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Entry
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- #618196 - CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
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- OMIM
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<p>
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<span class="h4">#618196</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/618196"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS608354"> <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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</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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</a>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16702&Typ=Pat" title="Capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Capillary malformation-art… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=32266&Typ=Pat" title="EPHB4-related capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EPHB4-related capillary ma… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK52764/" 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=618196[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137667" title="Capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Capillary malformation-art…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=693912" title="EPHB4-related capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">EPHB4-related capillary ma…</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 137667, 693912<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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618196
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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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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
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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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<tr class="active">
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Location
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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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<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/7/517?start=-3&limit=10&highlight=517">
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7q22.1
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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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Capillary malformation-arteriovenous malformation 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/618196"> 618196 </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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</td>
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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EPHB4
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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/600011"> 600011 </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>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/618196" 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="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS608354" 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')">
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<span class="caret"></span>
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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/618196" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/618196" 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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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged head at birth (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748671</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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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> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Arteriovenous malformations (cutaneous, subcutaneous, muscular, bony) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748674&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748674</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24551003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24551003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11071001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11071001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234141001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234141001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403966009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403966009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14156004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14156004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233982006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233982006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I77.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I77.0</a>]</span><br /> -
|
|
Parkes Weber lesions (extremities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748675</a>]</span><br /> -
|
|
Vein of Galen aneurysmal malformation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253194008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253194008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030713</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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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> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Capillary malformations (head, neck, trunk, extremities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748672</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234118009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234118009</a>]</span><br /> -
|
|
Telangiectases (lips, perioral area, upper thorax) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748673</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> -
|
|
Bier spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238811006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238811006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0406529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0406529</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
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|
|
</div>
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|
|
</div>
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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">
|
|
|
|
- Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ephrin receptor EphB4 gene (EPHB4, <a href="/entry/600011#0003">600011.0003</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Capillary malformation-arteriovenous malformation
|
|
- <a href="/phenotypicSeries/PS608354">PS608354</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/314?start=-3&limit=10&highlight=314"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608354"> Capillary malformation-arteriovenous malformation 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608354"> 608354 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139150"> RASA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139150"> 139150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/517?start=-3&limit=10&highlight=517"> 7q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618196"> Capillary malformation-arteriovenous malformation 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618196"> 618196 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600011"> EPHB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600011"> 600011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
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|
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<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-2 (CMAVM2) is caused by heterozygous mutation in the EPHB4 gene (<a href="/entry/600011">600011</a>) on chromosome 7q22.</p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
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</div>
|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
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<p>Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients (<a href="#1" class="mim-tip-reference" title="Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others. <strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong> Circulation 136: 1037-1048, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.116.026886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28687708">Amyere et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28687708" 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 discussion of genetic heterogeneity of CMAVM, see <a href="/entry/608354">608354</a>.</p>
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<p><a href="#3" class="mim-tip-reference" title="Yu, J.,Streicher, J. L., Medne, L., Krantz, I. D., Yan, A. C. <strong>EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report.</strong> Pediat. Derm. 34: e227-e230, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28730721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28730721</a>] [<a href="https://doi.org/10.1111/pde.13208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28730721">Yu et al. (2017)</a> reported an 8-year-old white boy who had multiple capillary malformations since infancy. Clinical examination showed round and oval vascular macules and patches, most of which had a peripheral blanched halo and were located on the head, neck, trunk, and extremities. MRI and angiography of the brain, neck, spine, chest, abdomen, and pelvis did not reveal any arteriovenous malformations or arteriovenous fistulas (AVFs). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28730721" 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="#1" class="mim-tip-reference" title="Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others. <strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong> Circulation 136: 1037-1048, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.116.026886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28687708">Amyere et al. (2017)</a> analyzed clinical data from 110 individuals with a mutation in the EPHB4 gene, including 54 CMAVM probands and 56 relatives. Penetrance was 93%, with 8 unaffected mutation carriers. Isolated multifocal CMs were observed in 34 (63%) of the families. In the remaining families, 1 or more individuals had an AVM in addition to CMs. All 102 affected individuals showed pink-to-red cutaneous CMs, usually multifocal, that were present at birth or appeared later during childhood or adolescence, and were localized on the extremities, trunk, or head and neck. Size varied from pinpoint to large lesions, up to 15 cm in diameter; the borders were usually geographic. The stains were homogeneous or telangiectatic, sometimes with a pale central zone. Bier spots were noted in 13 (12%) of the patients, and 16 (15%) had telangiectases, especially on upper thorax and lips or periorally. Only a few patients had recurrent epistaxis. Fast-flow lesions were present in 20 affected individuals (18%), and included 12 AVMs, 8 Parkes Weber lesions, and 1 AVF. There were 3 central nervous system lesions, including 2 VGAMs and 1 intraspinal AVF; 1 additional VGAM was identified in a fetus whose father carried an EPHB4 mutation, but fetal DNA was not available for analysis. The other AVMs were located in the face in 8 patients and in the extremities in 1. One patient had 2 AVMs. Four Parkes Weber lesions were found in the arms and 4 in the legs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28687708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Vivanti, A., Ozanne, A., Grondin, C., Saliou, G., Quevarec, L., Maurey, H., Aubourg, P., Benachi, A., Gut, M., Gut, I., Martinovic, J., Senat, M. C., Tawk, M., Melki, J. <strong>Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.</strong> Brain 141: 979-988, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29444212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29444212</a>] [<a href="https://doi.org/10.1093/brain/awy020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29444212">Vivanti et al. (2018)</a> studied 5 families in which the proband presented with VGAM and was heterozygous for a mutation in the EPHB4 gene. Associated CMs were observed in 2 of the patients. In 4 patients, the head circumference at birth was in the 90th to 97th percentile; only 1 had cardiac failure, which was stable with medical treatment. Reduced penetrance was demonstrated in 3 families, in which carrier parents were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29444212" 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 large 5-generation family (CM-13-OH) with CMAVM, <a href="#1" class="mim-tip-reference" title="Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others. <strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong> Circulation 136: 1037-1048, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.116.026886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28687708">Amyere et al. (2017)</a> performed genomewide linkage analysis and detected 2 peaks with maximum lod scores of 2.5 and 2.8, on chromosomes 5 and 7, spanning 74.2 Mb and 59.1 Mb, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28687708" 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>The transmission pattern of CMAVM2 in the patients reported by <a href="#3" class="mim-tip-reference" title="Yu, J.,Streicher, J. L., Medne, L., Krantz, I. D., Yan, A. C. <strong>EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report.</strong> Pediat. Derm. 34: e227-e230, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28730721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28730721</a>] [<a href="https://doi.org/10.1111/pde.13208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28730721">Yu et al. (2017)</a> and <a href="#1" class="mim-tip-reference" title="Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others. <strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong> Circulation 136: 1037-1048, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.116.026886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28687708">Amyere et al. (2017)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28687708+28730721" 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 8-year-old white boy with multiple capillary malformations (CMs), who was negative for mutation in the RASA1 gene (<a href="/entry/139150">139150</a>), <a href="#3" class="mim-tip-reference" title="Yu, J.,Streicher, J. L., Medne, L., Krantz, I. D., Yan, A. C. <strong>EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report.</strong> Pediat. Derm. 34: e227-e230, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28730721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28730721</a>] [<a href="https://doi.org/10.1111/pde.13208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28730721">Yu et al. (2017)</a> performed whole-exome sequencing (WES) and identified heterozygosity for a de novo missense mutation in the EPHB4 gene (D802G; <a href="/entry/600011#0003">600011.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28730721" 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>From a cohort of 365 index patients with CMAVM, <a href="#1" class="mim-tip-reference" title="Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others. <strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong> Circulation 136: 1037-1048, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.116.026886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28687708">Amyere et al. (2017)</a> identified heterozygosity for 47 distinct mutations in the EPHB4 gene in 54 probands (see, e.g., <a href="/entry/600011#0004">600011.0004</a>-<a href="/entry/600011#0008">600011.0008</a>). The mutations were scattered all along the EPHB4 gene, and there was no genotype/phenotype correlation according to position or type of mutation; thus, the authors concluded that all of the mutations resulted in haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28687708" 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 cohort of 19 probands with VGAM, negative for mutation in 5 vascular malformation-associated genes, <a href="#2" class="mim-tip-reference" title="Vivanti, A., Ozanne, A., Grondin, C., Saliou, G., Quevarec, L., Maurey, H., Aubourg, P., Benachi, A., Gut, M., Gut, I., Martinovic, J., Senat, M. C., Tawk, M., Melki, J. <strong>Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.</strong> Brain 141: 979-988, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29444212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29444212</a>] [<a href="https://doi.org/10.1093/brain/awy020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29444212">Vivanti et al. (2018)</a> performed WES and identified heterozygous mutations in the EPHB4 gene in 3 probands (<a href="/entry/600011#0009">600011.0009</a>-<a href="/entry/600011#0011">600011.0011</a>), 2 of whom also exhibited cutaneous CMs. Targeted exome sequencing or Sanger sequencing of EPHB4 in 32 additional probands with VGAM identified 2 more unrelated patients with heterozygous mutations (see, e.g., <a href="/entry/600011#0012">600011.0012</a>). In 1 of the 5 families, the mutation was shown to have arisen de novo; in 1 family, the carrier mother exhibited only CMs; and in the remaining 3 families, the carrier parent was unaffected. The authors suggested that other genes play a role in the clinical expression of the disease phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29444212" 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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Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others.
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Circulation 136: 1037-1048, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28687708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28687708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28687708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vivanti, A., Ozanne, A., Grondin, C., Saliou, G., Quevarec, L., Maurey, H., Aubourg, P., Benachi, A., Gut, M., Gut, I., Martinovic, J., Senat, M. C., Tawk, M., Melki, J.
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Brain 141: 979-988, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29444212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29444212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29444212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yu, J.,Streicher, J. L., Medne, L., Krantz, I. D., Yan, A. C.
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<strong>EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report.</strong>
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Pediat. Derm. 34: e227-e230, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28730721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28730721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28730721" 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/pde.13208" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 11/20/2018
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carol : 12/01/2022
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carol : 11/27/2018<br>carol : 11/26/2018<br>carol : 11/21/2018
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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
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<strong>ORPHA:</strong> 137667, 693912;
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Phenotype
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Phenotype <br /> MIM number
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7q22.1
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Capillary malformation-arteriovenous malformation 2
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618196
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Autosomal dominant
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EPHB4
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600011
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<p>A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-2 (CMAVM2) is caused by heterozygous mutation in the EPHB4 gene (600011) on chromosome 7q22.</p>
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<p>Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients (Amyere et al., 2017). </p><p>For a discussion of genetic heterogeneity of CMAVM, see 608354.</p>
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<p>Yu et al. (2017) reported an 8-year-old white boy who had multiple capillary malformations since infancy. Clinical examination showed round and oval vascular macules and patches, most of which had a peripheral blanched halo and were located on the head, neck, trunk, and extremities. MRI and angiography of the brain, neck, spine, chest, abdomen, and pelvis did not reveal any arteriovenous malformations or arteriovenous fistulas (AVFs). </p><p>Amyere et al. (2017) analyzed clinical data from 110 individuals with a mutation in the EPHB4 gene, including 54 CMAVM probands and 56 relatives. Penetrance was 93%, with 8 unaffected mutation carriers. Isolated multifocal CMs were observed in 34 (63%) of the families. In the remaining families, 1 or more individuals had an AVM in addition to CMs. All 102 affected individuals showed pink-to-red cutaneous CMs, usually multifocal, that were present at birth or appeared later during childhood or adolescence, and were localized on the extremities, trunk, or head and neck. Size varied from pinpoint to large lesions, up to 15 cm in diameter; the borders were usually geographic. The stains were homogeneous or telangiectatic, sometimes with a pale central zone. Bier spots were noted in 13 (12%) of the patients, and 16 (15%) had telangiectases, especially on upper thorax and lips or periorally. Only a few patients had recurrent epistaxis. Fast-flow lesions were present in 20 affected individuals (18%), and included 12 AVMs, 8 Parkes Weber lesions, and 1 AVF. There were 3 central nervous system lesions, including 2 VGAMs and 1 intraspinal AVF; 1 additional VGAM was identified in a fetus whose father carried an EPHB4 mutation, but fetal DNA was not available for analysis. The other AVMs were located in the face in 8 patients and in the extremities in 1. One patient had 2 AVMs. Four Parkes Weber lesions were found in the arms and 4 in the legs. </p><p>Vivanti et al. (2018) studied 5 families in which the proband presented with VGAM and was heterozygous for a mutation in the EPHB4 gene. Associated CMs were observed in 2 of the patients. In 4 patients, the head circumference at birth was in the 90th to 97th percentile; only 1 had cardiac failure, which was stable with medical treatment. Reduced penetrance was demonstrated in 3 families, in which carrier parents were unaffected. </p>
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<p>In a large 5-generation family (CM-13-OH) with CMAVM, Amyere et al. (2017) performed genomewide linkage analysis and detected 2 peaks with maximum lod scores of 2.5 and 2.8, on chromosomes 5 and 7, spanning 74.2 Mb and 59.1 Mb, respectively. </p>
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<p>The transmission pattern of CMAVM2 in the patients reported by Yu et al. (2017) and Amyere et al. (2017) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In an 8-year-old white boy with multiple capillary malformations (CMs), who was negative for mutation in the RASA1 gene (139150), Yu et al. (2017) performed whole-exome sequencing (WES) and identified heterozygosity for a de novo missense mutation in the EPHB4 gene (D802G; 600011.0003). </p><p>From a cohort of 365 index patients with CMAVM, Amyere et al. (2017) identified heterozygosity for 47 distinct mutations in the EPHB4 gene in 54 probands (see, e.g., 600011.0004-600011.0008). The mutations were scattered all along the EPHB4 gene, and there was no genotype/phenotype correlation according to position or type of mutation; thus, the authors concluded that all of the mutations resulted in haploinsufficiency. </p><p>In a cohort of 19 probands with VGAM, negative for mutation in 5 vascular malformation-associated genes, Vivanti et al. (2018) performed WES and identified heterozygous mutations in the EPHB4 gene in 3 probands (600011.0009-600011.0011), 2 of whom also exhibited cutaneous CMs. Targeted exome sequencing or Sanger sequencing of EPHB4 in 32 additional probands with VGAM identified 2 more unrelated patients with heterozygous mutations (see, e.g., 600011.0012). In 1 of the 5 families, the mutation was shown to have arisen de novo; in 1 family, the carrier mother exhibited only CMs; and in the remaining 3 families, the carrier parent was unaffected. The authors suggested that other genes play a role in the clinical expression of the disease phenotype. </p>
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<strong>REFERENCES</strong>
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Amyere, M., Revencu, N., Helaers, R., Pairet, E., Baselga, E., Cordisco, M., Chung, W., Dubois, J., Lacour, J.-P., Martorell, L., Mazereeuw-Hautier, J., Pyeritz, R. E., and 33 others.
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<strong>Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.</strong>
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Circulation 136: 1037-1048, 2017.
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[PubMed: 28687708]
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[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.116.026886]
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Vivanti, A., Ozanne, A., Grondin, C., Saliou, G., Quevarec, L., Maurey, H., Aubourg, P., Benachi, A., Gut, M., Gut, I., Martinovic, J., Senat, M. C., Tawk, M., Melki, J.
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<strong>Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.</strong>
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Brain 141: 979-988, 2018.
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[PubMed: 29444212]
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[Full Text: https://doi.org/10.1093/brain/awy020]
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Yu, J.,Streicher, J. L., Medne, L., Krantz, I. D., Yan, A. C.
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<strong>EPHB4 mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report.</strong>
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Pediat. Derm. 34: e227-e230, 2017. Note: Electronic Article.
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[PubMed: 28730721]
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[Full Text: https://doi.org/10.1111/pde.13208]
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carol : 12/01/2022<br>carol : 11/27/2018<br>carol : 11/26/2018<br>carol : 11/21/2018
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Thank you in advance for your generous support, <br />
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