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Entry
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- #608354 - CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1
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- OMIM
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<p>
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<span class="h4">#608354</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/608354"><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="#pathogenesis">Pathogenesis</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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=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=523&Typ=Pat" title="Angioosteohypertrophic syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Angioosteohypertrophic syn… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=32265&Typ=Pat" title="RASA1-related capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">RASA1-related capillary ma… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12004&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Parkes Weber syndrome </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.diseaseinfosearch.org/x/7888" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="#mimMedlinePlusGeneticsFold" id="mimMedlinePlusGeneticsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Consumer-friendly information about the effects of genetic variation on human health."><span id="mimMedlinePlusGeneticsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>MedlinePlus Genetics</div>
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<div id="mimMedlinePlusGeneticsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome" title="Capillary malformation-arteriovenous malformation syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">Capillary malformation-art… </a></div><div style="margin-left: 0.5em;"><a href="https://medlineplus.gov/genetics/condition/parkes-weber-syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">Parkes Weber syndrome </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608354[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=2346" title="Angioosteohypertrophic syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Angioosteohypertrophic syn…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=693907" title="RASA1-related capillary malformation-arteriovenous malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">RASA1-related capillary ma…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Parkes Weber syndrome</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>SNOMEDCT:</strong> 703533007<br />
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<strong>ORPHA:</strong> 137667, 2346, 693907, 90307<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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608354
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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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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/5/314?start=-3&limit=10&highlight=314">
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5q14.3
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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 1
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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/608354"> 608354 </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>
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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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RASA1
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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/139150"> 139150 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/608354" 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>
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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>
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</div>
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<div class="btn-group">
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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/608354" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608354" 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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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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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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</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">
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<strong> CARDIOVASCULAR </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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<div>
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<span class="h5 mim-font">
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<em> Vascular </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Arteriovenous malformation <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> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003857</a>, <a href="https://bioportal.bioontology.org/search?q=C0334533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0334533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100026</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100026" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100026</a>]</span><br /> -
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Arteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227399</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128617001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128617001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439470001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439470001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004947</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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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </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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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Capillary malformations, commonly on face or neck, rarely on mucosa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230317</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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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </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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- In most cases capillary lesions are multifocal at birth and may increase in number with age<br /> -
|
|
Maculae can be a few millimeters to several centimeters in diameter and can be surrounded by pale halo with punctate red spot in middle<br /> -
|
|
Maculae are homogeneous or telangiectatic and may vary in color from pale pink to red, purple or brown<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">
|
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<strong> MOLECULAR BASIS </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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- Caused by mutation in the RAS p21 protein activator 1 gene (RASA1, <a href="/entry/139150#0004">139150.0004</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
|
Capillary malformation-arteriovenous malformation
|
|
- <a href="/phenotypicSeries/PS608354">PS608354</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
|
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<tr>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<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>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/5/314?start=-3&limit=10&highlight=314"> 5q14.3 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/608354"> Capillary malformation-arteriovenous malformation 1 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<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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<a href="/entry/608354"> 608354 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/139150"> RASA1 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/139150"> 139150 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/7/517?start=-3&limit=10&highlight=517"> 7q22.1 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/618196"> Capillary malformation-arteriovenous malformation 2 </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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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="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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<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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<a href="/entry/600011"> EPHB4 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600011"> 600011 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<p>A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-1 (CMAVM1) is caused by heterozygous mutation in the RASA1 gene (<a href="/entry/139150">139150</a>) on chromosome 5q14.</p>
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<p>Capillary malformation-arteriovenous malformation-1 (CMAVM1) is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (<a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al., 2003</a>; <a href="#9" class="mim-tip-reference" title="Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others. <strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong> Hum. Mutat. 34: 1632-1641, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24038909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24038909</a>] [<a href="https://doi.org/10.1002/humu.22431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24038909">Revencu et al., 2013</a>; <a href="#6" class="mim-tip-reference" title="Johnson, C. M., Navarro, O. M. <strong>Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.</strong> Pediat. Radiol. 47: 1196-1208, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28779187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28779187</a>] [<a href="https://doi.org/10.1007/s00247-017-3906-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28779187">Johnson and Navarro, 2017</a>). Parkes Weber syndrome is characterized by a cutaneous blush with underlying multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (<a href="#8" class="mim-tip-reference" title="Mulliken, J. B., Young, A. E. (eds.). <strong>Vascular Birthmarks: Hemangiomas and Vascular Malformations.</strong> Philadelphia: W. B. Saunders Co. 1988."None>Mulliken and Young, 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14639529+24038909+28779187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Capillary Malformation-Arteriovenous Malformation</em></strong></p><p>
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Also see CMAVM2 (<a href="/entry/618196">618196</a>), caused by mutation in the EPHB4 gene on chromosome 7q22.</p>
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<p>Capillary malformation, or 'port-wine stain,' (see <a href="/entry/163000">163000</a>) is a common cutaneous vascular anomaly that appears as a red macular stain that darkens over years. Six families reported by <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> manifested atypical capillary malformations that were multiple, small, round to oval in shape, and pinkish red in color. In these 6 families the capillary malformations were associated with arteriovenous malformation, arteriovenous fistula (AVF), or Parkes Weber syndrome. <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> named this phenotype caused by RASA1 mutations 'capillary malformation-arteriovenous malformation' (CMAVM). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14639529" 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="Boon, L. M., Mulliken, J. B., Vikkula, M. <strong>RASA1: variable phenotype with capillary and arteriovenous malformations.</strong> Curr. Opin. Genet. Dev. 15: 265-269, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15917201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15917201</a>] [<a href="https://doi.org/10.1016/j.gde.2005.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15917201">Boon et al. (2005)</a> provided a review of CMAVM associated with mutations in the RASA1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15917201" 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 study of 100 patients with CMAVM, <a href="#9" class="mim-tip-reference" title="Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others. <strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong> Hum. Mutat. 34: 1632-1641, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24038909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24038909</a>] [<a href="https://doi.org/10.1002/humu.22431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24038909">Revencu et al. (2013)</a> observed that several had cutaneous areas of numerous white pale halos of 1-cm diameter with a red punctate spot in the middle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24038909" 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 study of 13 families with familial capillary malformation, <a href="#3" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Watanabe, S., Grynberg, H., Mulliken, J. B., Vikkula, M. <strong>Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.</strong> Europ. J. Hum. Genet. 10: 375-380, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080389</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12080389">Eerola et al. (2002)</a> identified a susceptibility locus, which they termed CMC1, on 5q14-q21. In a later study, <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> used a new family to narrow the locus to 5 cM. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12080389+14639529" 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 CMAVM1 in the families reported by <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14639529" 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 the 5-cM interval to which <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> mapped the CMC1 locus, 8 characterized genes were found, 3 of which were considered to be candidates of functional interest: RASA1 (<a href="/entry/139150">139150</a>), EDIL3 (<a href="/entry/606018">606018</a>), and MEF2C (<a href="/entry/600662">600662</a>). They screened the RASA1 gene, encoding p120-RasGAP, for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in 6 families with CMAVM (see, e.g., <a href="/entry/139150#0004">139150.0004</a>-<a href="/entry/139150#0005">139150.0005</a>). <a href="#2" class="mim-tip-reference" title="Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M. <strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong> Am. J. Hum. Genet. 73: 1240-1249, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/379793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14639529">Eerola et al. (2003)</a> suggested that the phenotypic variability could be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14639529" 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 affected members of 3 Ashkenazi Jewish families with capillary malformations, <a href="#5" class="mim-tip-reference" title="Hershkovitz, D., Bercovich, D., Sprecher, E., Lapidot, M. <strong>RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.</strong> Brit. J. Derm. 158: 1035-1040, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18363760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18363760</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2008.08493.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18363760">Hershkovitz et al. (2008)</a> identified heterozygous mutations in the RASA1 gene (<a href="/entry/139150#0006">139150.0006</a>-<a href="/entry/139150#0008">139150.0008</a>). An arteriovenous malformation was only identified in 1 of the families, suggesting that the phenotypic spectrum of RASA1-related CMAVM can include patients with only capillary malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18363760" 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 combined retrospective and prospective study of 261 individuals with CMAVM and related phenotypes, <a href="#9" class="mim-tip-reference" title="Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others. <strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong> Hum. Mutat. 34: 1632-1641, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24038909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24038909</a>] [<a href="https://doi.org/10.1002/humu.22431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24038909">Revencu et al. (2013)</a> screened for mutations in the RASA1 gene and identified 58 in 68 of the 100 individuals with CMAVM and in none in those with related disorders, including 100 with common CMs, 37 with Sturge-Weber syndrome, and 24 with AVMs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24038909" 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="#9" class="mim-tip-reference" title="Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others. <strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong> Hum. Mutat. 34: 1632-1641, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24038909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24038909</a>] [<a href="https://doi.org/10.1002/humu.22431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24038909">Revencu et al. (2013)</a> analyzed DNA from a neurofibroma that had developed in a congenital Parkes-Weber lesion in a CMAVM patient with a previously confirmed germline mutation in the RASA1 gene. The DHPLC elution profile was indicative of loss of function of the wildtype allele in the tissue. SNP array showed mosaic loss of chromosome 5q, including the RASA1 gene, and part of chromosome 22, including the NF2 gene (<a href="/entry/607379">607379</a>). Sequencing of the NF2 gene revealed a nonsense mutation in the tissue, but not in the blood. The authors suggested that the 2 hits in the NF2 gene explain the development of the neurofibroma, and they speculated that the somatic loss of 5q, including the RASA1 gene, is involved in the pathogenesis of the Parkes Weber lesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24038909" 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>Another inherited vascular malformation, cerebral capillary malformation (CCM; <a href="/entry/116860">116860</a>), has also been related to misregulated Ras signaling. The mutated protein, KRIT1 (<a href="/entry/604214">604214</a>) was originally identified as a binding partner of Rap1a (<a href="/entry/179520">179520</a>), an antagonist of Ras transformation. KRIT1 has also been shown to bind ICAP1 (<a href="/entry/607153">607153</a>), a protein that links integrins and the actin cytoskeleton, which implies a process of integrin-signaling-mediated cellular adhesion in the pathogenesis of CCM. CMAVM and CCM may be due to similar cellular processes, since p120-RasGAP can bind Rap1a, which has an important role in integrin-mediated cellular adhesion. It is noteworthy that in certain families with CCM and mutations in KRIT1, some members also have cutaneous lesions characterized as hyperkeratotic capillary-venous malformations (<a href="#7" class="mim-tip-reference" title="Labauge, P., Enjolras, O., Bonerandi, J.-J., Laberge, S., Dandurand, M., Joujoux, J.-M., Tournier-Lasserve, E. <strong>An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.</strong> Ann. Neurol. 45: 250-254, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9989629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9989629</a>] [<a href="https://doi.org/10.1002/1531-8249(199902)45:2<250::aid-ana17>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9989629">Labauge et al., 1999</a>; <a href="#4" class="mim-tip-reference" title="Eerola, I., Plate, K. H., Spiegel, R., Boon, L. M., Mulliken, J. B., Vikkula, M. <strong>KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.</strong> Hum. Molec. Genet. 9: 1351-1355, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814716</a>] [<a href="https://doi.org/10.1093/hmg/9.9.1351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10814716">Eerola et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9989629+10814716" 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>Parkes Weber syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia (<a href="/entry/187300">187300</a>), Sturge-Weber syndrome (<a href="/entry/185300">185300</a>), Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome (<a href="/entry/149000">149000</a>).</p>
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Boon, L. M., Mulliken, J. B., Vikkula, M.
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<strong>RASA1: variable phenotype with capillary and arteriovenous malformations.</strong>
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Curr. Opin. Genet. Dev. 15: 265-269, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15917201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15917201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15917201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.gde.2005.03.004" target="_blank">Full Text</a>]
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Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M.
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<strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong>
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Am. J. Hum. Genet. 73: 1240-1249, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14639529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14639529</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14639529[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=14639529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/379793" target="_blank">Full Text</a>]
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Eerola, I., Boon, L. M., Watanabe, S., Grynberg, H., Mulliken, J. B., Vikkula, M.
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<strong>Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.</strong>
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Europ. J. Hum. Genet. 10: 375-380, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12080389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200817" target="_blank">Full Text</a>]
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Eerola, I., Plate, K. H., Spiegel, R., Boon, L. M., Mulliken, J. B., Vikkula, M.
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<strong>KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.</strong>
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Hum. Molec. Genet. 9: 1351-1355, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10814716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10814716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10814716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.9.1351" target="_blank">Full Text</a>]
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Hershkovitz, D., Bercovich, D., Sprecher, E., Lapidot, M.
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<strong>RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.</strong>
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Brit. J. Derm. 158: 1035-1040, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18363760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18363760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18363760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.2008.08493.x" target="_blank">Full Text</a>]
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Johnson, C. M., Navarro, O. M.
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<strong>Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.</strong>
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Pediat. Radiol. 47: 1196-1208, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28779187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28779187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28779187" 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/10.1007/s00247-017-3906-x" target="_blank">Full Text</a>]
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Labauge, P., Enjolras, O., Bonerandi, J.-J., Laberge, S., Dandurand, M., Joujoux, J.-M., Tournier-Lasserve, E.
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<strong>An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.</strong>
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Ann. Neurol. 45: 250-254, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9989629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9989629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9989629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(199902)45:2<250::aid-ana17>3.0.co;2-v" target="_blank">Full Text</a>]
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Mulliken, J. B., Young, A. E. (eds.).
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<strong>Vascular Birthmarks: Hemangiomas and Vascular Malformations.</strong>
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Philadelphia: W. B. Saunders Co. 1988.
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Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others.
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<strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong>
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Hum. Mutat. 34: 1632-1641, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24038909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24038909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24038909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22431" target="_blank">Full Text</a>]
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Ingrid M. Wentzensen - updated : 7/16/2014
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Cassandra L. Kniffin - updated : 2/16/2009
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Victor A. McKusick : 12/19/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 10/31/2023
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carol : 06/17/2021<br>alopez : 06/16/2021<br>joanna : 05/13/2021<br>carol : 11/27/2018<br>carol : 11/26/2018<br>carol : 11/21/2018<br>carol : 11/20/2018<br>carol : 11/19/2018<br>joanna : 07/26/2016<br>carol : 07/22/2014<br>carol : 7/17/2014<br>carol : 7/17/2014<br>carol : 7/16/2014<br>carol : 10/31/2013<br>carol : 10/16/2013<br>joanna : 6/10/2011<br>wwang : 2/20/2009<br>ckniffin : 2/16/2009<br>ckniffin : 2/16/2009<br>alopez : 12/19/2003<br>alopez : 12/19/2003
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<strong>#</strong> 608354
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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1
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<em>Alternative titles; symbols</em>
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CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM
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<strong>SNOMEDCT:</strong> 703533007;
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<strong>ORPHA:</strong> 137667, 2346, 693907, 90307;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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5q14.3
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<span class="mim-font">
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Capillary malformation-arteriovenous malformation 1
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<span class="mim-font">
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608354
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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RASA1
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<span class="mim-font">
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139150
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-1 (CMAVM1) is caused by heterozygous mutation in the RASA1 gene (139150) on chromosome 5q14.</p>
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<strong>Description</strong>
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<p>Capillary malformation-arteriovenous malformation-1 (CMAVM1) is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017). Parkes Weber syndrome is characterized by a cutaneous blush with underlying multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988). </p><p><strong><em>Genetic Heterogeneity of Capillary Malformation-Arteriovenous Malformation</em></strong></p><p>
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Also see CMAVM2 (618196), caused by mutation in the EPHB4 gene on chromosome 7q22.</p>
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<strong>Clinical Features</strong>
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<p>Capillary malformation, or 'port-wine stain,' (see 163000) is a common cutaneous vascular anomaly that appears as a red macular stain that darkens over years. Six families reported by Eerola et al. (2003) manifested atypical capillary malformations that were multiple, small, round to oval in shape, and pinkish red in color. In these 6 families the capillary malformations were associated with arteriovenous malformation, arteriovenous fistula (AVF), or Parkes Weber syndrome. Eerola et al. (2003) named this phenotype caused by RASA1 mutations 'capillary malformation-arteriovenous malformation' (CMAVM). </p><p>Boon et al. (2005) provided a review of CMAVM associated with mutations in the RASA1 gene. </p><p>In a study of 100 patients with CMAVM, Revencu et al. (2013) observed that several had cutaneous areas of numerous white pale halos of 1-cm diameter with a red punctate spot in the middle. </p>
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<strong>Mapping</strong>
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<p>In a study of 13 families with familial capillary malformation, Eerola et al. (2002) identified a susceptibility locus, which they termed CMC1, on 5q14-q21. In a later study, Eerola et al. (2003) used a new family to narrow the locus to 5 cM. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CMAVM1 in the families reported by Eerola et al. (2003) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In the 5-cM interval to which Eerola et al. (2003) mapped the CMC1 locus, 8 characterized genes were found, 3 of which were considered to be candidates of functional interest: RASA1 (139150), EDIL3 (606018), and MEF2C (600662). They screened the RASA1 gene, encoding p120-RasGAP, for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in 6 families with CMAVM (see, e.g., 139150.0004-139150.0005). Eerola et al. (2003) suggested that the phenotypic variability could be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. </p><p>In affected members of 3 Ashkenazi Jewish families with capillary malformations, Hershkovitz et al. (2008) identified heterozygous mutations in the RASA1 gene (139150.0006-139150.0008). An arteriovenous malformation was only identified in 1 of the families, suggesting that the phenotypic spectrum of RASA1-related CMAVM can include patients with only capillary malformations. </p><p>In a combined retrospective and prospective study of 261 individuals with CMAVM and related phenotypes, Revencu et al. (2013) screened for mutations in the RASA1 gene and identified 58 in 68 of the 100 individuals with CMAVM and in none in those with related disorders, including 100 with common CMs, 37 with Sturge-Weber syndrome, and 24 with AVMs. </p><p>Revencu et al. (2013) analyzed DNA from a neurofibroma that had developed in a congenital Parkes-Weber lesion in a CMAVM patient with a previously confirmed germline mutation in the RASA1 gene. The DHPLC elution profile was indicative of loss of function of the wildtype allele in the tissue. SNP array showed mosaic loss of chromosome 5q, including the RASA1 gene, and part of chromosome 22, including the NF2 gene (607379). Sequencing of the NF2 gene revealed a nonsense mutation in the tissue, but not in the blood. The authors suggested that the 2 hits in the NF2 gene explain the development of the neurofibroma, and they speculated that the somatic loss of 5q, including the RASA1 gene, is involved in the pathogenesis of the Parkes Weber lesion. </p>
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<strong>Pathogenesis</strong>
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<p>Another inherited vascular malformation, cerebral capillary malformation (CCM; 116860), has also been related to misregulated Ras signaling. The mutated protein, KRIT1 (604214) was originally identified as a binding partner of Rap1a (179520), an antagonist of Ras transformation. KRIT1 has also been shown to bind ICAP1 (607153), a protein that links integrins and the actin cytoskeleton, which implies a process of integrin-signaling-mediated cellular adhesion in the pathogenesis of CCM. CMAVM and CCM may be due to similar cellular processes, since p120-RasGAP can bind Rap1a, which has an important role in integrin-mediated cellular adhesion. It is noteworthy that in certain families with CCM and mutations in KRIT1, some members also have cutaneous lesions characterized as hyperkeratotic capillary-venous malformations (Labauge et al., 1999; Eerola et al., 2000). </p>
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<strong>History</strong>
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<p>Parkes Weber syndrome was described by the same F. Parkes Weber (1863-1962) whose name is also attached to hereditary hemorrhagic telangiectasia (187300), Sturge-Weber syndrome (185300), Weber-Christian disease, and Klippel-Trenaunay-Weber syndrome (149000).</p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Boon, L. M., Mulliken, J. B., Vikkula, M.
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<strong>RASA1: variable phenotype with capillary and arteriovenous malformations.</strong>
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Curr. Opin. Genet. Dev. 15: 265-269, 2005.
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[PubMed: 15917201]
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[Full Text: https://doi.org/10.1016/j.gde.2005.03.004]
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<p class="mim-text-font">
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Eerola, I., Boon, L. M., Mulliken, J. B., Burrows, P. E., Dompmartin, A., Watanabe, S., Vanwijck, R., Vikkula, M.
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<strong>Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.</strong>
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Am. J. Hum. Genet. 73: 1240-1249, 2003.
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[PubMed: 14639529]
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[Full Text: https://doi.org/10.1086/379793]
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<li>
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<p class="mim-text-font">
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Eerola, I., Boon, L. M., Watanabe, S., Grynberg, H., Mulliken, J. B., Vikkula, M.
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<strong>Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.</strong>
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Europ. J. Hum. Genet. 10: 375-380, 2002.
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[PubMed: 12080389]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200817]
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<p class="mim-text-font">
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Eerola, I., Plate, K. H., Spiegel, R., Boon, L. M., Mulliken, J. B., Vikkula, M.
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<strong>KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.</strong>
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Hum. Molec. Genet. 9: 1351-1355, 2000.
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[PubMed: 10814716]
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[Full Text: https://doi.org/10.1093/hmg/9.9.1351]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hershkovitz, D., Bercovich, D., Sprecher, E., Lapidot, M.
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<strong>RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.</strong>
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Brit. J. Derm. 158: 1035-1040, 2008.
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[PubMed: 18363760]
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[Full Text: https://doi.org/10.1111/j.1365-2133.2008.08493.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Johnson, C. M., Navarro, O. M.
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<strong>Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.</strong>
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Pediat. Radiol. 47: 1196-1208, 2017.
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[PubMed: 28779187]
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[Full Text: https://doi.org/10.1007/s00247-017-3906-x]
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</p>
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<li>
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<p class="mim-text-font">
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Labauge, P., Enjolras, O., Bonerandi, J.-J., Laberge, S., Dandurand, M., Joujoux, J.-M., Tournier-Lasserve, E.
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<strong>An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.</strong>
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Ann. Neurol. 45: 250-254, 1999.
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[PubMed: 9989629]
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[Full Text: https://doi.org/10.1002/1531-8249(199902)45:2<250::aid-ana17>3.0.co;2-v]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mulliken, J. B., Young, A. E. (eds.).
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<strong>Vascular Birthmarks: Hemangiomas and Vascular Malformations.</strong>
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Philadelphia: W. B. Saunders Co. 1988.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Revencu, N., Boon, L. M., Mendola, A., Cordisco, M. R., Dubois, J., Clapuyt, P., Hammer, F., Amor, D. J., Irvine, A. D., Baselga, E., Dompmartin, A., Syed, S., and 40 others.
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<strong>RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.</strong>
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Hum. Mutat. 34: 1632-1641, 2013.
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[PubMed: 24038909]
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[Full Text: https://doi.org/10.1002/humu.22431]
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carol : 10/31/2023<br>carol : 06/17/2021<br>alopez : 06/16/2021<br>joanna : 05/13/2021<br>carol : 11/27/2018<br>carol : 11/26/2018<br>carol : 11/21/2018<br>carol : 11/20/2018<br>carol : 11/19/2018<br>joanna : 07/26/2016<br>carol : 07/22/2014<br>carol : 7/17/2014<br>carol : 7/17/2014<br>carol : 7/16/2014<br>carol : 10/31/2013<br>carol : 10/16/2013<br>joanna : 6/10/2011<br>wwang : 2/20/2009<br>ckniffin : 2/16/2009<br>ckniffin : 2/16/2009<br>alopez : 12/19/2003<br>alopez : 12/19/2003
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