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Entry
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- #188000 - THROMBOCYTOPENIA 2; THC2
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- OMIM
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<p>
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<span class="h4">#188000</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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/188000"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS313900"> <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="#heterogeneity">Heterogeneity</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</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="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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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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</ul>
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<span class="small">
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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>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=THROMBOCYTOPENIA" 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=17789&Typ=Pat" title="Autosomal thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal thrombocytopenia… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20176&Typ=Pat" title="Hereditary thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hereditary thrombocytopeni… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK507664/" 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/7077" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=188000[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=168629" title="Autosomal thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal thrombocytopenia…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268322" title="Hereditary thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hereditary thrombocytopeni…</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1588" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/188000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001001,002258" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:1588" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:188000" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 168629, 268322<br />
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<strong>DO:</strong> 1588<br />
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">ICD+</a>
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</div>
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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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188000
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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THROMBOCYTOPENIA 2; THC2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
|
</div>
|
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/117?start=-3&limit=10&highlight=117">
|
|
10p12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombocytopenia 2
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188000"> 188000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ANKRD26
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610855"> 610855 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/188000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS313900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/188000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/188000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild-moderate bruisability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861191&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861191</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thrombocytopenia (mean 42.7 x 10(9)/L) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861186</a>]</span><br /> -
|
|
Normal platelet size (normal MPV) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861187&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861187</a>]</span><br /> -
|
|
Increased megakaryocyte colony forming units (CFU-MK) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861188</a>]</span><br /> -
|
|
Increased total white blood count <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861189</a>]</span><br /> -
|
|
Increased plasma thrombopoietin (TPO) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861190</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ankyrin repeat domain-containing protein 26 gene (ANKRD26, <a href="/entry/610855#0001">610855.0001</a>)<br /> -
|
|
Caused by mutation in the microtubule-associated serine/threonine kinase-like gene (MASTL, <a href="/entry/608221#0001">608221.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Thrombocytopenia
|
|
- <a href="/phenotypicSeries/PS313900">PS313900</a>
|
|
- 14 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/279?start=-3&limit=10&highlight=279"> 1p36.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620776"> Thrombocytopenia 13, syndromic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620776"> 620776 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606953"> GALE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606953"> 606953 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/920?start=-3&limit=10&highlight=920"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620478"> Thrombocytopenia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620478"> 620478 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600044"> THPO </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600044"> 600044 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/125?start=-3&limit=10&highlight=125"> 5p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273900"> Thrombocytopenia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273900"> 273900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602731"> FYB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602731"> 602731 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/46?start=-3&limit=10&highlight=46"> 7p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620475"> Thrombocytopenia 8, with dysmorphic features and developmental delay </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620475"> 620475 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102630"> ACTB </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102630"> 102630 </a>
|
|
</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/122?start=-3&limit=10&highlight=122"> 7p15.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612004"> Thrombocytopenia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612004"> 612004 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123970"> CYCS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123970"> 123970 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/187?start=-3&limit=10&highlight=187"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620757"> Thrombocytopenia 12 with or without myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620757"> 620757 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603824"> GNE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603824"> 603824 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/117?start=-3&limit=10&highlight=117"> 10p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188000"> Thrombocytopenia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188000"> 188000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610855"> ANKRD26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610855"> 610855 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/629?start=-3&limit=10&highlight=629"> 10q26.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619130"> Thrombocytopenia, autosomal dominant, 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619130"> 619130 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606238"> IKZF5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606238"> 606238 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/375?start=-3&limit=10&highlight=375"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620484"> Thrombocytopenia 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620484"> 620484 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600925"> PTPRJ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600925"> 600925 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/174?start=-3&limit=10&highlight=174"> 12p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616216"> Thrombocytopenia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616216"> 616216 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600618"> ETV6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600618"> 600618 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/602?start=-3&limit=10&highlight=602"> 12q15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620654"> Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620654"> 620654 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179530"> RAP1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179530"> 179530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/268?start=-3&limit=10&highlight=268"> 20q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616937"> ?Thrombocytopenia 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616937"> 616937 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190090"> SRC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190090"> 190090 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> Thrombocytopenia, X-linked, intermittent </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> 313900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300392"> WAS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300392"> 300392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> Thrombocytopenia, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> 313900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300392"> WAS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300392"> 300392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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<div class="text-right small">
|
|
<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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that thrombocytopenia-2 (THC2) is caused by heterozygous mutation in the ANKRD26 gene (<a href="/entry/610855">610855</a>) on chromosome 10p12.</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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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by <a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21211618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of thrombocytopenia, see <a href="/entry/313900">313900</a>.</p>
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<a href="#23" class="mim-tip-reference" title="Seip, M. <strong>Hereditary hypoplastic thrombocytopenia.</strong> Acta Paediat. (Stockh.) 52: 370-376, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13992635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13992635</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1963.tb03795.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13992635">Seip (1963)</a> described a mother and her 2 sons with thrombocytopenia. Platelet antibodies were not demonstrated. One son had bilateral aplasia of the twelfth rib and mild right hydronephrosis. The other son had frequent episodes of hematuria and recurrent hydronephrosis. <a href="#1" class="mim-tip-reference" title="Ata, M., Fisher, O. D., Holman, C. A. <strong>Inherited thrombocytopenia.</strong> Lancet 285: 119-123, 1965. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4161668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4161668</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)91087-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4161668">Ata et al. (1965)</a> found undue bleeding in 10 members of 6 sibships in 5 generations of a family. Inheritance was thought to be autosomal dominant with incomplete penetrance in females. Splenectomy performed in 3 affected persons corrected thrombocytopenia. The only affected woman recovered spontaneously. <a href="#8" class="mim-tip-reference" title="Harms, D., Sachs, V. <strong>Familial chronic thrombocytopenia with platelet autoantibodies.</strong> Acta Haemat. 34: 30-35, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4953957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4953957</a>] [<a href="https://doi.org/10.1159/000209427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4953957">Harms and Sachs (1965)</a> described 3 sisters, their mother and their maternal grandmother with chronic idiopathic thrombocytopenia and platelet autoantibodies associated with a diminution of clotting factor IX (F9; <a href="/entry/300746">300746</a>). A particularly convincing pedigree studied by <a href="#3" class="mim-tip-reference" title="Bithell, T. C., Didisheim, P., Cartwright, G. E., Wintrobe, M. M. <strong>Thrombocytopenia inherited as an autosomal dominant trait.</strong> Blood 25: 231-240, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14267699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14267699</a>]" pmid="14267699">Bithell et al. (1965)</a> had 8 proven cases of thrombocytopenia in 3 generations. In addition, a history of hemorrhagic diathesis was given by 7 other persons so that at least 4 generations and 11 sibships were involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14267699+4953957+4161668+13992635" 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="#14" class="mim-tip-reference" title="Murphy, S., Oski, F. A., Gardner, F. H. <strong>Hereditary thrombocytopenia with an intrinsic platelet defect.</strong> New Eng. J. Med. 281: 857-862, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5818100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5818100</a>] [<a href="https://doi.org/10.1056/NEJM196910162811601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5818100">Murphy et al. (1969)</a> described a family with 5 cases of thrombocytopenia in 3 generations, with no example of male-to-male transmission. Shortened platelet life span was demonstrated and was shown to be an intrinsic property of the platelet. Morphologic and biochemical studies failed to elucidate the nature of the defect. Other apparently dominant pedigrees were reported by <a href="#2" class="mim-tip-reference" title="Bethard, W. F., Boyer, J. L. <strong>Familial thrombocytopenia. (Abstract)</strong> J. Lab. Clin. Med. 64: 842 only, 1964."None>Bethard and Boyer (1964)</a> and <a href="#27" class="mim-tip-reference" title="Woolley, E. J. S. <strong>Familial idiopathic thrombocytopenic purpura.</strong> Brit. Med. J. 1: 440 only, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13284352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13284352</a>] [<a href="https://doi.org/10.1136/bmj.1.4964.440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13284352">Woolley (1956)</a>. <a href="#25" class="mim-tip-reference" title="Stavem, P., Jeremic, M., Hjort, P. F., Wisloff, F., Vogt, E., Oyen, R., Abrahamsen, A. F., Sovde, A. <strong>Hereditary thrombocytopenia with excessively prolonged bleeding time.</strong> Scand. J. Haemat. 6: 250-261, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5348279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5348279</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1969.tb02405.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5348279">Stavem et al. (1969)</a> described a family with autosomal dominant hereditary thrombocytopenia. Affected family members showed severe nosebleeds in childhood, prolonged bleeding after tooth extractions, and, in females, a tendency to menorrhagia but not to increased postpartum bleeding. Platelet counts usually fluctuated between 30,000 and 80,000. The number and appearance of the megakaryocytes were normal and the platelets, although somewhat larger than normal, were otherwise morphologically not remarkable. The bleeding time was excessively prolonged in spite of only moderately reduced platelet count. On the other hand, the patients had normal tourniquet tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13284352+5818100+5348279" 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="#17" class="mim-tip-reference" title="Najean, Y., Lecompte, T. <strong>Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases.</strong> Brit. J. Haemat. 74: 203-208, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317455</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb02566.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2317455">Najean and Lecompte (1990)</a> studied 54 cases with chronic thrombocytopenia, a normal autologous and homologous platelet life span, increased mean platelet volume without Dohle bodies, absence of any functional platelet abnormalities, and a normal megakaryocyte count. Previous treatment with corticosteroids, immunoglobulins, androgens, immunosuppressor agents, and splenectomy were ineffective. Many relatives were found to be affected also in an autosomal dominant pedigree pattern with many instances of male-to-male transmission. <a href="#17" class="mim-tip-reference" title="Najean, Y., Lecompte, T. <strong>Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases.</strong> Brit. J. Haemat. 74: 203-208, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317455</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb02566.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2317455">Najean and Lecompte (1990)</a> suggested that the condition is a frequent one that has escaped attention previously due to the mild clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2317455" 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>Families with Proven Mutations in the ANKRD26 Gene</em></strong></p><p>
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<a href="#22" class="mim-tip-reference" title="Savoia, A., Del Vecchio, M., Totaro, A., Perrotta, S., Amendola, G., Moretti, A., Zelante, L., Iolascon, A. <strong>An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.</strong> Am. J. Hum. Genet. 65: 1401-1405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521306[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/10.1086/302637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521306">Savoia et al. (1999)</a> reported a large Italian family with autosomal dominant thrombocytopenia. Patients showed a moderate thrombocytopenia with minimal symptoms. Laboratory studies showed normocellular bone marrow, normal medium platelet volume, and positive aggregation tests, indicating normal function. <a href="#10" class="mim-tip-reference" title="Iolascon, A., Perrotta, S., Amendola, G., Altomare, M., Bagnara, G. P., Del Vecchio, M. E., Savoia, A. <strong>Familial dominant thrombocytopenia: clinical, biologic, and molecular studies.</strong> Pediat. Res. 46: 548-552, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541317</a>] [<a href="https://doi.org/10.1203/00006450-199911000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541317">Iolascon et al. (1999)</a> reviewed the clinical features of the 17 living affected members of this family; none had major bleeding episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10521306+10541317" 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="#5" class="mim-tip-reference" title="Drachman, J. G., Jarvik, G. P., Mehaffey, M. G. <strong>Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.</strong> Blood 96: 118-125, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891439</a>]" pmid="10891439">Drachman et al. (2000)</a> reported a large family with autosomal dominant, moderate, lifelong thrombocytopenia with a propensity toward easy bruising and minor bleeding. There was no evident association with hematopoietic malignancy or progression to aplastic anemia. Immunosuppression and splenectomy were of no therapeutic help. Affected individuals had normal platelet size and modestly increased thrombopoietin (THPO; <a href="/entry/600044">600044</a>) levels. Hematopoietic colony assays from bone marrow and peripheral blood demonstrated that megakaryocyte precursors were dramatically increased in both number and size in affected individuals. This finding and electron microscopic studies indicated that megakaryocytes had markedly delayed nuclear and cytoplasmic differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891439" 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>Families with apparent autosomal dominant inheritance of thrombocytopenia presumably due to other causes have been reported. <a href="#9" class="mim-tip-reference" title="Helmerhorst, F. M., Heaton, D. C., Crossen, P. E., von dem Borne, A. E. G. K., Engelfriet, C. P., Natarajan, A. T. <strong>Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage.</strong> Hum. Genet. 65: 252-256, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6421717/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6421717</a>] [<a href="https://doi.org/10.1007/BF00286512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6421717">Helmerhorst et al. (1984)</a> described a family in which 3 members, a brother and sister and a female second cousin of theirs had thrombocytopenia, chromosomal changes like those of Fanconi anemia (but without the developmental features of that disorder) and antiplatelet antibodies. One patient, the cousin, had bone marrow hypoplasia and died from metastatic squamous carcinoma of the mouth at age 27. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6421717" 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="#24" class="mim-tip-reference" title="Stavem, P., Abrahamsen, A. F., Vartdal, F., Nordhagen, R., Rootwelt, K. <strong>Hereditary thrombocytopenia with excessively prolonged bleeding time, corrected by infusions of platelet poor plasma.</strong> Scand. J. Haemat. 37: 210-214, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3787172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3787172</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1986.tb02299.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3787172">Stavem et al. (1986)</a> demonstrated a plasma factor in a patient with hereditary thrombocytopenia. Transfused normal platelets as well as the patients' own platelets had a shortened survival in the patients' circulation. However, the patients' platelets survived normally when transfused to a normal recipient. Platelet-associated immunoglobulins or circulating platelet antibodies were not detected. Daily infusion of platelet-poor plasma resulted in a rise in the platelet count and a decrease in bleeding time. The maximal rise in platelet count and decrease in bleeding time was observed 7 days after a course of infusion on each of the 5 successive days. Return of the platelet count and bleeding time to pretreatment levels occurred 16 days after platelet-poor plasma was discontinued. The response was similar on the second infusion experiment. It was concluded 'that the afflicted family members must have a deficiency of some plasma principal necessary to keep platelets fit and circulating.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3787172" 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="#12" class="mim-tip-reference" title="Majado, M. J., Gonzalez, C., Tamayo, M., Sanchez, A., Moreno, M. <strong>Effective splenectomy in familial isolated thrombocytopenia. (Letter)</strong> Am. J. Hemat. 39: 70 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1536144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1536144</a>] [<a href="https://doi.org/10.1002/ajh.2830390117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1536144">Majado et al. (1992)</a> described benefit from splenectomy in a mother and 1 of her 3 affected children. The mother had splenectomy because of a mistaken diagnosis of idiopathic thrombocytopenic purpura. Because of the benefit, splenectomy was performed also in the oldest child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1536144" 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 genomewide analysis of a large Italian family with autosomal dominant thrombocytopenia, <a href="#22" class="mim-tip-reference" title="Savoia, A., Del Vecchio, M., Totaro, A., Perrotta, S., Amendola, G., Moretti, A., Zelante, L., Iolascon, A. <strong>An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.</strong> Am. J. Hum. Genet. 65: 1401-1405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521306[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/10.1086/302637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521306">Savoia et al. (1999)</a> found linkage to a 6-cM locus on chromosome 10p12-p11.1 between D10S586 and D10S1639. The locus was designated THC2. A maximum lod score of 8.12 at recombination fraction 0.00 was obtained with the microsatellite D10S588. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521306" 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 in a large family segregating thrombocytopenia, <a href="#5" class="mim-tip-reference" title="Drachman, J. G., Jarvik, G. P., Mehaffey, M. G. <strong>Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.</strong> Blood 96: 118-125, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891439</a>]" pmid="10891439">Drachman et al. (2000)</a> reported a maximum 2-point lod score of 5.68 on proximal 10p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891439" 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>Using short- and long-read whole-genome sequencing in a multigenerational family with thrombocytopenia-2, <a href="#26" class="mim-tip-reference" title="Wahlster, L., Verboon, J. M., Ludwig, L. S., Black, S. C., Luo, W., Garg, K., Voit, R. A., Collins, R. L., Garimella, K., Costello, M., Chao, K. R., Goodrich, J. K., DiTroia, S. P., O'Donnell-Luria, A., Talkowski, M. E., Michelson, A. D., Cantor, A. B., Sankaran, V. G. <strong>Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.</strong> J. Exp. Med. 218: e20210444, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33857290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33857290</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33857290[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/10.1084/jem.20210444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33857290">Wahlster et al. (2021)</a> identified a complex paired-duplication inversion affecting a 1.3-Mb region on chromosome 10, which resulted in a WAC (<a href="/entry/615049">615049</a>)-ANKRD26 fusion transcript. The fusion transcript consisted of the proximal promoter and exon 1 of the WAC gene and exons 10-34 of the ANKRD26 gene. Characterization of the breakpoint sites showed microhomology between Alu repeats consisting of 45 and 2 bp. mRNA levels of ANKRD26 were shown to be upregulated in the peripheral blood mononuclear cells (PBMCs) of one of the affected family members. The WAC/ANKRD26 fusion transcript enabled translation of a truncated form of ANKRD26 starting from a methionine located in exon 11 (exon 11+ ANKRD26) that would remove all ankyrin repeats but retain the coiled-coil domain. Expression of the exon 11+ ANKRD26 in primary human CD34+ hematopoietic stem cells resulted in increased MAPK activation. <a href="#13" class="mim-tip-reference" title="Murphy, L., Mead, A. J. <strong>Familial thrombocytopenia: the long and short of it.</strong> J. Exp. Med. 218: e20210604, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34014260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34014260</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34014260[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/10.1084/jem.20210604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34014260">Murphy and Mead (2021)</a> commented that whereas in conventional cases of THC2, patients are predisposed to myeloid malignancies, it is not known whether overexpression of a truncated ANKRD26 will lead to a similar susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=33857290+34014260" 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 THC2 in the families reported by <a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al. (2011)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21211618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al. (2011)</a> identified 6 different heterozygous mutations in the 5-prime promoter region of the ANKRD26 gene on chromosome 10p12-p11.1 (see, e.g., <a href="/entry/610855#0001">610855.0001</a>-<a href="/entry/610855#0003">610855.0003</a>), which maps to the THC2 locus, in 9 of 20 unrelated families with autosomal dominant nonsyndromic thrombocytopenia. <a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al. (2011)</a> used in vitro functional expression assays in Dami human megakaryoblastic cells to show that the ANKRD26 mutations resulted in increased expression, particularly when the cells were stimulated toward maturation. The findings suggested a gain-of-function effect. <a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al. (2011)</a> speculated that the ANKRD26 mutations interfere with mechanisms controlling the expression of ANKRD26, which would then affect megakaryopoiesis and platelet production, perhaps by inducing apoptosis. One of the families with an ANKRD26 mutation had previously been reported by <a href="#22" class="mim-tip-reference" title="Savoia, A., Del Vecchio, M., Totaro, A., Perrotta, S., Amendola, G., Moretti, A., Zelante, L., Iolascon, A. <strong>An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.</strong> Am. J. Hum. Genet. 65: 1401-1405, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521306[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/10.1086/302637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521306">Savoia et al. (1999)</a> and had been found by <a href="#20" class="mim-tip-reference" title="Punzo, F., Mientjes, E. J., Rohe, C. F., Scianguetta, S., Amendola, G., Oostra, B. A., Bertoli-Avella, A. M., Perrotta, S. <strong>A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia.</strong> J. Thromb. Haemost. 8: 2085-2087, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20626622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20626622</a>] [<a href="https://doi.org/10.1111/j.1538-7836.2010.03979.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20626622">Punzo et al. (2010)</a> to have a mutation in the ACBD5 gene (<a href="/entry/616618">616618</a>). <a href="#19" class="mim-tip-reference" title="Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others. <strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong> Am. J. Hum. Genet. 88: 115-120, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21211618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21211618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21211618[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21211618">Pippucci et al. (2011)</a> found no mutations in either the ACBD5 or MASTL (<a href="/entry/608221">608221</a>) gene in 4 families with autosomal dominant thrombocytopenia mapping to chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21211618+10521306+20626622" 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>Associations Pending Confirmation</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Gandhi, M. J., Cummings, C. L., Drachman, J. G. <strong>FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.</strong> Hum. Hered. 55: 66-70, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12890928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12890928</a>] [<a href="https://doi.org/10.1159/000071812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12890928">Gandhi et al. (2003)</a> identified a heterozygous missense variant in the MASTL gene (E167D; <a href="/entry/608221#0001">608221.0001</a>) in affected members of the family with thrombocytopenia mapped to 10p by <a href="#5" class="mim-tip-reference" title="Drachman, J. G., Jarvik, G. P., Mehaffey, M. G. <strong>Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.</strong> Blood 96: 118-125, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891439</a>]" pmid="10891439">Drachman et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10891439+12890928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Naparstek, Y., Abrahamov, A., Cohen, T., Brautbar, C. <strong>Familial hereditary thrombocytopenia and HLA.</strong> Am. J. Hemat. 17: 113-116, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6465131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6465131</a>] [<a href="https://doi.org/10.1002/ajh.2830170203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6465131">Naparstek et al. (1984)</a> concluded that the mutation for autosomal dominant thrombocytopenia is not linked to HLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6465131" 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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<a href="#Danielsson1980" class="mim-tip-reference" title="Danielsson, L., Jelf, E., Lundkvist, L. <strong>A new family with inherited thrombocytopenia.</strong> Scand. J. Haemat. 24: 427-429, 1980.">Danielsson et al. (1980)</a>; <a href="#Grottum1969" class="mim-tip-reference" title="Grottum, K. A., Solum, N. O. <strong>Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane.</strong> Brit. J. Haemat. 16: 277-290, 1969.">Grottum and Solum (1969)</a>; <a href="#Kurstjens1967" class="mim-tip-reference" title="Kurstjens, R., Bolt, C., Haanen, C. A. <strong>Familiale thrombocytopenia.</strong> Nederl. T. Geneesk. 111: 1897-1898, 1967.">Kurstjens et al.
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(1967)</a>; <a href="#Murphy1972" class="mim-tip-reference" title="Murphy, S. <strong>Hereditary thrombocytopenia.</strong> Clin. Haemat. 2: 359-368, 1972.">Murphy (1972)</a>; <a href="#Myllyla1967" class="mim-tip-reference" title="Myllyla, G., Pelkonen, R., Ikkala, E., Apajalahti, J. <strong>Hereditary thrombocytopenia: report of three families.</strong> Scand. J. Haemat. 4: 441-452, 1967.">Myllyla et al. (1967)</a>; <a href="#Quick1963" class="mim-tip-reference" title="Quick, A. J., Hussey, C. V. <strong>Hereditary thrombopathic thrombocytopenia.</strong> Am. J. Med. Sci. 245: 643-653, 1963.">Quick and Hussey (1963)</a>
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Lancet 285: 119-123, 1965. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4161668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4161668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4161668" 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/s0140-6736(65)91087-1" target="_blank">Full Text</a>]
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<strong>Familial thrombocytopenia. (Abstract)</strong>
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J. Lab. Clin. Med. 64: 842 only, 1964.
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[<a href="https://doi.org/10.1159/000071812" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1969.tb00402.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000209427" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00286512" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajh.2830170203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.12.006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1538-7836.2010.03979.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Savoia1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Savoia, A., Del Vecchio, M., Totaro, A., Perrotta, S., Amendola, G., Moretti, A., Zelante, L., Iolascon, A.
|
|
<strong>An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.</strong>
|
|
Am. J. Hum. Genet. 65: 1401-1405, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521306</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521306[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=10521306" 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/10.1086/302637" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Seip1963" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Seip, M.
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<strong>Hereditary hypoplastic thrombocytopenia.</strong>
|
|
Acta Paediat. (Stockh.) 52: 370-376, 1963.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13992635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13992635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13992635" 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.1651-2227.1963.tb03795.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Stavem1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stavem, P., Abrahamsen, A. F., Vartdal, F., Nordhagen, R., Rootwelt, K.
|
|
<strong>Hereditary thrombocytopenia with excessively prolonged bleeding time, corrected by infusions of platelet poor plasma.</strong>
|
|
Scand. J. Haemat. 37: 210-214, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3787172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3787172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3787172" 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.1600-0609.1986.tb02299.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Stavem1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stavem, P., Jeremic, M., Hjort, P. F., Wisloff, F., Vogt, E., Oyen, R., Abrahamsen, A. F., Sovde, A.
|
|
<strong>Hereditary thrombocytopenia with excessively prolonged bleeding time.</strong>
|
|
Scand. J. Haemat. 6: 250-261, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5348279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5348279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5348279" 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.1600-0609.1969.tb02405.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Wahlster2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wahlster, L., Verboon, J. M., Ludwig, L. S., Black, S. C., Luo, W., Garg, K., Voit, R. A., Collins, R. L., Garimella, K., Costello, M., Chao, K. R., Goodrich, J. K., DiTroia, S. P., O'Donnell-Luria, A., Talkowski, M. E., Michelson, A. D., Cantor, A. B., Sankaran, V. G.
|
|
<strong>Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.</strong>
|
|
J. Exp. Med. 218: e20210444, 2021.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33857290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33857290</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33857290[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=33857290" 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/10.1084/jem.20210444" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Woolley1956" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woolley, E. J. S.
|
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<strong>Familial idiopathic thrombocytopenic purpura.</strong>
|
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Brit. Med. J. 1: 440 only, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13284352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13284352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13284352" 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/10.1136/bmj.1.4964.440" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/24/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/2/2011<br>Victor A. McKusick - updated : 10/31/2003<br>Victor A. McKusick - updated : 9/27/2000<br>Victor A. McKusick - updated : 1/7/2000<br>Victor A. McKusick - updated : 11/15/1999
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/02/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/03/2024<br>carol : 01/02/2024<br>carol : 12/20/2023<br>carol : 09/25/2021<br>carol : 09/24/2021<br>carol : 11/01/2016<br>mgross : 10/26/2015<br>alopez : 5/21/2015<br>terry : 3/17/2011<br>wwang : 2/24/2011<br>ckniffin : 2/2/2011<br>wwang : 7/29/2009<br>terry : 2/9/2009<br>alopez : 4/23/2008<br>wwang : 2/15/2007<br>wwang : 10/6/2006<br>alopez : 10/31/2003<br>terry : 10/31/2003<br>ckniffin : 5/13/2002<br>mcapotos : 10/12/2000<br>mcapotos : 10/10/2000<br>terry : 9/27/2000<br>carol : 2/26/2000<br>terry : 1/7/2000<br>mgross : 11/29/1999<br>terry : 11/15/1999<br>terry : 11/15/1999<br>mimadm : 5/10/1995<br>terry : 7/15/1994<br>carol : 3/3/1994<br>carol : 11/22/1993<br>carol : 4/21/1992<br>supermim : 3/16/1992
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 188000
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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THROMBOCYTOPENIA 2; THC2
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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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<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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THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
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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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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 168629, 268322;
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<strong>DO:</strong> 1588;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</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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10p12.1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Thrombocytopenia 2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
188000
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ANKRD26
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610855
|
|
</span>
|
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</td>
|
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</tr>
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|
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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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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that thrombocytopenia-2 (THC2) is caused by heterozygous mutation in the ANKRD26 gene (610855) on chromosome 10p12.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011). </p><p>For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</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><strong><em>Early Descriptions of Autosomal Dominant Thrombocytopenia</em></strong></p><p>
|
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Seip (1963) described a mother and her 2 sons with thrombocytopenia. Platelet antibodies were not demonstrated. One son had bilateral aplasia of the twelfth rib and mild right hydronephrosis. The other son had frequent episodes of hematuria and recurrent hydronephrosis. Ata et al. (1965) found undue bleeding in 10 members of 6 sibships in 5 generations of a family. Inheritance was thought to be autosomal dominant with incomplete penetrance in females. Splenectomy performed in 3 affected persons corrected thrombocytopenia. The only affected woman recovered spontaneously. Harms and Sachs (1965) described 3 sisters, their mother and their maternal grandmother with chronic idiopathic thrombocytopenia and platelet autoantibodies associated with a diminution of clotting factor IX (F9; 300746). A particularly convincing pedigree studied by Bithell et al. (1965) had 8 proven cases of thrombocytopenia in 3 generations. In addition, a history of hemorrhagic diathesis was given by 7 other persons so that at least 4 generations and 11 sibships were involved. </p><p>Murphy et al. (1969) described a family with 5 cases of thrombocytopenia in 3 generations, with no example of male-to-male transmission. Shortened platelet life span was demonstrated and was shown to be an intrinsic property of the platelet. Morphologic and biochemical studies failed to elucidate the nature of the defect. Other apparently dominant pedigrees were reported by Bethard and Boyer (1964) and Woolley (1956). Stavem et al. (1969) described a family with autosomal dominant hereditary thrombocytopenia. Affected family members showed severe nosebleeds in childhood, prolonged bleeding after tooth extractions, and, in females, a tendency to menorrhagia but not to increased postpartum bleeding. Platelet counts usually fluctuated between 30,000 and 80,000. The number and appearance of the megakaryocytes were normal and the platelets, although somewhat larger than normal, were otherwise morphologically not remarkable. The bleeding time was excessively prolonged in spite of only moderately reduced platelet count. On the other hand, the patients had normal tourniquet tests. </p><p>Najean and Lecompte (1990) studied 54 cases with chronic thrombocytopenia, a normal autologous and homologous platelet life span, increased mean platelet volume without Dohle bodies, absence of any functional platelet abnormalities, and a normal megakaryocyte count. Previous treatment with corticosteroids, immunoglobulins, androgens, immunosuppressor agents, and splenectomy were ineffective. Many relatives were found to be affected also in an autosomal dominant pedigree pattern with many instances of male-to-male transmission. Najean and Lecompte (1990) suggested that the condition is a frequent one that has escaped attention previously due to the mild clinical manifestations. </p><p><strong><em>Families with Proven Mutations in the ANKRD26 Gene</em></strong></p><p>
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Savoia et al. (1999) reported a large Italian family with autosomal dominant thrombocytopenia. Patients showed a moderate thrombocytopenia with minimal symptoms. Laboratory studies showed normocellular bone marrow, normal medium platelet volume, and positive aggregation tests, indicating normal function. Iolascon et al. (1999) reviewed the clinical features of the 17 living affected members of this family; none had major bleeding episodes. </p><p>Drachman et al. (2000) reported a large family with autosomal dominant, moderate, lifelong thrombocytopenia with a propensity toward easy bruising and minor bleeding. There was no evident association with hematopoietic malignancy or progression to aplastic anemia. Immunosuppression and splenectomy were of no therapeutic help. Affected individuals had normal platelet size and modestly increased thrombopoietin (THPO; 600044) levels. Hematopoietic colony assays from bone marrow and peripheral blood demonstrated that megakaryocyte precursors were dramatically increased in both number and size in affected individuals. This finding and electron microscopic studies indicated that megakaryocytes had markedly delayed nuclear and cytoplasmic differentiation. </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>Heterogeneity</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>Families with apparent autosomal dominant inheritance of thrombocytopenia presumably due to other causes have been reported. Helmerhorst et al. (1984) described a family in which 3 members, a brother and sister and a female second cousin of theirs had thrombocytopenia, chromosomal changes like those of Fanconi anemia (but without the developmental features of that disorder) and antiplatelet antibodies. One patient, the cousin, had bone marrow hypoplasia and died from metastatic squamous carcinoma of the mouth at age 27. </p><p>Stavem et al. (1986) demonstrated a plasma factor in a patient with hereditary thrombocytopenia. Transfused normal platelets as well as the patients' own platelets had a shortened survival in the patients' circulation. However, the patients' platelets survived normally when transfused to a normal recipient. Platelet-associated immunoglobulins or circulating platelet antibodies were not detected. Daily infusion of platelet-poor plasma resulted in a rise in the platelet count and a decrease in bleeding time. The maximal rise in platelet count and decrease in bleeding time was observed 7 days after a course of infusion on each of the 5 successive days. Return of the platelet count and bleeding time to pretreatment levels occurred 16 days after platelet-poor plasma was discontinued. The response was similar on the second infusion experiment. It was concluded 'that the afflicted family members must have a deficiency of some plasma principal necessary to keep platelets fit and circulating.' </p><p>Majado et al. (1992) described benefit from splenectomy in a mother and 1 of her 3 affected children. The mother had splenectomy because of a mistaken diagnosis of idiopathic thrombocytopenic purpura. Because of the benefit, splenectomy was performed also in the oldest child. </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>By genomewide analysis of a large Italian family with autosomal dominant thrombocytopenia, Savoia et al. (1999) found linkage to a 6-cM locus on chromosome 10p12-p11.1 between D10S586 and D10S1639. The locus was designated THC2. A maximum lod score of 8.12 at recombination fraction 0.00 was obtained with the microsatellite D10S588. </p><p>By linkage analysis in a large family segregating thrombocytopenia, Drachman et al. (2000) reported a maximum 2-point lod score of 5.68 on proximal 10p. </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>Cytogenetics</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>Using short- and long-read whole-genome sequencing in a multigenerational family with thrombocytopenia-2, Wahlster et al. (2021) identified a complex paired-duplication inversion affecting a 1.3-Mb region on chromosome 10, which resulted in a WAC (615049)-ANKRD26 fusion transcript. The fusion transcript consisted of the proximal promoter and exon 1 of the WAC gene and exons 10-34 of the ANKRD26 gene. Characterization of the breakpoint sites showed microhomology between Alu repeats consisting of 45 and 2 bp. mRNA levels of ANKRD26 were shown to be upregulated in the peripheral blood mononuclear cells (PBMCs) of one of the affected family members. The WAC/ANKRD26 fusion transcript enabled translation of a truncated form of ANKRD26 starting from a methionine located in exon 11 (exon 11+ ANKRD26) that would remove all ankyrin repeats but retain the coiled-coil domain. Expression of the exon 11+ ANKRD26 in primary human CD34+ hematopoietic stem cells resulted in increased MAPK activation. Murphy and Mead (2021) commented that whereas in conventional cases of THC2, patients are predisposed to myeloid malignancies, it is not known whether overexpression of a truncated ANKRD26 will lead to a similar susceptibility. </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>Inheritance</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>The transmission pattern of THC2 in the families reported by Pippucci et al. (2011) was consistent with autosomal dominant inheritance. </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>Pippucci et al. (2011) identified 6 different heterozygous mutations in the 5-prime promoter region of the ANKRD26 gene on chromosome 10p12-p11.1 (see, e.g., 610855.0001-610855.0003), which maps to the THC2 locus, in 9 of 20 unrelated families with autosomal dominant nonsyndromic thrombocytopenia. Pippucci et al. (2011) used in vitro functional expression assays in Dami human megakaryoblastic cells to show that the ANKRD26 mutations resulted in increased expression, particularly when the cells were stimulated toward maturation. The findings suggested a gain-of-function effect. Pippucci et al. (2011) speculated that the ANKRD26 mutations interfere with mechanisms controlling the expression of ANKRD26, which would then affect megakaryopoiesis and platelet production, perhaps by inducing apoptosis. One of the families with an ANKRD26 mutation had previously been reported by Savoia et al. (1999) and had been found by Punzo et al. (2010) to have a mutation in the ACBD5 gene (616618). Pippucci et al. (2011) found no mutations in either the ACBD5 or MASTL (608221) gene in 4 families with autosomal dominant thrombocytopenia mapping to chromosome 10. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
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Gandhi et al. (2003) identified a heterozygous missense variant in the MASTL gene (E167D; 608221.0001) in affected members of the family with thrombocytopenia mapped to 10p by Drachman et al. (2000). </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>History</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>Naparstek et al. (1984) concluded that the mutation for autosomal dominant thrombocytopenia is not linked to HLA. </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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<div>
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<h4>
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<span class="mim-font">
|
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<strong>See Also:</strong>
|
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</span>
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</h4>
|
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<span class="mim-text-font">
|
|
Danielsson et al. (1980); Grottum and Solum (1969); Kurstjens et al.
|
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(1967); Murphy (1972); Myllyla et al. (1967); Quick and Hussey (1963)
|
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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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<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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Ata, M., Fisher, O. D., Holman, C. A.
|
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<strong>Inherited thrombocytopenia.</strong>
|
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Lancet 285: 119-123, 1965. Note: Originally Volume I.
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[PubMed: 4161668]
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[Full Text: https://doi.org/10.1016/s0140-6736(65)91087-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bethard, W. F., Boyer, J. L.
|
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<strong>Familial thrombocytopenia. (Abstract)</strong>
|
|
J. Lab. Clin. Med. 64: 842 only, 1964.
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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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Bithell, T. C., Didisheim, P., Cartwright, G. E., Wintrobe, M. M.
|
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<strong>Thrombocytopenia inherited as an autosomal dominant trait.</strong>
|
|
Blood 25: 231-240, 1965.
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[PubMed: 14267699]
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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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Danielsson, L., Jelf, E., Lundkvist, L.
|
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<strong>A new family with inherited thrombocytopenia.</strong>
|
|
Scand. J. Haemat. 24: 427-429, 1980.
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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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Drachman, J. G., Jarvik, G. P., Mehaffey, M. G.
|
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<strong>Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.</strong>
|
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Blood 96: 118-125, 2000.
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[PubMed: 10891439]
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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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Gandhi, M. J., Cummings, C. L., Drachman, J. G.
|
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<strong>FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.</strong>
|
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Hum. Hered. 55: 66-70, 2003.
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[PubMed: 12890928]
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[Full Text: https://doi.org/10.1159/000071812]
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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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Grottum, K. A., Solum, N. O.
|
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<strong>Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane.</strong>
|
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Brit. J. Haemat. 16: 277-290, 1969.
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[PubMed: 4893927]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1969.tb00402.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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Harms, D., Sachs, V.
|
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<strong>Familial chronic thrombocytopenia with platelet autoantibodies.</strong>
|
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Acta Haemat. 34: 30-35, 1965.
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[PubMed: 4953957]
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[Full Text: https://doi.org/10.1159/000209427]
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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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Helmerhorst, F. M., Heaton, D. C., Crossen, P. E., von dem Borne, A. E. G. K., Engelfriet, C. P., Natarajan, A. T.
|
|
<strong>Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage.</strong>
|
|
Hum. Genet. 65: 252-256, 1984.
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[PubMed: 6421717]
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[Full Text: https://doi.org/10.1007/BF00286512]
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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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Iolascon, A., Perrotta, S., Amendola, G., Altomare, M., Bagnara, G. P., Del Vecchio, M. E., Savoia, A.
|
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<strong>Familial dominant thrombocytopenia: clinical, biologic, and molecular studies.</strong>
|
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Pediat. Res. 46: 548-552, 1999.
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[PubMed: 10541317]
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[Full Text: https://doi.org/10.1203/00006450-199911000-00010]
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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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Kurstjens, R., Bolt, C., Haanen, C. A.
|
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<strong>Familiale thrombocytopenia.</strong>
|
|
Nederl. T. Geneesk. 111: 1897-1898, 1967.
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[PubMed: 6066662]
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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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Majado, M. J., Gonzalez, C., Tamayo, M., Sanchez, A., Moreno, M.
|
|
<strong>Effective splenectomy in familial isolated thrombocytopenia. (Letter)</strong>
|
|
Am. J. Hemat. 39: 70 only, 1992.
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[PubMed: 1536144]
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[Full Text: https://doi.org/10.1002/ajh.2830390117]
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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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Murphy, L., Mead, A. J.
|
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<strong>Familial thrombocytopenia: the long and short of it.</strong>
|
|
J. Exp. Med. 218: e20210604, 2021.
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[PubMed: 34014260]
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[Full Text: https://doi.org/10.1084/jem.20210604]
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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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Murphy, S., Oski, F. A., Gardner, F. H.
|
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<strong>Hereditary thrombocytopenia with an intrinsic platelet defect.</strong>
|
|
New Eng. J. Med. 281: 857-862, 1969.
|
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[PubMed: 5818100]
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[Full Text: https://doi.org/10.1056/NEJM196910162811601]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Murphy, S.
|
|
<strong>Hereditary thrombocytopenia.</strong>
|
|
Clin. Haemat. 2: 359-368, 1972.
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|
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</p>
|
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</li>
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|
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<li>
|
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<p class="mim-text-font">
|
|
Myllyla, G., Pelkonen, R., Ikkala, E., Apajalahti, J.
|
|
<strong>Hereditary thrombocytopenia: report of three families.</strong>
|
|
Scand. J. Haemat. 4: 441-452, 1967.
|
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|
|
[PubMed: 6082223]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Najean, Y., Lecompte, T.
|
|
<strong>Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases.</strong>
|
|
Brit. J. Haemat. 74: 203-208, 1990.
|
|
|
|
|
|
[PubMed: 2317455]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.1990.tb02566.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">
|
|
Naparstek, Y., Abrahamov, A., Cohen, T., Brautbar, C.
|
|
<strong>Familial hereditary thrombocytopenia and HLA.</strong>
|
|
Am. J. Hemat. 17: 113-116, 1984.
|
|
|
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|
|
[PubMed: 6465131]
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[Full Text: https://doi.org/10.1002/ajh.2830170203]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Pippucci, T., Savoia, A., Perrotta, S., Pujol-Moix, N., Noris, P., Castegnaro, G., Pecci, A., Gnan, C., Punzo, F., Marconi, C., Gherardi, S., Loffredo, G., and 11 others.
|
|
<strong>Mutations in the 5-prime UTR of ANKRD26, the ankirin (sic) repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.</strong>
|
|
Am. J. Hum. Genet. 88: 115-120, 2011.
|
|
|
|
|
|
[PubMed: 21211618]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.12.006]
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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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Punzo, F., Mientjes, E. J., Rohe, C. F., Scianguetta, S., Amendola, G., Oostra, B. A., Bertoli-Avella, A. M., Perrotta, S.
|
|
<strong>A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia.</strong>
|
|
J. Thromb. Haemost. 8: 2085-2087, 2010.
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|
|
[PubMed: 20626622]
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[Full Text: https://doi.org/10.1111/j.1538-7836.2010.03979.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">
|
|
Quick, A. J., Hussey, C. V.
|
|
<strong>Hereditary thrombopathic thrombocytopenia.</strong>
|
|
Am. J. Med. Sci. 245: 643-653, 1963.
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|
[PubMed: 13972751]
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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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Savoia, A., Del Vecchio, M., Totaro, A., Perrotta, S., Amendola, G., Moretti, A., Zelante, L., Iolascon, A.
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<strong>An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.</strong>
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Am. J. Hum. Genet. 65: 1401-1405, 1999.
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[PubMed: 10521306]
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[Full Text: https://doi.org/10.1086/302637]
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<p class="mim-text-font">
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Seip, M.
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<strong>Hereditary hypoplastic thrombocytopenia.</strong>
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Acta Paediat. (Stockh.) 52: 370-376, 1963.
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[PubMed: 13992635]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1963.tb03795.x]
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<li>
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Stavem, P., Abrahamsen, A. F., Vartdal, F., Nordhagen, R., Rootwelt, K.
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<strong>Hereditary thrombocytopenia with excessively prolonged bleeding time, corrected by infusions of platelet poor plasma.</strong>
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Scand. J. Haemat. 37: 210-214, 1986.
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[PubMed: 3787172]
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[Full Text: https://doi.org/10.1111/j.1600-0609.1986.tb02299.x]
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</li>
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<li>
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<p class="mim-text-font">
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Stavem, P., Jeremic, M., Hjort, P. F., Wisloff, F., Vogt, E., Oyen, R., Abrahamsen, A. F., Sovde, A.
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<strong>Hereditary thrombocytopenia with excessively prolonged bleeding time.</strong>
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Scand. J. Haemat. 6: 250-261, 1969.
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[PubMed: 5348279]
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[Full Text: https://doi.org/10.1111/j.1600-0609.1969.tb02405.x]
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</p>
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</li>
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<li>
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Wahlster, L., Verboon, J. M., Ludwig, L. S., Black, S. C., Luo, W., Garg, K., Voit, R. A., Collins, R. L., Garimella, K., Costello, M., Chao, K. R., Goodrich, J. K., DiTroia, S. P., O'Donnell-Luria, A., Talkowski, M. E., Michelson, A. D., Cantor, A. B., Sankaran, V. G.
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<strong>Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.</strong>
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J. Exp. Med. 218: e20210444, 2021.
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[PubMed: 33857290]
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[Full Text: https://doi.org/10.1084/jem.20210444]
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<li>
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Woolley, E. J. S.
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<strong>Familial idiopathic thrombocytopenic purpura.</strong>
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Brit. Med. J. 1: 440 only, 1956.
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[PubMed: 13284352]
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[Full Text: https://doi.org/10.1136/bmj.1.4964.440]
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Contributors:
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Hilary J. Vernon - updated : 09/24/2021<br>Cassandra L. Kniffin - updated : 2/2/2011<br>Victor A. McKusick - updated : 10/31/2003<br>Victor A. McKusick - updated : 9/27/2000<br>Victor A. McKusick - updated : 1/7/2000<br>Victor A. McKusick - updated : 11/15/1999
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Victor A. McKusick : 6/2/1986
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