : 10/17/2013
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<h3>
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<strong>#</strong> 615483
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BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5
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<strong>ORPHA:</strong> 1980; &nbsp;
<strong>DO:</strong> 0060230; &nbsp;
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<strong>Phenotype-Gene 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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Gene/Locus
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Gene/Locus <br /> MIM number
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22q13.1
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Basal ganglia calcification, idiopathic, 5
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615483
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Autosomal dominant
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3
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PDGFB
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190040
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because idiopathic basal ganglia calcification-5 (IBGC5) is caused by heterozygous mutation in the PDGFB gene (190040) on chromosome 22q13.</p>
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<strong>Description</strong>
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<p>Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013). </p><p>For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).</p>
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<strong>Clinical Features</strong>
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<p>Kostic et al. (2011) reported a 4-generation Serbian family in which 6 individuals had symmetric brain calcifications ascertained by CT scan. Two individuals with brain calcifications were asymptomatic. The 4 other individuals developed neurologic symptoms between ages 22 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, dyskinesia, and psychiatric manifestations. Brain perfusion single photon emission CT showed predominant hypoperfusion in the frontal cortex and the basal ganglia. </p><p>Keller et al. (2013) reported 6 unrelated families with IBGC, including the Serbian family described by Kostic et al. (2011). The mean age at symptom onset was 23.9 years (range 10 to 55 years), although at least 5 individuals with calcifications were asymptomatic, the oldest being 57 years of age. Twelve patients had motor signs, including dystonia/dyskinesias in 8, parkinsonism in 3, and chorea in 3, and 9 patients had cognitive impairment or psychiatric disease, such as psychosis, apathy, and depression. The most common symptom was migraine or headache, present in 13 patients. Brain imaging in all 31 mutation carriers showed calcification in the basal ganglia. Some patients also had calcification in other brain regions, including the thalamus, cerebellum, and cerebral and subcortical white matter. </p><p>Hayashi et al. (2015) reported a 26-year-old Japanese man and his 71-year-old father with IBGC5. The phenotype was characterized by auditory hallucinations with onset at 16 years of age and a diagnosis of schizophrenia in the son. The son also had seizures at 3 years of age. His father had progressive memory and gait disturbances in his late 60s. The father also had poor attention and extrapyramidal symptoms, including slight tremor of fingers and rigidity of upper extremities. A symmetrical area of calcification over the basal ganglia on CT scan was seen in both father and son, with calcification extending to the thalamus, frontal cortex, and cerebellum on the father's scan. </p><p>Keogh et al. (2015) reported a grandmother, 2 daughters, and a granddaughter with IBGC5. The grandmother had episodic psychosis and depression for more than 20 years and a severe midline ataxia with jerky ocular pursuit. Her MRI showed calcium deposition in the globus pallidus and dentate. Her daughter, aged 31 years, had acute psychosis, with recurrent episodes of psychosis and depression, and at age 36 years, a CT scan showed basal ganglia calcification. On examination, she had jerky ocular pursuit, generalized chorea, and midline ataxia. Her sister, aged 40 years, had a 2-year history of gait disturbance, with midline ataxia. A CT scan showed bilateral calcification of the globus pallidus. At age 43 years, she developed a complex motor tic and dystonic posturing of both feet. The 20-year-old granddaughter was referred for a gait disturbance, but her neurologic examination was normal. A brain MRI showed small frontal noncalcified white matter changes, but no evidence of calcium in the basal ganglia, leading the authors to note that absence of calcifications does not rule out the diagnosis. </p><p>Yektay Farahmand et al. (2024) reported 2 Swedish families with IBGC5. All 6 affected family members (3 in each family) had white matter hyperintensities and bilateral brain calcifications on imaging. In family A, the 87-year-old grandmother had moderate cognitive decline. At age 57, she was noted to have recurrent episodes of right-sided weakness and paresthesias, consistent with transient ischemic attacks, and was later noted to have a permanent right central facial palsy, consistent with a previous stroke. Her 68-year-old son had a gait disturbance, blepharospasm, cervical dystonia, and vocal tics. The 46-year-old grandson had no signs or symptoms of disease, despite the presence of intracranial calcifications. In family B, the 78-year-old grandmother had seizures and expressive aphasia consistent with a stroke, with hundreds of supratentorial microbleeds on MRI. Her daughter, aged 56 years, had depression, anxiety, bipolar disorder, and psychosis and had ischemic brain lesions, which were clinically silent. The granddaughter, aged 29 years, had depression, anxiety, bipolar disorder, vertigo, headaches, aphasia with limb weakness, involuntary muscle jerks, and vocal tics. These findings led the authors to propose that IBGC5 could predispose patients to stroke, transient ischemic attacks, silent brain infarcts, and cerebral microbleeds, caused by cerebral small vessel disease. Skin biopsies done on 3 affected family members showed normal skin microvasculature, which does not suggest systemic vasculopathy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of IBGC5 in the families reported by Keller et al. (2013) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Keller et al. (2013) identified 6 different heterozygous putative loss-of-function mutations in the PDGFB gene (see, e.g., 190040.0003-190040.0007) in 6 (18.8%) of 13 families with idiopathic basal ganglia calcification-5. The initial mutations were found by genome or exome sequencing. </p><p>In a 36-year-old Japanese man and his 71-year-old father with IBGC5, Hayashi et al. (2015) identified one of the mutations in the PDGFB gene (R149X; 190040.0006) that was previously reported by Keller et al. (2013). The mutation was found by Sanger sequencing. </p><p>In 4 members of a family with IBGC5, Keogh et al. (2015) identified a heterozygous missense mutation (c.3657C-T, P122L) in the PDGFB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. The variant was not present in the 1000 Genomes Project and ESP6500 databases. </p><p>In 2 Swedish families with IBGC5, Yektay Farahmand et al. (2024) identified heterozygous nonsense mutations in the PDGFB gene: Q140X (c.418C-T, NM_002608.4) in family A and R191X (c.571C-T, NM_002608.4) in family B. The mutations were found by whole-exome or whole-genome sequencing, followed by targeted investigation of all known genes related to IBGC. Sanger sequencing confirmed segregation of the mutation with disease in the families. The variants were not present in the gnomAD database (v2.1). </p>
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<strong>Animal Model</strong>
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<p>Keller et al. (2013) found that 4-month-old mice homozygous for a hypomorphic Pdgfb allele developed clusters of calcified nodules in the midbrain and thalamus. At age 1 year, mutant mice had more extensive calcification involving the basal forebrain, midbrain, and pons. The lesions were punctate and composed of calcium phosphate. Transgenic reexpression of 2 copies of wildtype endothelial Pdgfb in Pdgfb-null mice prevented the development of brain calcification, whereas reexpression of 1 copy of the rescue allele did not prevent calcification. The findings suggested that it is endothelial Pdgfb, rather than neuronal Pdgfb, that drives the pathology. Keller et al. (2013) postulated that the brain calcification may result from defects in pericytes and the blood-brain barrier. </p>
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<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Hayashi, T., Legati, A., Nishikawa, T., Coppola, G.
<strong>First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.</strong>
Psychiat. Clin. Neurosci. 69: 77-83, 2015.
[PubMed: 25211641]
[Full Text: https://doi.org/10.1111/pcn.12238]
</p>
</li>
<li>
<p class="mim-text-font">
Keller, A., Westenberger, A., Sobrido, M. J., Garcia-Murias, M., Domingo, A., Sears, R. L., Lemos, R. R., Ordonez-Ugalde, A., Nicolas, G., Gomes da Cunha, J. E., Rushing, E. J., Hugelshofer, M., and 37 others.
<strong>Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.</strong>
Nature Genet. 45: 1077-1082, 2013.
[PubMed: 23913003]
[Full Text: https://doi.org/10.1038/ng.2723]
</p>
</li>
<li>
<p class="mim-text-font">
Keogh, M. J., Pyle, A., Daud, D., Griffin, H., Douroudis, K., Eglon, G., Miller, J., Horvath, R., Chinnery, P. F.
<strong>Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.</strong>
Neurology 84: 1818-1820, 2015.
[PubMed: 25832657]
[Full Text: https://doi.org/10.1212/WNL.0000000000001517]
</p>
</li>
<li>
<p class="mim-text-font">
Kostic, V. S., Lukic-Jecmenica, M., Novakovic, I., Dobricic, V., Brajkovic, L., Krajinovic, M., Klein, C., Pavlovic, A.
<strong>Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.</strong>
J. Neurol. 258: 1637-1642, 2011.
[PubMed: 21409505]
[Full Text: https://doi.org/10.1007/s00415-011-5985-1]
</p>
</li>
<li>
<p class="mim-text-font">
Yektay Farahmand, M., Wasselius, J., Englund, E., Braverman, I., Puschmann, A., Ilinca, A.
<strong>Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.</strong>
Neurol. Neurochir. Pol. 58: 94-105, 2024.
[PubMed: 38156729]
[Full Text: https://doi.org/10.5603/pjnns.97716]
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