2333 lines
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Entry
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- #601399 - PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM
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- OMIM
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<p>
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<span class="h4">#601399</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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<li role="presentation">
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<a href="/clinicalSynopsis/601399"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11012&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK568319/" 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/2765" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/runx1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601399[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71290" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 725034002<br />
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<strong>ORPHA:</strong> 71290<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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601399
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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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PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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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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</span>
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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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PLATELET DISORDER, ASPIRIN-LIKE<br />
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THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA; FPD/AML
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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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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<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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</tr>
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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/21/83?start=-3&limit=10&highlight=83">
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21q22.12
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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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Platelet disorder, familial, with associated myeloid malignancy
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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/601399"> 601399 </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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</td>
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<td>
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<span class="mim-font">
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RUNX1
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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/151385"> 151385 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/601399" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<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/601399" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601399" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Nose </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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|
|
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</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>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</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>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thrombocytopenia (birth) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970602&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970602</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Abnormal platelet aggregation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541767</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030402</a>]</span><br /> -
|
|
Prolonged bleeding time <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span><br /> -
|
|
Normal platelet size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970603</a>]</span><br /> -
|
|
Normal platelet morphology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1168104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1168104</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Acute monocytic leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22331004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22331004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413441006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413441006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/206.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">206.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004845</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004845</a>]</span><br /> -
|
|
Myelodysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109995007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109995007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128623006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128623006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D46.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/238.75" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">238.75</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463824</a>, <a href="https://bioportal.bioontology.org/search?q=C0026985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span><br /> -
|
|
Lymphosarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163043007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163043007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67824002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67824002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118600007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118600007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188676008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188676008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188498009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188498009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C85.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/200.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">200.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714542</a>, <a href="https://bioportal.bioontology.org/search?q=C0024299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span><br /> -
|
|
Lymphocytic lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64575004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/92814006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">92814006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51092000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302841002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302841002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C91.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C91.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C91.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C91.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/204.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">204.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023434</a>, <a href="https://bioportal.bioontology.org/search?q=C0024303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024303</a>, <a href="https://bioportal.bioontology.org/search?q=C0855095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0855095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005550</a>]</span><br /> -
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Neuroblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87364003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87364003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432328008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700095</a>, <a href="https://bioportal.bioontology.org/search?q=C0027819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027819</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003006</a>]</span><br />
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- Caused by mutation in the runt-related transcription factor 1 gene (RUNX1, <a href="/entry/151385#0001">151385.0001</a>)<br />
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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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<p>A number sign (#) is used with this entry because of evidence that familial platelet disorder with associated myeloid malignancy (FPDMM) is caused by heterozygous mutation in the hematopoietic transcription factor CBFA2 (RUNX1; <a href="/entry/151385">151385</a>) on chromosome 21q22.</p>
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<p><a href="#3" class="mim-tip-reference" title="Dowton, S. B., Beardsley, D., Jamison, D., Blattner, S., Li, F. P. <strong>Studies of a familial platelet disorder.</strong> Blood 65: 557-563, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855665</a>]" pmid="3855665">Dowton et al. (1985)</a> described a large pedigree with an autosomal dominant familial 'aspirin-like' platelet disorder associated with the development of acute myelogenous leukemia (AML). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3855665" 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="Arepally, G., Rebbeck, T. R., Song, W., Gilliland, G., Maris, J. M., Poncz, M. <strong>Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). (Letter)</strong> Blood 92: 2600-2602, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9746808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9746808</a>]" pmid="9746808">Arepally et al. (1998)</a> reported a family of mixed Czechoslovakian and Hungarian background with a phenotype similar to the family of <a href="#3" class="mim-tip-reference" title="Dowton, S. B., Beardsley, D., Jamison, D., Blattner, S., Li, F. P. <strong>Studies of a familial platelet disorder.</strong> Blood 65: 557-563, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855665</a>]" pmid="3855665">Dowton et al. (1985)</a>. The proband presented at the age of 4 years for hypospadias repair. He had easy bruising since infancy and was found preoperatively to have a platelet count of 106,000/microliter. The mother, maternal aunt, and maternal grandmother had low platelet counts and a bleeding diathesis. In addition to thrombocytopenia, both the index patient and his brother had hypospadias and umbilical hernia. At 41 years of age, the proband's mother developed progressive anemia and neutropenia and was shown to have refractory anemia. Within 6 months of diagnosis of myelodysplasia, increased marrow blast counts above 30% were noted. Cytogenetics yielded normal results, as did fluorescence in situ hybridization studies for monosomy 5 and 7. Immunohistochemical typing of her blasts confirmed acute myelogenous leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9746808+3855665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Beri-Dexheimer, M., Latger-Cannard, V., Philippe, C., Bonnet, C., Chambon, P., Roth, V., Gregoire, M.-J., Bordigoni, P., Lecompte, T., Leheup, B., Jonveaux, P. <strong>Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.</strong> Europ. J. Hum. Genet. 16: 1014-1018, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18478040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18478040</a>] [<a href="https://doi.org/10.1038/ejhg.2008.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18478040">Beri-Dexheimer et al. (2008)</a> reported a boy who presented at age 2 years with purpura without history of easy bruising or bleeding. Although platelet morphology was normal, he had thrombocytopenia, and the platelets showed impaired aggregation in response to ADP. A bone marrow aspirate showed a hypercellular bone marrow with blasts (20%) and myelodysplastic features. Blasts phenotype was immature with myeloid markers leading to a diagnosis of AML. He underwent successful bone marrow transplantation. His mother, who had no history of bleeding, was found to have mild isolated thrombocytopenia and similarly abnormal platelet behavior. Molecular analysis identified a heterozygous deletion in the RUNX1 gene (<a href="/entry/151385#0009">151385.0009</a>) in the patient and his mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18478040" 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="#7" class="mim-tip-reference" title="Preudhomme, C., Renneville, A., Bourdon, V., Philippe, N., Roche-Lestienne, C., Boissel, N., Dhedin, N., Andre, J.-M., Cornillet-Lefebvre, P., Baruchel, A., Mozziconacci, M.-J., Sobol, H. <strong>High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.</strong> Blood 113: 5583-5587, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357396</a>] [<a href="https://doi.org/10.1182/blood-2008-07-168260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357396">Preudhomme et al. (2009)</a> reported 16 individuals with familial platelet disorder from 4 unrelated French families associated with heterozygous mutation in or deletion of the RUNX1 gene (see, e.g., <a href="/entry/151385#0010">151385.0010</a>). Among these patients, 7 developed AML, 1 had a T-acute lymphoblastic leukemia, 1 had T-ALL followed by AML, and 1 died of an uncharacterized leukemia. Of the 8 with AML, age at diagnosis of AML ranged from 12 to 60 years, and 6 were found to have a somatic RUNX1 mutation: 4 had acquired point mutations and 2 had acquired trisomy 21. The findings indicated that a second genetic event involving RUNX1 is often associated with progression to acute leukemia in patients with familial platelet disorder. In addition, heterozygous mutations in the RUNX1 gene may also predispose to the development of lymphoblastic leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357396" 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 large family described by <a href="#3" class="mim-tip-reference" title="Dowton, S. B., Beardsley, D., Jamison, D., Blattner, S., Li, F. P. <strong>Studies of a familial platelet disorder.</strong> Blood 65: 557-563, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855665</a>]" pmid="3855665">Dowton et al. (1985)</a>, <a href="#4" class="mim-tip-reference" title="Ho, C. Y., Otterud, B., Legare, R. D., Varvil, T., Saxena, R., DeHart, D. B., Kohler, S. E., Aster, J. C., Dowton, S. B., Li, F. P., Leppert, M., Gilliland, D. G. <strong>Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.</strong> Blood 87: 5218-5224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8652836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8652836</a>]" pmid="8652836">Ho et al. (1996)</a> found linkage of the platelet disorder to markers D21S263, D21S216, IFNAR (<a href="/entry/107450">107450</a>), and D21S65 on chromosome 21q, with lod scores of 6.19, 4.89, 9.40, and 10.48, respectively (theta = 0.001). They proposed a familial platelet disorder critical region of 15.2 cM in addition to approximate placement for markers D21S211 and UT7582/D21S1413. This critical region contains 5 candidate genes, including AML1 (<a href="/entry/151385">151385</a>), IFNAR, CRF2-4 (<a href="/entry/123889">123889</a>), GART (<a href="/entry/138440">138440</a>), and SON (<a href="/entry/182465">182465</a>). See also <a href="/entry/176630">176630</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3855665+8652836" 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>By linkage analysis of a family with this disorder, <a href="#1" class="mim-tip-reference" title="Arepally, G., Rebbeck, T. R., Song, W., Gilliland, G., Maris, J. M., Poncz, M. <strong>Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). (Letter)</strong> Blood 92: 2600-2602, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9746808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9746808</a>]" pmid="9746808">Arepally et al. (1998)</a> found evidence for linkage to chromosome 21 (maximum lod score of 1.682 at D21S65). Multipoint analyses placed the putative disease locus between D21S263 and D21S211. Maximum lod scores greater than 3 were obtained at each map interval. No evidence for allele sharing between this kindred and the French Canadian pedigree reported by <a href="#4" class="mim-tip-reference" title="Ho, C. Y., Otterud, B., Legare, R. D., Varvil, T., Saxena, R., DeHart, D. B., Kohler, S. E., Aster, J. C., Dowton, S. B., Li, F. P., Leppert, M., Gilliland, D. G. <strong>Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.</strong> Blood 87: 5218-5224, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8652836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8652836</a>]" pmid="8652836">Ho et al. (1996)</a> was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9746808+8652836" 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</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Minelli, A., Maserati, E., Rossi, G., Bernardo, M. E., De Stefano, P., Cecchini, M. P., Valli, R., Albano, V., Pierani, P., Leszl, A., Sainati, L., Lo Curto, F., Danesino, C., Locatelli, F., Pasquali, F. <strong>Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.</strong> Genes Chromosomes Cancer 40: 165-171, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138996</a>] [<a href="https://doi.org/10.1002/gcc.20030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15138996">Minelli et al. (2004)</a> stated that 12 families with familial platelet disorder with propensity to acute myelogenous leukemia (FPD/AML) had previously been reported. They described an Italian family with 3 members affected with FPD/AML, 2 sibs and their father, who developed myelodysplastic syndromes, which in one subsequently evolved into AML. Direct sequencing and polymorphism haplotype analysis of the region of chromosome 21 where the RUNX1 gene maps demonstrated that FPD/AML in this family was not caused by mutation in the RUNX1 gene, thus providing evidence for the genetic heterogeneity of the disorder. Cytogenetic studies showed monosomy 7 in the marrow of all 3 affected subjects, as well as an independent clone with trisomy 8 in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138996" 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>By mutation analysis of candidate genes in the region where this familial platelet disorder maps, <a href="#8" class="mim-tip-reference" title="Song, W.-J., Sullivan, M. G., Legare, R. D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I. C., Haworth, C., Hock, R., Loh, M., Felix, C., and 12 others. <strong>Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.</strong> Nature Genet. 23: 166-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508512</a>] [<a href="https://doi.org/10.1038/13793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508512">Song et al. (1999)</a> found a heterozygous mutation in the hematopoietic transcription factor CBFA2 (see, e.g., <a href="/entry/151385#0001">151385.0001</a>; <a href="/entry/151385#0002">151385.0002</a>) in affected members of 6 families. Analysis of bone marrow or peripheral blood cells from affected individuals showed a decrement in megakaryocyte colony formation, demonstrating that CBFA2 dosage affects megakaryopoiesis. The authors suggested a model for this familial platelet disorder in which haploinsufficiency of CBFA2 causes an autosomal dominant congenital platelet defect and predisposes to an acquisition of additional mutations that cause leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508512" 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 unrelated families with the autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity to develop AML, <a href="#5" class="mim-tip-reference" title="Michaud, J., Wu, F., Osato, M., Cottles, G. M., Yanagida, M., Asou, N., Shigesada, K., Ito, Y., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Israels, S., McNicol, A., Weiss, H., Horwitz, M., Scott, H. S. <strong>In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.</strong> Blood 99: 1364-1372, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11830488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11830488</a>] [<a href="https://doi.org/10.1182/blood.v99.4.1364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11830488">Michaud et al. (2002)</a> identified 3 heterozygous mutations in the RUNX1 gene (<a href="/entry/151385#0003">151385.0003</a>-<a href="/entry/151385#0005">151385.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11830488" 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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<strong>REFERENCES</strong>
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<a id="Arepally1998" class="mim-anchor"></a>
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Arepally, G., Rebbeck, T. R., Song, W., Gilliland, G., Maris, J. M., Poncz, M.
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<strong>Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). (Letter)</strong>
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Blood 92: 2600-2602, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9746808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9746808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9746808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beri-Dexheimer, M., Latger-Cannard, V., Philippe, C., Bonnet, C., Chambon, P., Roth, V., Gregoire, M.-J., Bordigoni, P., Lecompte, T., Leheup, B., Jonveaux, P.
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<strong>Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.</strong>
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Europ. J. Hum. Genet. 16: 1014-1018, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18478040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18478040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18478040" 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/ejhg.2008.89" target="_blank">Full Text</a>]
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Dowton, S. B., Beardsley, D., Jamison, D., Blattner, S., Li, F. P.
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<strong>Studies of a familial platelet disorder.</strong>
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Blood 65: 557-563, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3855665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ho, C. Y., Otterud, B., Legare, R. D., Varvil, T., Saxena, R., DeHart, D. B., Kohler, S. E., Aster, J. C., Dowton, S. B., Li, F. P., Leppert, M., Gilliland, D. G.
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<strong>Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.</strong>
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Blood 87: 5218-5224, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8652836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8652836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8652836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Michaud, J., Wu, F., Osato, M., Cottles, G. M., Yanagida, M., Asou, N., Shigesada, K., Ito, Y., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Israels, S., McNicol, A., Weiss, H., Horwitz, M., Scott, H. S.
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<strong>In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.</strong>
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Blood 99: 1364-1372, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11830488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11830488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11830488" 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/10.1182/blood.v99.4.1364" target="_blank">Full Text</a>]
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Minelli, A., Maserati, E., Rossi, G., Bernardo, M. E., De Stefano, P., Cecchini, M. P., Valli, R., Albano, V., Pierani, P., Leszl, A., Sainati, L., Lo Curto, F., Danesino, C., Locatelli, F., Pasquali, F.
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<strong>Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.</strong>
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Genes Chromosomes Cancer 40: 165-171, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138996" 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/gcc.20030" target="_blank">Full Text</a>]
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Preudhomme, C., Renneville, A., Bourdon, V., Philippe, N., Roche-Lestienne, C., Boissel, N., Dhedin, N., Andre, J.-M., Cornillet-Lefebvre, P., Baruchel, A., Mozziconacci, M.-J., Sobol, H.
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<strong>High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.</strong>
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Blood 113: 5583-5587, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357396" 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/10.1182/blood-2008-07-168260" target="_blank">Full Text</a>]
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Song, W.-J., Sullivan, M. G., Legare, R. D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I. C., Haworth, C., Hock, R., Loh, M., Felix, C., and 12 others.
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<strong>Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.</strong>
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Nature Genet. 23: 166-175, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508512" 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/10.1038/13793" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/30/2009
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Cassandra L. Kniffin - updated : 8/20/2008<br>Victor A. McKusick - updated : 8/6/2004<br>Victor A. McKusick - updated : 9/27/1999<br>Victor A. McKusick - updated : 11/13/1998
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Cynthia K. Ewing : 8/27/1996
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alopez : 6/19/2012<br>wwang : 12/16/2009<br>ckniffin : 11/30/2009<br>wwang : 8/29/2008<br>ckniffin : 8/20/2008<br>tkritzer : 8/10/2004<br>terry : 8/6/2004<br>carol : 9/20/2002<br>carol : 9/20/2002<br>alopez : 11/10/1999<br>alopez : 9/30/1999<br>terry : 9/27/1999<br>carol : 11/13/1998<br>terry : 11/13/1998<br>terry : 9/20/1996<br>mark : 9/4/1996<br>mark : 9/4/1996<br>randy : 8/31/1996<br>terry : 8/31/1996<br>mark : 8/27/1996
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PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM
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PLATELET DISORDER, ASPIRIN-LIKE<br />
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THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA; FPD/AML
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<strong>SNOMEDCT:</strong> 725034002;
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<strong>ORPHA:</strong> 71290;
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</th>
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<th>
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Phenotype
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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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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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21q22.12
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<span class="mim-font">
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Platelet disorder, familial, with associated myeloid malignancy
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</td>
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<span class="mim-font">
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601399
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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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<td>
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<span class="mim-font">
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RUNX1
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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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151385
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</span>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that familial platelet disorder with associated myeloid malignancy (FPDMM) is caused by heterozygous mutation in the hematopoietic transcription factor CBFA2 (RUNX1; 151385) on chromosome 21q22.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Dowton et al. (1985) described a large pedigree with an autosomal dominant familial 'aspirin-like' platelet disorder associated with the development of acute myelogenous leukemia (AML). </p><p>Arepally et al. (1998) reported a family of mixed Czechoslovakian and Hungarian background with a phenotype similar to the family of Dowton et al. (1985). The proband presented at the age of 4 years for hypospadias repair. He had easy bruising since infancy and was found preoperatively to have a platelet count of 106,000/microliter. The mother, maternal aunt, and maternal grandmother had low platelet counts and a bleeding diathesis. In addition to thrombocytopenia, both the index patient and his brother had hypospadias and umbilical hernia. At 41 years of age, the proband's mother developed progressive anemia and neutropenia and was shown to have refractory anemia. Within 6 months of diagnosis of myelodysplasia, increased marrow blast counts above 30% were noted. Cytogenetics yielded normal results, as did fluorescence in situ hybridization studies for monosomy 5 and 7. Immunohistochemical typing of her blasts confirmed acute myelogenous leukemia. </p><p>Beri-Dexheimer et al. (2008) reported a boy who presented at age 2 years with purpura without history of easy bruising or bleeding. Although platelet morphology was normal, he had thrombocytopenia, and the platelets showed impaired aggregation in response to ADP. A bone marrow aspirate showed a hypercellular bone marrow with blasts (20%) and myelodysplastic features. Blasts phenotype was immature with myeloid markers leading to a diagnosis of AML. He underwent successful bone marrow transplantation. His mother, who had no history of bleeding, was found to have mild isolated thrombocytopenia and similarly abnormal platelet behavior. Molecular analysis identified a heterozygous deletion in the RUNX1 gene (151385.0009) in the patient and his mother. </p><p>Preudhomme et al. (2009) reported 16 individuals with familial platelet disorder from 4 unrelated French families associated with heterozygous mutation in or deletion of the RUNX1 gene (see, e.g., 151385.0010). Among these patients, 7 developed AML, 1 had a T-acute lymphoblastic leukemia, 1 had T-ALL followed by AML, and 1 died of an uncharacterized leukemia. Of the 8 with AML, age at diagnosis of AML ranged from 12 to 60 years, and 6 were found to have a somatic RUNX1 mutation: 4 had acquired point mutations and 2 had acquired trisomy 21. The findings indicated that a second genetic event involving RUNX1 is often associated with progression to acute leukemia in patients with familial platelet disorder. In addition, heterozygous mutations in the RUNX1 gene may also predispose to the development of lymphoblastic leukemia. </p>
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</span>
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<div>
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<br />
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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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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the large family described by Dowton et al. (1985), Ho et al. (1996) found linkage of the platelet disorder to markers D21S263, D21S216, IFNAR (107450), and D21S65 on chromosome 21q, with lod scores of 6.19, 4.89, 9.40, and 10.48, respectively (theta = 0.001). They proposed a familial platelet disorder critical region of 15.2 cM in addition to approximate placement for markers D21S211 and UT7582/D21S1413. This critical region contains 5 candidate genes, including AML1 (151385), IFNAR, CRF2-4 (123889), GART (138440), and SON (182465). See also 176630. </p><p>By linkage analysis of a family with this disorder, Arepally et al. (1998) found evidence for linkage to chromosome 21 (maximum lod score of 1.682 at D21S65). Multipoint analyses placed the putative disease locus between D21S263 and D21S211. Maximum lod scores greater than 3 were obtained at each map interval. No evidence for allele sharing between this kindred and the French Canadian pedigree reported by Ho et al. (1996) was found. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
|
|
Minelli et al. (2004) stated that 12 families with familial platelet disorder with propensity to acute myelogenous leukemia (FPD/AML) had previously been reported. They described an Italian family with 3 members affected with FPD/AML, 2 sibs and their father, who developed myelodysplastic syndromes, which in one subsequently evolved into AML. Direct sequencing and polymorphism haplotype analysis of the region of chromosome 21 where the RUNX1 gene maps demonstrated that FPD/AML in this family was not caused by mutation in the RUNX1 gene, thus providing evidence for the genetic heterogeneity of the disorder. Cytogenetic studies showed monosomy 7 in the marrow of all 3 affected subjects, as well as an independent clone with trisomy 8 in the father. </p>
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</span>
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<div>
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<br />
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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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By mutation analysis of candidate genes in the region where this familial platelet disorder maps, Song et al. (1999) found a heterozygous mutation in the hematopoietic transcription factor CBFA2 (see, e.g., 151385.0001; 151385.0002) in affected members of 6 families. Analysis of bone marrow or peripheral blood cells from affected individuals showed a decrement in megakaryocyte colony formation, demonstrating that CBFA2 dosage affects megakaryopoiesis. The authors suggested a model for this familial platelet disorder in which haploinsufficiency of CBFA2 causes an autosomal dominant congenital platelet defect and predisposes to an acquisition of additional mutations that cause leukemia. </p><p>In affected members of 3 unrelated families with the autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity to develop AML, Michaud et al. (2002) identified 3 heterozygous mutations in the RUNX1 gene (151385.0003-151385.0005). </p>
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</span>
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<div>
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<br />
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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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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Arepally, G., Rebbeck, T. R., Song, W., Gilliland, G., Maris, J. M., Poncz, M.
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<strong>Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). (Letter)</strong>
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Blood 92: 2600-2602, 1998.
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[PubMed: 9746808]
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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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Beri-Dexheimer, M., Latger-Cannard, V., Philippe, C., Bonnet, C., Chambon, P., Roth, V., Gregoire, M.-J., Bordigoni, P., Lecompte, T., Leheup, B., Jonveaux, P.
|
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<strong>Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.</strong>
|
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Europ. J. Hum. Genet. 16: 1014-1018, 2008.
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[PubMed: 18478040]
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[Full Text: https://doi.org/10.1038/ejhg.2008.89]
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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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Dowton, S. B., Beardsley, D., Jamison, D., Blattner, S., Li, F. P.
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<strong>Studies of a familial platelet disorder.</strong>
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Blood 65: 557-563, 1985.
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[PubMed: 3855665]
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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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Ho, C. Y., Otterud, B., Legare, R. D., Varvil, T., Saxena, R., DeHart, D. B., Kohler, S. E., Aster, J. C., Dowton, S. B., Li, F. P., Leppert, M., Gilliland, D. G.
|
|
<strong>Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.</strong>
|
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Blood 87: 5218-5224, 1996.
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[PubMed: 8652836]
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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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Michaud, J., Wu, F., Osato, M., Cottles, G. M., Yanagida, M., Asou, N., Shigesada, K., Ito, Y., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Israels, S., McNicol, A., Weiss, H., Horwitz, M., Scott, H. S.
|
|
<strong>In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.</strong>
|
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Blood 99: 1364-1372, 2002.
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[PubMed: 11830488]
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[Full Text: https://doi.org/10.1182/blood.v99.4.1364]
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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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Minelli, A., Maserati, E., Rossi, G., Bernardo, M. E., De Stefano, P., Cecchini, M. P., Valli, R., Albano, V., Pierani, P., Leszl, A., Sainati, L., Lo Curto, F., Danesino, C., Locatelli, F., Pasquali, F.
|
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<strong>Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.</strong>
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Genes Chromosomes Cancer 40: 165-171, 2004.
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[PubMed: 15138996]
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[Full Text: https://doi.org/10.1002/gcc.20030]
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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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Preudhomme, C., Renneville, A., Bourdon, V., Philippe, N., Roche-Lestienne, C., Boissel, N., Dhedin, N., Andre, J.-M., Cornillet-Lefebvre, P., Baruchel, A., Mozziconacci, M.-J., Sobol, H.
|
|
<strong>High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.</strong>
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Blood 113: 5583-5587, 2009.
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[PubMed: 19357396]
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[Full Text: https://doi.org/10.1182/blood-2008-07-168260]
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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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Song, W.-J., Sullivan, M. G., Legare, R. D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I. C., Haworth, C., Hock, R., Loh, M., Felix, C., and 12 others.
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<strong>Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.</strong>
|
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Nature Genet. 23: 166-175, 1999.
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[PubMed: 10508512]
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[Full Text: https://doi.org/10.1038/13793]
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Cassandra L. Kniffin - updated : 11/30/2009<br>Cassandra L. Kniffin - updated : 8/20/2008<br>Victor A. McKusick - updated : 8/6/2004<br>Victor A. McKusick - updated : 9/27/1999<br>Victor A. McKusick - updated : 11/13/1998
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<span class="mim-text-font">
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Cynthia K. Ewing : 8/27/1996
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carol : 02/25/2014<br>alopez : 6/19/2012<br>wwang : 12/16/2009<br>ckniffin : 11/30/2009<br>wwang : 8/29/2008<br>ckniffin : 8/20/2008<br>tkritzer : 8/10/2004<br>terry : 8/6/2004<br>carol : 9/20/2002<br>carol : 9/20/2002<br>alopez : 11/10/1999<br>alopez : 9/30/1999<br>terry : 9/27/1999<br>carol : 11/13/1998<br>terry : 11/13/1998<br>terry : 9/20/1996<br>mark : 9/4/1996<br>mark : 9/4/1996<br>randy : 8/31/1996<br>terry : 8/31/1996<br>mark : 8/27/1996
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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