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Entry
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- #617272 - GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
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- OMIM
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<p>
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<span class="h4">#617272</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/617272"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></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="#animalModel">Animal Model</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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<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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=GLAUCOMA 3, PRIMARY CONGENITAL, E" 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=13993&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/NBK1135/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=617272[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=98976" 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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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 98976<br />
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">ICD+</a>
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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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617272
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
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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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Inheritance
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</th>
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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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<span class="mim-font">
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<a href="/geneMap/9/113?start=-3&limit=10&highlight=113">
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9p21.2
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</a>
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<span class="mim-font">
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Glaucoma 3, primary congenital, E
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<td>
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<span class="mim-font">
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<a href="/entry/617272"> 617272 </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 dominant">AD</abbr>
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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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<span class="mim-font">
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TEK
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<td>
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<span class="mim-font">
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<a href="/entry/600221"> 600221 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/617272" 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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/617272" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/617272" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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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<p />
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<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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- Glaucoma, unilateral or bilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313222</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
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Increased corneal diameter (greater than 10 mm) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313221</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span><br /> -
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Corneal edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H18.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H18.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/371.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010037</a>]</span><br /> -
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Haab striae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246965004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246965004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423258</a>]</span><br /> -
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Elevated intraocular pressure (greater than 21 mmHg) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313220</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112222000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112222000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007906" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007906</a>]</span><br /> -
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Optic nerve cupping (greater than 0.4) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313219</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12451000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12451000</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset ranging from birth to 2 years in most patients<br /> -
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Some patients have onset in later decades<br /> -
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Variable expressivity within families<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the endothelial TEK tyrosine kinase gene (TEK, <a href="/entry/600221#0005">600221.0005</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that primary congenital glaucoma-3E (GLC3E) is caused by heterozygous mutation in the TEK gene (<a href="/entry/600221">600221</a>) on chromosome 9p21.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of primary congenital glaucoma, see GLC3A (<a href="/entry/231300">231300</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> studied a multiethnic cohort of 189 unrelated families with primary congenital glaucoma (PCG) in which affected individuals had onset of disease before 3 years of age; exhibited an increased corneal diameter greater than 10 mm, accompanied by corneal edema and/or Haab striae; and had intraocular pressures (IOPs) greater than 21 mm Hg and/or optic nerve cupping greater than 0.4. Of the 10 families with a mutation in the TEK gene, disease was unilateral in 5 families and bilateral in the other 5 families. <a href="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> noted a high frequency of carriers without a typical early-onset PCG phenotype, observed in 8 (36%) of 22 mutation carriers. The authors stated that because of the geographic and historic nature of some of the samples, it was impossible to examine parents of probands carefully for evidence of glaucoma or elevated IOP, and thus it was difficult to distinguish variable expressivity clearly from reduced penetrance. However, given the high frequency of unilateral involvement, and the development of glaucoma in later decades in 2 mutation carriers, <a href="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> proposed an autosomal dominant model with variable expressivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27270174" 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 a multiethnic cohort of 189 unrelated families with primary congenital glaucoma, all of which were negative for mutation in known PCG-associated genes, <a href="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> performed exome sequencing and identified 10 heterozygous loss-of-function mutations in the TEK gene (see, e.g., <a href="/entry/600221#0005">600221.0005</a> and <a href="/entry/600221#0006">600221.0006</a>) in 10 of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27270174" 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="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> generated Tek hemizygous and conditional knockout mice and analyzed their aqueous humor outflow pathways. Confocal microscopy revealed that Tek-haploinsufficient mice developed a severely hypomorphic canal with convolutions and focal narrowing, whereas the Schlemm canal was completely absent in Tek-knockout mice, consistent with a requirement for TEK as well as gene-dosage sensitivity during Schlemm canal development. Serial histologic sections of the iridocorneal region in Tek-haploinsufficient mice showed a hypoplastic Schlemm canal and trabecular meshwork, and analysis of IOPs by rebound tonometry showed a 25% elevation compared to control mice. <a href="#1" class="mim-tip-reference" title="Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others. <strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong> J. Clin. Invest. 126: 2575-2587, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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/10.1172/JCI85830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27270174">Souma et al. (2016)</a> concluded that reduced TEK signaling causes developmental defects of aqueous humor outflow structures and correlates with elevated IOP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27270174" 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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Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others.
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<strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong>
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J. Clin. Invest. 126: 2575-2587, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27270174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27270174</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27270174[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=27270174" 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/10.1172/JCI85830" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 12/22/2016
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carol : 12/22/2016
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<strong>#</strong> 617272
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GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
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<strong>ORPHA:</strong> 98976;
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Inheritance
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9p21.2
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Glaucoma 3, primary congenital, E
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Autosomal dominant
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3
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TEK
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600221
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<p>A number sign (#) is used with this entry because of evidence that primary congenital glaucoma-3E (GLC3E) is caused by heterozygous mutation in the TEK gene (600221) on chromosome 9p21.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of primary congenital glaucoma, see GLC3A (231300).</p>
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<p>Souma et al. (2016) studied a multiethnic cohort of 189 unrelated families with primary congenital glaucoma (PCG) in which affected individuals had onset of disease before 3 years of age; exhibited an increased corneal diameter greater than 10 mm, accompanied by corneal edema and/or Haab striae; and had intraocular pressures (IOPs) greater than 21 mm Hg and/or optic nerve cupping greater than 0.4. Of the 10 families with a mutation in the TEK gene, disease was unilateral in 5 families and bilateral in the other 5 families. Souma et al. (2016) noted a high frequency of carriers without a typical early-onset PCG phenotype, observed in 8 (36%) of 22 mutation carriers. The authors stated that because of the geographic and historic nature of some of the samples, it was impossible to examine parents of probands carefully for evidence of glaucoma or elevated IOP, and thus it was difficult to distinguish variable expressivity clearly from reduced penetrance. However, given the high frequency of unilateral involvement, and the development of glaucoma in later decades in 2 mutation carriers, Souma et al. (2016) proposed an autosomal dominant model with variable expressivity. </p>
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<p>In a multiethnic cohort of 189 unrelated families with primary congenital glaucoma, all of which were negative for mutation in known PCG-associated genes, Souma et al. (2016) performed exome sequencing and identified 10 heterozygous loss-of-function mutations in the TEK gene (see, e.g., 600221.0005 and 600221.0006) in 10 of the families. </p>
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<p>Souma et al. (2016) generated Tek hemizygous and conditional knockout mice and analyzed their aqueous humor outflow pathways. Confocal microscopy revealed that Tek-haploinsufficient mice developed a severely hypomorphic canal with convolutions and focal narrowing, whereas the Schlemm canal was completely absent in Tek-knockout mice, consistent with a requirement for TEK as well as gene-dosage sensitivity during Schlemm canal development. Serial histologic sections of the iridocorneal region in Tek-haploinsufficient mice showed a hypoplastic Schlemm canal and trabecular meshwork, and analysis of IOPs by rebound tonometry showed a 25% elevation compared to control mice. Souma et al. (2016) concluded that reduced TEK signaling causes developmental defects of aqueous humor outflow structures and correlates with elevated IOP. </p>
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<strong>REFERENCES</strong>
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Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., and 23 others.
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<strong>Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.</strong>
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J. Clin. Invest. 126: 2575-2587, 2016.
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[PubMed: 27270174]
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[Full Text: https://doi.org/10.1172/JCI85830]
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Marla J. F. O'Neill : 12/22/2016
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carol : 12/22/2016
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