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Entry
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- #614473 - ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
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- OMIM
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<p>
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<span class="h4">#614473</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614473"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS208000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY" 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=10675&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.ncbi.nlm.nih.gov/books/NBK253403/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8456" 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://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614473[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51608" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" 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="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</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 id="mimAnimalModelsLinksFold" 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="https://www.alliancegenome.org/disease/DOID:0050644" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/614473" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050644" 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>
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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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<a id="title" class="mim-anchor"></a>
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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> 51608<br />
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<strong>DO:</strong> 0050644<br />
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">ICD+</a>
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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, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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614473
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</span>
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</span>
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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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ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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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/16/223?start=-3&limit=10&highlight=223">
|
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16p13.11
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</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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Arterial calcification, generalized, of infancy, 2
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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/614473"> 614473 </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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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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</td>
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<td>
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<span class="mim-font">
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ABCC6
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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/603234"> 603234 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614473" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS208000" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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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/614473" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614473" 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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
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</span>
|
|
</div>
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|
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</div>
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|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coronary artery calcification <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/445512009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">445512009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1611184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1611184</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001717</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001717</a>]</span><br /> -
|
|
Cardiac dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277906</a>]</span><br /> -
|
|
Myocardial infarction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926063</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span><br /> -
|
|
Heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Generalized calcification of arteries, including aorta and intraparenchymal arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277907</a>]</span><br /> -
|
|
Hypertension (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Calcification of renal arteries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280931</a>]</span><br /> -
|
|
Nephrocalcinosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br /> -
|
|
Tubular calcification (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280933</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypophosphatemic rickets (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66266003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66266003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72831007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72831007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536983</a>, <a href="https://bioportal.bioontology.org/search?q=C1704375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1704375</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004912</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004912</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypophosphatemic rickets (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66266003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66266003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72831007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72831007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536983</a>, <a href="https://bioportal.bioontology.org/search?q=C1704375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1704375</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004912</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004912" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004912</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
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|
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|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Most patients die in infancy Features of pseudoxanthoma elasticum, an allelic disorder, have not yet been reported in GACI2 patients (the 4 surviving patients reported as of January 2012 are all age 5 years or less)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Caused by mutation in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, <a href="/entry/603234#0001">603234.0001</a>)<br />
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Generalized arterial calcification of infancy
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<a href="/entry/208000"> Arterial calcification, generalized, of infancy, 1 </a>
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<a href="/entry/614473"> Arterial calcification, generalized, of infancy, 2 </a>
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<p>A number sign (#) is used with this entry because of evidence that generalized arterial calcification of infancy-2 (GACI2) is caused by homozygous or compound heterozygous mutation in the ABCC6 gene (<a href="/entry/603234">603234</a>) on chromosome 16p13.</p>
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<p>Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by <a href="#5" class="mim-tip-reference" title="Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M. R., Suk, A., Hohne, W., Schauer, G., Lehmann, M., Roscioli, T., Schnabel, D., Epplen, J. T., Knisely, A., and 10 others. <strong>Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.</strong> Nature Genet. 34: 379-381, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12881724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12881724</a>] [<a href="https://doi.org/10.1038/ng1221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12881724">Rutsch et al., 2003</a> and <a href="#1" class="mim-tip-reference" title="Cheng, K.-S., Chen, M.-R., Ruf, N., Lin, S.-P., Rutsch, F. <strong>Generalized arterial calcification of infancy: different clinical courses in two affected siblings.</strong> Am. J. Med. Genet. 136A: 210-213, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15940697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15940697</a>] [<a href="https://doi.org/10.1002/ajmg.a.30800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15940697">Cheng et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15940697+12881724" 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 general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (<a href="/entry/208000">208000</a>).</p><p>Pseudoxanthoma elasticum (PXE; <a href="/entry/264800">264800</a>) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (<a href="#4" class="mim-tip-reference" title="Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others. <strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong> Am. J. Hum. Genet. 90: 25-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22209248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22209248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22209248[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/10.1016/j.ajhg.2011.11.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22209248">Nitschke et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22209248" 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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<p><a href="#2" class="mim-tip-reference" title="Glatz, A. C., Pawel, B. R., Hsu, D. T., Weinberg, P., Chrisant, M. R. K. <strong>Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.</strong> Pediat. Transplant. 10: 225-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16573612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16573612</a>] [<a href="https://doi.org/10.1111/j.1399-3046.2005.00414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16573612">Glatz et al. (2006)</a> described 2 patients with idiopathic infantile arterial calcification (IIAC). The first was an infant girl who presented at 33 days of life with tachypnea, tachycardia, cool extremities, and poor peripheral pulses. Echocardiography demonstrated cardiac dysfunction and an electrocardiogram and cardiac enzyme levels were suggestive of myocardial infarction (MI). Despite intensive care, her condition deteriorated over the next 2 weeks and the patient died after withdrawal of support at 6.5 weeks of age. Autopsy revealed a markedly enlarged heart, with multiple areas of focal hemorrhage, necrosis, and calcification consistent with MI. Microscopic examination of the vasculature revealed calcification of all major coronary arteries, as well as involvement of the aorta, main and branch pulmonary arteries, celiac, hepatic, suprarenal, pancreaticoduodenal, splenic, mesenteric, renal, and lumbar arteries. Involved arteries showed calcification primarily of the internal elastic lamina, with varying degrees of calcification of the external elastic lamina in areas of heavy calcification, which was circumferential in many sections. Inflammation was not a prominent feature. Intraparenchymal arterial calcifications were found in the spleen, pancreas, diaphragm, thymus, thyroid, trachea, larynx, and salivary glands. Extensive intratubular calcifications were found in the kidneys. Gross examination of the brain showed mild convolutional abnormalities, and microscopy showed rare focal parenchymal calcifications and a single vessel in the corpus striatum with early calcific changes. The second patient with IIAC was an infant girl who presented at age 2 months in cardiogenic shock, and after initial recovery was readmitted in the third month of life with severe heart failure, at which time cardiac MRI showed a large anterolateral and apical aneurysm of the left ventricle, with thinning of the myocardium and moderate to severe mitral regurgitation. The patient had progressively intractable heart failure and died at 4.5 months of age. Autopsy revealed a severely enlarged heart, with severe ischemic changes in the myocardium of the left ventricle and calcification within the subendocardial area. Upon microscopic examination of the arterial system, elastic arteries showed calcification primarily of the outer elastic layers, whereas muscular arteries had preferential calcification of the media with intimal proliferation, accompanied by a foreign body giant cell reaction. These findings were present in the coronary, pulmonary, and renal arteries, as well as the aorta and its branches in the neck. The coronary arteries showed luminal obstruction with near-occlusive changes in segments. Examined veins were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16573612" 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><strong><em>Intrafamilial Phenotypic Variability</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., Rutsch, F., Martin, L. <strong>An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.</strong> Am. J. Med. Genet. 152A: 118-123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034067</a>] [<a href="https://doi.org/10.1002/ajmg.a.33162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034067">Le Boulanger et al. (2010)</a> studied a nonconsanguineous French family in which a younger brother died of a condition 'strikingly reminiscent' of generalized arterial calcification of infancy at 15 months of age, whereas his older brother developed uncomplicated pseudoxanthoma elasticum (PXE; <a href="/entry/264800">264800</a>) in adolescence. The younger brother had a myocardial infarction complicated by heart failure at 6 months of age; skin biopsy at 1 year of age for evaluation of a possible connective tissue disorder showed elastic fiber dystrophy, with clumped and fragmented fibers in the mid dermis, as well as calcifications on the elastic fibers and sporadically in vessel walls of the subcutis. There were no periarticular calcifications on x-ray, and serum phosphate and calcium levels were normal. At 15 months of age, he had a second, fatal MI. Autopsy showed fibrosis of the coronary arteries with calcifications involving the intima, internal elastic lamina, and media, and medium-sized arteries in the adrenal glands, pancreas, thyroid, and testes also showed extensive arterial calcification. At 28 years of age, the older brother presented for evaluation of yellowish papules on his neck; he had no cardiovascular symptoms and cardiac examination and echocardiography were normal. Skin samples from the brother with PXE showed heavy staining of mineralized mid-dermal elastic fibers, with active MGP (<a href="/entry/154870">154870</a>) and fetuin-A (AHSG; <a href="/entry/138680">138680</a>) antibodies, and fetuin-A also showed striking staining of the subepidermal area. All arteries in autopsy samples from the brother with GACI showed the same immunohistochemical profile, as well as calcifications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034067" 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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<p>In an infant girl with generalized arterial calcification who died at 6.5 weeks of age, <a href="#2" class="mim-tip-reference" title="Glatz, A. C., Pawel, B. R., Hsu, D. T., Weinberg, P., Chrisant, M. R. K. <strong>Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.</strong> Pediat. Transplant. 10: 225-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16573612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16573612</a>] [<a href="https://doi.org/10.1111/j.1399-3046.2005.00414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16573612">Glatz et al. (2006)</a> analyzed the gene associated with GACI1 (<a href="/entry/208000">208000</a>), ENPP1 (<a href="/entry/173335">173335</a>), but no pathogenic mutations were found. <a href="#4" class="mim-tip-reference" title="Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others. <strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong> Am. J. Hum. Genet. 90: 25-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22209248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22209248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22209248[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/10.1016/j.ajhg.2011.11.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22209248">Nitschke et al. (2012)</a> restudied this patient and identified compound heterozygosity for splice site mutations in the ABCC6 gene (<a href="/entry/603234#0015">603234.0015</a> and <a href="/entry/603234#0029">603234.0029</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22209248+16573612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 28-year-old French man with pseudoxanthoma elasticum (PXE; <a href="/entry/264800">264800</a>), who had a younger brother who died of GACI at age 15 months, <a href="#3" class="mim-tip-reference" title="Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., Rutsch, F., Martin, L. <strong>An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.</strong> Am. J. Med. Genet. 152A: 118-123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034067</a>] [<a href="https://doi.org/10.1002/ajmg.a.33162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034067">Le Boulanger et al. (2010)</a> identified compound heterozygosity for missense mutations in the known causative gene for PXE, ABCC6 (<a href="/entry/603234#0025">603234.0025</a> and <a href="/entry/603234#0026">603234.0026</a>), which were also found in heterozygosity in each of his unaffected parents, respectively. No disease-causing mutations were found in ENPP1. Although no DNA material was available from the deceased younger brother, his disease was presumed to be related to the familial ABCC6 mutations. <a href="#3" class="mim-tip-reference" title="Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., Rutsch, F., Martin, L. <strong>An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.</strong> Am. J. Med. Genet. 152A: 118-123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034067</a>] [<a href="https://doi.org/10.1002/ajmg.a.33162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034067">Le Boulanger et al. (2010)</a> concluded that GACI may represent an atypical and severe end of the vascular phenotypic spectrum of PXE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034067" 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="#4" class="mim-tip-reference" title="Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others. <strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong> Am. J. Hum. Genet. 90: 25-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22209248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22209248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22209248[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/10.1016/j.ajhg.2011.11.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22209248">Nitschke et al. (2012)</a> analyzed the ABCC6 gene in 28 GACI patients from 25 unrelated families who were negative for mutation in the ENNP1 gene, as well as 2 unrelated GACI patients in whom only 1 ENNP1 mutation had been detected. They identified homozygosity or compound heterozygosity for mutations in ABCC6 in 8 unrelated GACI patients (see, e.g., <a href="/entry/603234#0001">603234.0001</a> and <a href="/entry/603234#0006">603234.0006</a>, and <a href="/entry/603234#0027">603234.0027</a>-<a href="/entry/603234#0029">603234.0029</a>), including 1 of the infant girls originally described by <a href="#2" class="mim-tip-reference" title="Glatz, A. C., Pawel, B. R., Hsu, D. T., Weinberg, P., Chrisant, M. R. K. <strong>Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.</strong> Pediat. Transplant. 10: 225-233, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16573612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16573612</a>] [<a href="https://doi.org/10.1111/j.1399-3046.2005.00414.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16573612">Glatz et al. (2006)</a> (see <a href="/entry/603234#0029">603234.0029</a>). In 6 patients from 5 unrelated families, only 1 mutation was detected in ABCC6; the authors noted that there was no phenotypic difference between these patients and those with biallelic mutations in ABCC6, and stated that mutations in regulatory untranslated regions of ABCC6 might not have been detected by their approach. No mutation in the ABCC6 gene was found in 16 patients from 14 unrelated families, including the 2 patients who were known to carry monoallelic mutations in ENNP1. Overall, 13 different ABCC6 mutations were identified in GACI patients, all but 2 of which had previously been identified in typical PXE patients who had a much milder phenotype than the GACI patients. Based on the considerable overlap of phenotype and genotype of GACI and pseudoxanthoma elasticum, <a href="#4" class="mim-tip-reference" title="Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others. <strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong> Am. J. Hum. Genet. 90: 25-39, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22209248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22209248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22209248[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/10.1016/j.ajhg.2011.11.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22209248">Nitschke et al. (2012)</a> suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than 2 distinct disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22209248+16573612" 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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Cheng, K.-S., Chen, M.-R., Ruf, N., Lin, S.-P., Rutsch, F.
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<strong>Generalized arterial calcification of infancy: different clinical courses in two affected siblings.</strong>
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Am. J. Med. Genet. 136A: 210-213, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15940697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15940697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15940697" 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/10.1002/ajmg.a.30800" target="_blank">Full Text</a>]
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Glatz, A. C., Pawel, B. R., Hsu, D. T., Weinberg, P., Chrisant, M. R. K.
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<strong>Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.</strong>
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Pediat. Transplant. 10: 225-233, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16573612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16573612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16573612" 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/10.1111/j.1399-3046.2005.00414.x" target="_blank">Full Text</a>]
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Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., Rutsch, F., Martin, L.
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<strong>An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.</strong>
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Am. J. Med. Genet. 152A: 118-123, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034067" 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/10.1002/ajmg.a.33162" target="_blank">Full Text</a>]
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Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others.
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<strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong>
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Am. J. Hum. Genet. 90: 25-39, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22209248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22209248</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22209248[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=22209248" 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/10.1016/j.ajhg.2011.11.020" target="_blank">Full Text</a>]
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Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M. R., Suk, A., Hohne, W., Schauer, G., Lehmann, M., Roscioli, T., Schnabel, D., Epplen, J. T., Knisely, A., and 10 others.
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<strong>Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.</strong>
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Nature Genet. 34: 379-381, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12881724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12881724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12881724" 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/ng1221" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 2/8/2012
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carol : 06/14/2022<br>joanna : 05/22/2012<br>terry : 2/15/2012<br>carol : 2/8/2012<br>carol : 2/8/2012
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ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
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<strong>DO:</strong> 0050644;
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ABCC6
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603234
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that generalized arterial calcification of infancy-2 (GACI2) is caused by homozygous or compound heterozygous mutation in the ABCC6 gene (603234) on chromosome 16p13.</p>
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<strong>Description</strong>
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<p>Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of GACI, see GACI1 (208000).</p><p>Pseudoxanthoma elasticum (PXE; 264800) is an allelic disorder caused by mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012). </p>
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<strong>Clinical Features</strong>
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<p>Glatz et al. (2006) described 2 patients with idiopathic infantile arterial calcification (IIAC). The first was an infant girl who presented at 33 days of life with tachypnea, tachycardia, cool extremities, and poor peripheral pulses. Echocardiography demonstrated cardiac dysfunction and an electrocardiogram and cardiac enzyme levels were suggestive of myocardial infarction (MI). Despite intensive care, her condition deteriorated over the next 2 weeks and the patient died after withdrawal of support at 6.5 weeks of age. Autopsy revealed a markedly enlarged heart, with multiple areas of focal hemorrhage, necrosis, and calcification consistent with MI. Microscopic examination of the vasculature revealed calcification of all major coronary arteries, as well as involvement of the aorta, main and branch pulmonary arteries, celiac, hepatic, suprarenal, pancreaticoduodenal, splenic, mesenteric, renal, and lumbar arteries. Involved arteries showed calcification primarily of the internal elastic lamina, with varying degrees of calcification of the external elastic lamina in areas of heavy calcification, which was circumferential in many sections. Inflammation was not a prominent feature. Intraparenchymal arterial calcifications were found in the spleen, pancreas, diaphragm, thymus, thyroid, trachea, larynx, and salivary glands. Extensive intratubular calcifications were found in the kidneys. Gross examination of the brain showed mild convolutional abnormalities, and microscopy showed rare focal parenchymal calcifications and a single vessel in the corpus striatum with early calcific changes. The second patient with IIAC was an infant girl who presented at age 2 months in cardiogenic shock, and after initial recovery was readmitted in the third month of life with severe heart failure, at which time cardiac MRI showed a large anterolateral and apical aneurysm of the left ventricle, with thinning of the myocardium and moderate to severe mitral regurgitation. The patient had progressively intractable heart failure and died at 4.5 months of age. Autopsy revealed a severely enlarged heart, with severe ischemic changes in the myocardium of the left ventricle and calcification within the subendocardial area. Upon microscopic examination of the arterial system, elastic arteries showed calcification primarily of the outer elastic layers, whereas muscular arteries had preferential calcification of the media with intimal proliferation, accompanied by a foreign body giant cell reaction. These findings were present in the coronary, pulmonary, and renal arteries, as well as the aorta and its branches in the neck. The coronary arteries showed luminal obstruction with near-occlusive changes in segments. Examined veins were normal. </p><p><strong><em>Intrafamilial Phenotypic Variability</em></strong></p><p>
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Le Boulanger et al. (2010) studied a nonconsanguineous French family in which a younger brother died of a condition 'strikingly reminiscent' of generalized arterial calcification of infancy at 15 months of age, whereas his older brother developed uncomplicated pseudoxanthoma elasticum (PXE; 264800) in adolescence. The younger brother had a myocardial infarction complicated by heart failure at 6 months of age; skin biopsy at 1 year of age for evaluation of a possible connective tissue disorder showed elastic fiber dystrophy, with clumped and fragmented fibers in the mid dermis, as well as calcifications on the elastic fibers and sporadically in vessel walls of the subcutis. There were no periarticular calcifications on x-ray, and serum phosphate and calcium levels were normal. At 15 months of age, he had a second, fatal MI. Autopsy showed fibrosis of the coronary arteries with calcifications involving the intima, internal elastic lamina, and media, and medium-sized arteries in the adrenal glands, pancreas, thyroid, and testes also showed extensive arterial calcification. At 28 years of age, the older brother presented for evaluation of yellowish papules on his neck; he had no cardiovascular symptoms and cardiac examination and echocardiography were normal. Skin samples from the brother with PXE showed heavy staining of mineralized mid-dermal elastic fibers, with active MGP (154870) and fetuin-A (AHSG; 138680) antibodies, and fetuin-A also showed striking staining of the subepidermal area. All arteries in autopsy samples from the brother with GACI showed the same immunohistochemical profile, as well as calcifications. </p>
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<strong>Molecular Genetics</strong>
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<p>In an infant girl with generalized arterial calcification who died at 6.5 weeks of age, Glatz et al. (2006) analyzed the gene associated with GACI1 (208000), ENPP1 (173335), but no pathogenic mutations were found. Nitschke et al. (2012) restudied this patient and identified compound heterozygosity for splice site mutations in the ABCC6 gene (603234.0015 and 603234.0029). </p><p>In a 28-year-old French man with pseudoxanthoma elasticum (PXE; 264800), who had a younger brother who died of GACI at age 15 months, Le Boulanger et al. (2010) identified compound heterozygosity for missense mutations in the known causative gene for PXE, ABCC6 (603234.0025 and 603234.0026), which were also found in heterozygosity in each of his unaffected parents, respectively. No disease-causing mutations were found in ENPP1. Although no DNA material was available from the deceased younger brother, his disease was presumed to be related to the familial ABCC6 mutations. Le Boulanger et al. (2010) concluded that GACI may represent an atypical and severe end of the vascular phenotypic spectrum of PXE. </p><p>Nitschke et al. (2012) analyzed the ABCC6 gene in 28 GACI patients from 25 unrelated families who were negative for mutation in the ENNP1 gene, as well as 2 unrelated GACI patients in whom only 1 ENNP1 mutation had been detected. They identified homozygosity or compound heterozygosity for mutations in ABCC6 in 8 unrelated GACI patients (see, e.g., 603234.0001 and 603234.0006, and 603234.0027-603234.0029), including 1 of the infant girls originally described by Glatz et al. (2006) (see 603234.0029). In 6 patients from 5 unrelated families, only 1 mutation was detected in ABCC6; the authors noted that there was no phenotypic difference between these patients and those with biallelic mutations in ABCC6, and stated that mutations in regulatory untranslated regions of ABCC6 might not have been detected by their approach. No mutation in the ABCC6 gene was found in 16 patients from 14 unrelated families, including the 2 patients who were known to carry monoallelic mutations in ENNP1. Overall, 13 different ABCC6 mutations were identified in GACI patients, all but 2 of which had previously been identified in typical PXE patients who had a much milder phenotype than the GACI patients. Based on the considerable overlap of phenotype and genotype of GACI and pseudoxanthoma elasticum, Nitschke et al. (2012) suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than 2 distinct disorders. </p>
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<strong>REFERENCES</strong>
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Cheng, K.-S., Chen, M.-R., Ruf, N., Lin, S.-P., Rutsch, F.
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<strong>Generalized arterial calcification of infancy: different clinical courses in two affected siblings.</strong>
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Am. J. Med. Genet. 136A: 210-213, 2005.
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[PubMed: 15940697]
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[Full Text: https://doi.org/10.1002/ajmg.a.30800]
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Glatz, A. C., Pawel, B. R., Hsu, D. T., Weinberg, P., Chrisant, M. R. K.
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<strong>Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation.</strong>
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Pediat. Transplant. 10: 225-233, 2006.
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[PubMed: 16573612]
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[Full Text: https://doi.org/10.1111/j.1399-3046.2005.00414.x]
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Le Boulanger, G., Labreze, C., Croue, A., Schurgers, L. J., Chassaing, N., Wittkampf, T., Rutsch, F., Martin, L.
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<strong>An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.</strong>
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Am. J. Med. Genet. 152A: 118-123, 2010.
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[PubMed: 20034067]
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[Full Text: https://doi.org/10.1002/ajmg.a.33162]
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Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M.-F., Chassaing, N., Roche, O., and 19 others.
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<strong>Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.</strong>
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Am. J. Hum. Genet. 90: 25-39, 2012.
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[PubMed: 22209248]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.11.020]
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Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M. R., Suk, A., Hohne, W., Schauer, G., Lehmann, M., Roscioli, T., Schnabel, D., Epplen, J. T., Knisely, A., and 10 others.
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<strong>Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.</strong>
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Nature Genet. 34: 379-381, 2003.
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[PubMed: 12881724]
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[Full Text: https://doi.org/10.1038/ng1221]
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Marla J. F. O'Neill : 2/8/2012
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carol : 08/07/2024<br>carol : 06/14/2022<br>joanna : 05/22/2012<br>terry : 2/15/2012<br>carol : 2/8/2012<br>carol : 2/8/2012
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