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Entry
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- #313900 - THROMBOCYTOPENIA 1; THC1
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- OMIM
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<span class="h4">#313900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/313900"><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="#mapping">Mapping</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<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=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><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8690&Typ=Pat" title="X-linked thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked thrombocytopenia … </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1178/" 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/7084" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=313900[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=268322" title="Hereditary thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hereditary thrombocytopeni…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=852" title="X-linked thrombocytopenia with normal platelets" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked thrombocytopenia …</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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</div>
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</a>
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</span>
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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/313900" 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/OMIA001001/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">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 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:313900" 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 class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 268322, 852<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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313900
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</span>
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</span>
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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 1; THC1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
THC<br />
|
|
THROMBOCYTOPENIA, X-LINKED; XLT<br />
|
|
THROMBOCYTOPENIA, X-LINKED, 1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/X/253?start=-3&limit=10&highlight=253">
|
|
Xp11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombocytopenia, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> 313900 </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">
|
|
WAS
|
|
</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">
|
|
Thrombocytopenia, X-linked, intermittent
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313900"> 313900 </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">
|
|
WAS
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300392"> 300392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/313900" 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/313900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/313900" 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">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemarthroses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81808003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Transient eczema <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839169</a>]</span><br /> -
|
|
Petechiae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271813007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271813007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50091001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50091001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423716004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423716004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241144</a>, <a href="https://bioportal.bioontology.org/search?q=C0031256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031256</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000967</a>]</span><br /> -
|
|
Easy bruisability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hematoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35566002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35566002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/385494008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">385494008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Small platelets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005537</a>]</span><br /> -
|
|
Congenital thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/737221003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">737221003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0272278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0272278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001905" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001905</a>]</span><br /> -
|
|
Intermittent thrombocytopenia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839167</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004854" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004854</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004854" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004854</a>]</span><br /> -
|
|
Decreased mean platelet volume (MPV) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839168</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005537</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated serum IgE <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0236175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236175</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003212</a>]</span><br /> -
|
|
Elevated serum IgA <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239984</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003261</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003261</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Allelic to Wiskott-Aldrich syndrome (<a href="/entry/301000">301000</a>) and severe congenital X-linked neutropenia (<a href="/entry/300299">300299</a>)<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 WASP actin nucleation promoting factor gene (WAS, <a href="/entry/300392#0004">300392.0004</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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102630"> ACTB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102630"> 102630 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/122?start=-3&limit=10&highlight=122"> 7p15.3 </a>
|
|
|
|
</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>
|
|
</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>
|
|
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<span class="mim-font">
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<a href="/entry/188000"> 188000 </a>
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<span class="mim-font">
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<a href="/entry/610855"> ANKRD26 </a>
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<span class="mim-font">
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<a href="/entry/610855"> 610855 </a>
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<span class="mim-font">
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<a href="/geneMap/10/629?start=-3&limit=10&highlight=629"> 10q26.13 </a>
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<span class="mim-font">
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<a href="/entry/619130"> Thrombocytopenia, autosomal dominant, 7 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/619130"> 619130 </a>
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<span class="mim-font">
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<a href="/entry/606238"> IKZF5 </a>
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<span class="mim-font">
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<a href="/entry/606238"> 606238 </a>
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<span class="mim-font">
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<a href="/geneMap/11/375?start=-3&limit=10&highlight=375"> 11p11.2 </a>
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<span class="mim-font">
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<a href="/entry/620484"> Thrombocytopenia 10 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/620484"> 620484 </a>
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<span class="mim-font">
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<a href="/entry/600925"> PTPRJ </a>
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<span class="mim-font">
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<a href="/entry/600925"> 600925 </a>
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<a href="/geneMap/12/174?start=-3&limit=10&highlight=174"> 12p13.2 </a>
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<span class="mim-font">
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<a href="/entry/616216"> Thrombocytopenia 5 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/616216"> 616216 </a>
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<span class="mim-font">
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<a href="/entry/600618"> ETV6 </a>
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<span class="mim-font">
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<a href="/entry/600618"> 600618 </a>
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<a href="/geneMap/12/602?start=-3&limit=10&highlight=602"> 12q15 </a>
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<span class="mim-font">
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<a href="/entry/620654"> Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/620654"> 620654 </a>
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<span class="mim-font">
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<a href="/entry/179530"> RAP1B </a>
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<span class="mim-font">
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<a href="/entry/179530"> 179530 </a>
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<a href="/geneMap/20/268?start=-3&limit=10&highlight=268"> 20q11.23 </a>
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<span class="mim-font">
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<a href="/entry/616937"> ?Thrombocytopenia 6 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/616937"> 616937 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/190090"> SRC </a>
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<td>
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<span class="mim-font">
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<a href="/entry/190090"> 190090 </a>
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<span class="mim-font">
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<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/313900"> Thrombocytopenia, X-linked </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/313900"> 313900 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300392"> WAS </a>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300392"> 300392 </a>
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<span class="mim-font">
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<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/313900"> Thrombocytopenia, X-linked, intermittent </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/313900"> 313900 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300392"> WAS </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300392"> 300392 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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<br />
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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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</h4>
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because of evidence that X-linked thrombocytopenia (THC1) is caused by mutation in the WAS gene (<a href="/entry/300392">300392</a>) on Xp11.</p></div>
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<div class="mim-changed mim-change"><p>Wiskott-Aldrich syndrome-1 (WAS1; <a href="/entry/301000">301000</a>) is also caused by mutation in the WAS gene.</p></div>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by <a href="#12" class="mim-tip-reference" title="Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P. <strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong> Nature Genet. 9: 414-417, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795648</a>] [<a href="https://doi.org/10.1038/ng0495-414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7795648">Villa et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Hereditary Thrombocytopenia</em></strong></p><p>
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Autosomal dominant forms of thrombocytopenia include THC2 (<a href="/entry/188000">188000</a>), caused by mutation in the ANKRD26 (<a href="/entry/610855">610855</a>) gene on chromosome 10p12; THC4 (<a href="/entry/612004">612004</a>), caused by mutation in the CYCS gene (<a href="/entry/123970">123970</a>) on chromosome 7p15; THC5 (<a href="/entry/616216">616216</a>), caused by mutation in the ETV6 gene (<a href="/entry/600618">600618</a>) on chromosome 12p13; THC6 (<a href="/entry/616937">616937</a>), caused by mutation in the SRC gene (<a href="/entry/190090">190090</a>) on chromosome 20q11; THC7 (<a href="/entry/619130">619130</a>), caused by mutation in the IKZF5 gene (<a href="/entry/606238">606238</a>) on chromosome 10q26; THC8 (<a href="/entry/620475">620475</a>), caused by mutation in the ACTB gene (<a href="/entry/102630">102630</a>) on chromosome 7p22; THC9 (<a href="/entry/620478">620478</a>), caused by mutation in the THPO gene (<a href="/entry/600044">600044</a>) on chromosome 3q27; and THC11 (<a href="/entry/620654">620654</a>), caused by mutation in the RAP1B gene (<a href="/entry/179530">179530</a>) on chromosome 12q14.</p><p>Autosomal recessive forms include THC3 (<a href="/entry/273900">273900</a>), caused by mutation in the FYB gene (<a href="/entry/602731">602731</a>) on chromosome 5p13; THC10 (<a href="/entry/620484">620484</a>), caused by mutation in the PTPRJ gene (<a href="/entry/600925">600925</a>) on chromosome 11p11; THC12 (<a href="/entry/620757">620757</a>), caused by mutation in the GNE gene (<a href="/entry/603824">603824</a>) on chromosome 9p13; and THC13 (<a href="/entry/620776">620776</a>), caused by mutation in the GALE gene (<a href="/entry/606953">606953</a>) on chromosome 1p36.</p>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#11" class="mim-tip-reference" title="Vestermark, B., Vestermark, S. <strong>Familial sex-linked thrombocytopenia.</strong> Acta Paediat. (Stockh.) 53: 365-370, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14181113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14181113</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1964.tb07790.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14181113">Vestermark and Vestermark (1964)</a> found X-linked 'essential' thrombocytopenia in 2 generations of a family. One affected male became symptom-free spontaneously after puberty and one became symptom-free after splenectomy at the age of 18 years but died later of adrenal hemorrhage. Three other patients had, in addition to hemorrhagic diathesis, a mild tendency to infection and eczema. A probable X-linked thrombocytopenia was described by <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> in 9 males in 6 sibships in 4 generations of a kindred, connected by females. In addition, 1 female was affected. She was karyologically normal and the father had no history of bleeding. Therefore, she probably represents unfortunate lyonization. She differed from the affected males in recovering spontaneously. <a href="#3" class="mim-tip-reference" title="Canales, L., Mauer, A. M. <strong>Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome.</strong> New Eng. J. Med. 277: 899-901, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4168739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4168739</a>] [<a href="https://doi.org/10.1056/NEJM196710262771703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4168739">Canales and Mauer (1967)</a> studied a family containing 7 thrombocytopenic males in an X-linked recessive pedigree pattern. Although no eczema or undue susceptibility to infection was noted and bleeding symptoms were mild, 5 of the 7 showed reduced or absent isohemagglutinins and increased gamma-A globulin. In the 13 affected members of the kindred reported by <a href="#4" class="mim-tip-reference" title="Chiaro, J. J., Dharmkrong-At, A., Bloom, G. E. <strong>X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred.</strong> Am. J. Dis. Child. 123: 565-568, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624439</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110120089008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4624439">Chiaro et al. (1972)</a>, bleeding had its onset at about age 6 years, and spontaneous remission of 'bleeding' but not of thrombocytopenia occurred in early adult life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4168739+4624439+4161668+14181113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Inoue, H., Kurosawa, H., Nonoyama, S., Imai, K., Kumazaki, H., Matsunaga, T., Sato, Y., Sugita, K., Eguchi, M. <strong>X-linked thrombocytopenia in a girl.</strong> Brit. J. Haemat. 118: 1163-1165, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199801</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03740.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12199801">Inoue et al. (2002)</a> reported what they believed to be the first confirmed report of XLT in a female. The 6-year-old girl, who had petechiae and thrombocytopenia from the age of 3 months, had a WASP mutation (<a href="/entry/300392#0016">300392.0016</a>) and her WASP expression levels were one-third those of a healthy control. The patient's lymphocytes showed a random pattern of X-chromosome inactivation. Her 2-year-old brother also had XLT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12199801" 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>Intermittent X-Linked Thrombocytopenia</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Notarangelo, L. D., Mazza, C., Giliani, S., D'Aria, C., Gandellini, F., Ravelli, C., Locatelli, M. G., Nelson, D. L., Ochs, H. D., Notarangelo, L. D. <strong>Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.</strong> Blood 99: 2268-2269, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11877312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11877312</a>] [<a href="https://doi.org/10.1182/blood.v99.6.2268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11877312">Notarangelo et al. (2002)</a> reported 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other clinical features, and carried missense mutations in the WASP gene that allowed substantial protein expression (<a href="/entry/300392#0013">300392.0013</a>, <a href="/entry/300392#0014">300392.0014</a>). The authors stated that the phenotype represented the mildest consequence of WASP mutations; because none of the affected males had serious problems, no treatment was indicated. The authors suggested that males with persistently low mean platelet volume must be considered for mutation analysis at the WASP locus, regardless of the platelet count. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11877312" 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>Similarities to Wiskott-Aldrich syndrome</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Cohn, J., Hauge, M., Andersen, V., Kenningsen, K., Nielsen, L. S., Thomsen, M., Iversen, T. <strong>Sex-linked hereditary thrombocytopenia with immunological defects.</strong> Hum. Hered. 25: 309-317, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1184018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1184018</a>] [<a href="https://doi.org/10.1159/000152741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1184018">Cohn et al. (1975)</a> provided follow-up on the kindred of <a href="#11" class="mim-tip-reference" title="Vestermark, B., Vestermark, S. <strong>Familial sex-linked thrombocytopenia.</strong> Acta Paediat. (Stockh.) 53: 365-370, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14181113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14181113</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1964.tb07790.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14181113">Vestermark and Vestermark (1964)</a>. They found evidence of an immunologic defect, thus raising questions of the distinctness of the disorder from Wiskott Aldrich syndrome and from the condition described in entry <a href="/entry/314000">314000</a>. <a href="#6" class="mim-tip-reference" title="Donner, M., Schwartz, M., Carlsson, K. U., Holmberg, L. <strong>Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.</strong> Blood 72: 1849-1853, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904289</a>]" pmid="2904289">Donner et al. (1988)</a> also suggested that X-linked thrombocytopenia and WAS may be related disorders. They studied a family in which 8 males had thrombocytopenia associated with reduced platelet volume, a feature found also in WAS, but no immunodeficiency. Linkage analysis in this family demonstrated linkage of the disorder to the region of Xp where the WAS locus maps. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2904289+1184018+14181113" 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="#8" class="mim-tip-reference" title="Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E. <strong>X linked recessive thrombocytopenia.</strong> J. Med. Genet. 30: 968-969, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301658</a>] [<a href="https://doi.org/10.1136/jmg.30.11.968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8301658">Knox-Macaulay et al. (1993)</a> described a Saudi Arabian family in which 3 brothers presented in early childhood with thrombocytopenia but without immunologic abnormalities. Results of DNA analysis with the probe M27-beta were consistent with X-linkage and indicated also that the locus of the relevant gene lies close to or is identical to the WAS locus. However, there were distinguishing features which included the presence of large and normal-sized platelets (rather than small platelets) and, as stated, freedom from immune deficiency. Mean platelet volume was increased and the bone marrow showed increased numbers of megakaryocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8301658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family in which 8 males had X-linked thrombocytopenia, <a href="#6" class="mim-tip-reference" title="Donner, M., Schwartz, M., Carlsson, K. U., Holmberg, L. <strong>Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.</strong> Blood 72: 1849-1853, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904289</a>]" pmid="2904289">Donner et al. (1988)</a> found linkage of the disorder to DXS146, a marker on the proximal part of Xp (maximum lod = 3.42 at theta = 0.00); the WAS locus maps to the same region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2904289" 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="#12" class="mim-tip-reference" title="Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P. <strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong> Nature Genet. 9: 414-417, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795648</a>] [<a href="https://doi.org/10.1038/ng0495-414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7795648">Villa et al. (1995)</a> presented clear evidence that X-linked thrombocytopenia is a disorder allelic to Wiskott-Aldrich syndrome. They found 3 different mutations in the WAS gene in 3 unrelated males with isolated thrombocytopenia and small-sized platelets (<a href="/entry/300392#0004">300392.0004</a>-<a href="/entry/300392#0006">300392.0006</a>). None of the 3 patients had other features of the Wiskott-Aldrich syndrome, and none of the 3 mutations had been found in patients with the Wiskott-Aldrich syndrome. Why some mutations impair only the megakaryocytic lineage whereas others affect the lymphoid lineage as well is not clear. <a href="#15" class="mim-tip-reference" title="Zhu, Q., Zhang, M., Blaese, R. M., Derry, J. M. J., Junker, A., Francke, U., Chen, S.-H., Ochs, H. D. <strong>The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.</strong> Blood 86: 3797-3804, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7579347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7579347</a>]" pmid="7579347">Zhu et al. (1995)</a> came to the same conclusion that X-linked thrombocytopenia and WAS are caused by mutations in the same gene. Patients with classic WAS had what they referred to as 'more complex' mutations, resulting in termination codons, frameshift, and early termination. Of 4 unrelated patients with the XLT phenotype, 3 had missense mutations affecting exon 2 and 1 had a splice site mutation affecting exon 9. <a href="#14" class="mim-tip-reference" title="Wengler, G. S., Notarangelo, L. D., Berardelli, S., Pollonni, G., Mella, P., Fasth, A., Ugazio, A. G., Parolini, O. <strong>High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.</strong> Blood 86: 3648-3654, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7579329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7579329</a>]" pmid="7579329">Wengler et al. (1995)</a> identified 15 novel mutations in patients with full-blown Wiskott-Aldrich syndrome. These mutations involved single basepair changes, or small insertions or deletions, all of which resulted in premature stop codon, frameshift with secondary premature stop codon, or splice site defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7579347+7579329+7795648" 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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See <a href="/entry/188000">188000</a> for discussion of a possible form of THC caused by mutation in the MASTL gene (<a href="/entry/608221">608221</a>) on chromosome 10.</p><p>For discussion of a possible association between autosomal recessive congenital thrombocytopenia and variation in the SBF2 gene, see <a href="/entry/607697">607697</a>.</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Warren, J. T., Di Paola, J. <strong>Genetics of inherited thrombocytopenias.</strong> Blood 139: 3264-3277, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35167650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35167650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35167650[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/10.1182/blood.2020009300" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35167650">Warren and Di Paola (2022)</a> reviewed the genetics of inherited thrombocytopenias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35167650" 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="#2" class="mim-tip-reference" title="Balduini, C. L., Savoia, A. <strong>Genetics of familial forms of thrombocytopenia.</strong> Hum. Genet. 131: 1821-1832, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22886561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22886561</a>] [<a href="https://doi.org/10.1007/s00439-012-1215-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22886561">Balduini and Savoia (2012)</a> reviewed the familial forms of thrombocytopenia and their molecular bases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22886561" 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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Lancet 285: 119-123, 1965. Note: Originally Volume I.
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<strong>Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome.</strong>
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|
New Eng. J. Med. 277: 899-901, 1967.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4168739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4168739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4168739" 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/10.1056/NEJM196710262771703" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Chiaro1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chiaro, J. J., Dharmkrong-At, A., Bloom, G. E.
|
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<strong>X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred.</strong>
|
|
Am. J. Dis. Child. 123: 565-568, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4624439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4624439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4624439" 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/10.1001/archpedi.1972.02110120089008" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Cohn1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cohn, J., Hauge, M., Andersen, V., Kenningsen, K., Nielsen, L. S., Thomsen, M., Iversen, T.
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<strong>Sex-linked hereditary thrombocytopenia with immunological defects.</strong>
|
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Hum. Hered. 25: 309-317, 1975.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1184018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1184018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1184018" 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/10.1159/000152741" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Donner1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Donner, M., Schwartz, M., Carlsson, K. U., Holmberg, L.
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<strong>Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.</strong>
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Blood 72: 1849-1853, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904289</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2904289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Inoue2002" class="mim-anchor"></a>
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Inoue, H., Kurosawa, H., Nonoyama, S., Imai, K., Kumazaki, H., Matsunaga, T., Sato, Y., Sugita, K., Eguchi, M.
|
|
<strong>X-linked thrombocytopenia in a girl.</strong>
|
|
Brit. J. Haemat. 118: 1163-1165, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12199801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12199801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12199801" 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/10.1046/j.1365-2141.2002.03740.x" target="_blank">Full Text</a>]
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<a id="Knox-Macaulay1993" class="mim-anchor"></a>
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Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E.
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<strong>X linked recessive thrombocytopenia.</strong>
|
|
J. Med. Genet. 30: 968-969, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8301658" 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/jmg.30.11.968" target="_blank">Full Text</a>]
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<a id="Moore1974" class="mim-anchor"></a>
|
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|
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|
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Moore, J. R.
|
|
<strong>X-linked idiopathic thrombocytopenia.</strong>
|
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Clin. Genet. 5: 344-350, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4859587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4859587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4859587" 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.1399-0004.1974.tb01704.x" target="_blank">Full Text</a>]
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Notarangelo, L. D., Mazza, C., Giliani, S., D'Aria, C., Gandellini, F., Ravelli, C., Locatelli, M. G., Nelson, D. L., Ochs, H. D., Notarangelo, L. D.
|
|
<strong>Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.</strong>
|
|
Blood 99: 2268-2269, 2002.
|
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11877312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11877312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11877312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood.v99.6.2268" target="_blank">Full Text</a>]
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<a id="Vestermark1964" class="mim-anchor"></a>
|
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<div class="">
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Vestermark, B., Vestermark, S.
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<strong>Familial sex-linked thrombocytopenia.</strong>
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Acta Paediat. (Stockh.) 53: 365-370, 1964.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14181113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14181113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14181113" 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.1651-2227.1964.tb07790.x" target="_blank">Full Text</a>]
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<a id="Villa1995" class="mim-anchor"></a>
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Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P.
|
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<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong>
|
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Nature Genet. 9: 414-417, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0495-414" target="_blank">Full Text</a>]
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<a id="Warren2022" class="mim-anchor"></a>
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Warren, J. T., Di Paola, J.
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<strong>Genetics of inherited thrombocytopenias.</strong>
|
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Blood 139: 3264-3277, 2022.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35167650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35167650</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35167650[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=35167650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood.2020009300" target="_blank">Full Text</a>]
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<a id="Wengler1995" class="mim-anchor"></a>
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Wengler, G. S., Notarangelo, L. D., Berardelli, S., Pollonni, G., Mella, P., Fasth, A., Ugazio, A. G., Parolini, O.
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<strong>High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.</strong>
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Blood 86: 3648-3654, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7579329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7579329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7579329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zhu, Q., Zhang, M., Blaese, R. M., Derry, J. M. J., Junker, A., Francke, U., Chen, S.-H., Ochs, H. D.
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<strong>The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.</strong>
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Blood 86: 3797-3804, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7579347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7579347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7579347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Victor A. McKusick - updated : 10/21/2002
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Cassandra L. Kniffin - reorganized : 5/13/2002<br>Victor A. McKusick - updated : 12/13/2001
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Victor A. McKusick : 6/4/1986
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alopez : 04/05/2024<br>ckniffin : 04/03/2024<br>alopez : 03/20/2024<br>ckniffin : 03/18/2024<br>carol : 12/19/2023<br>ckniffin : 12/17/2023<br>alopez : 08/28/2023<br>ckniffin : 08/25/2023<br>carol : 08/24/2023<br>alopez : 08/24/2023<br>ckniffin : 08/21/2023<br>carol : 05/01/2023<br>carol : 04/28/2023<br>carol : 04/27/2023<br>alopez : 04/26/2023<br>ckniffin : 04/24/2023<br>carol : 12/23/2020<br>ckniffin : 12/21/2020<br>carol : 04/21/2017<br>ckniffin : 04/19/2017<br>alopez : 05/04/2016<br>ckniffin : 5/3/2016<br>carol : 2/9/2015<br>carol : 2/6/2015<br>mcolton : 2/5/2015<br>ckniffin : 2/5/2015<br>carol : 7/22/2014<br>wwang : 2/24/2011<br>ckniffin : 2/2/2011<br>terry : 5/11/2010<br>terry : 3/31/2009<br>terry : 2/12/2009<br>alopez : 4/23/2008<br>carol : 10/22/2002<br>tkritzer : 10/21/2002<br>tkritzer : 10/21/2002<br>alopez : 5/21/2002<br>carol : 5/13/2002<br>ckniffin : 5/10/2002<br>carol : 1/4/2002<br>mcapotos : 12/17/2001<br>terry : 12/13/2001<br>carol : 1/24/2000<br>carol : 1/24/2000<br>alopez : 6/21/1999<br>carol : 10/20/1998<br>dkim : 9/10/1998<br>mark : 2/5/1996<br>terry : 1/25/1996<br>mark : 4/25/1995<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>carol : 9/8/1990<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<div>
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<h3>
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<span class="mim-font">
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THROMBOCYTOPENIA 1; THC1
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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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THC<br />
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THROMBOCYTOPENIA, X-LINKED; XLT<br />
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THROMBOCYTOPENIA, X-LINKED, 1
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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-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED
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</span>
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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> 268322, 852;
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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">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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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Xp11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Thrombocytopenia, X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
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313900
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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WAS
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</span>
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</td>
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<td>
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<span class="mim-font">
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300392
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Xp11.23
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</span>
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</td>
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<td>
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<span class="mim-font">
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Thrombocytopenia, X-linked, intermittent
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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313900
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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X-linked recessive
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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WAS
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
300392
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<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>TEXT</strong>
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</span>
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</h4>
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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 X-linked thrombocytopenia (THC1) is caused by mutation in the WAS gene (300392) on Xp11.</p><p>Wiskott-Aldrich syndrome-1 (WAS1; 301000) is also caused by mutation in the WAS gene.</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>Description</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>Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). </p><p><strong><em>Genetic Heterogeneity of Hereditary Thrombocytopenia</em></strong></p><p>
|
|
Autosomal dominant forms of thrombocytopenia include THC2 (188000), caused by mutation in the ANKRD26 (610855) gene on chromosome 10p12; THC4 (612004), caused by mutation in the CYCS gene (123970) on chromosome 7p15; THC5 (616216), caused by mutation in the ETV6 gene (600618) on chromosome 12p13; THC6 (616937), caused by mutation in the SRC gene (190090) on chromosome 20q11; THC7 (619130), caused by mutation in the IKZF5 gene (606238) on chromosome 10q26; THC8 (620475), caused by mutation in the ACTB gene (102630) on chromosome 7p22; THC9 (620478), caused by mutation in the THPO gene (600044) on chromosome 3q27; and THC11 (620654), caused by mutation in the RAP1B gene (179530) on chromosome 12q14.</p><p>Autosomal recessive forms include THC3 (273900), caused by mutation in the FYB gene (602731) on chromosome 5p13; THC10 (620484), caused by mutation in the PTPRJ gene (600925) on chromosome 11p11; THC12 (620757), caused by mutation in the GNE gene (603824) on chromosome 9p13; and THC13 (620776), caused by mutation in the GALE gene (606953) on chromosome 1p36.</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>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Vestermark and Vestermark (1964) found X-linked 'essential' thrombocytopenia in 2 generations of a family. One affected male became symptom-free spontaneously after puberty and one became symptom-free after splenectomy at the age of 18 years but died later of adrenal hemorrhage. Three other patients had, in addition to hemorrhagic diathesis, a mild tendency to infection and eczema. A probable X-linked thrombocytopenia was described by Ata et al. (1965) in 9 males in 6 sibships in 4 generations of a kindred, connected by females. In addition, 1 female was affected. She was karyologically normal and the father had no history of bleeding. Therefore, she probably represents unfortunate lyonization. She differed from the affected males in recovering spontaneously. Canales and Mauer (1967) studied a family containing 7 thrombocytopenic males in an X-linked recessive pedigree pattern. Although no eczema or undue susceptibility to infection was noted and bleeding symptoms were mild, 5 of the 7 showed reduced or absent isohemagglutinins and increased gamma-A globulin. In the 13 affected members of the kindred reported by Chiaro et al. (1972), bleeding had its onset at about age 6 years, and spontaneous remission of 'bleeding' but not of thrombocytopenia occurred in early adult life. </p><p>Inoue et al. (2002) reported what they believed to be the first confirmed report of XLT in a female. The 6-year-old girl, who had petechiae and thrombocytopenia from the age of 3 months, had a WASP mutation (300392.0016) and her WASP expression levels were one-third those of a healthy control. The patient's lymphocytes showed a random pattern of X-chromosome inactivation. Her 2-year-old brother also had XLT. </p><p><strong><em>Intermittent X-Linked Thrombocytopenia</em></strong></p><p>
|
|
Notarangelo et al. (2002) reported 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other clinical features, and carried missense mutations in the WASP gene that allowed substantial protein expression (300392.0013, 300392.0014). The authors stated that the phenotype represented the mildest consequence of WASP mutations; because none of the affected males had serious problems, no treatment was indicated. The authors suggested that males with persistently low mean platelet volume must be considered for mutation analysis at the WASP locus, regardless of the platelet count. </p><p><strong><em>Similarities to Wiskott-Aldrich syndrome</em></strong></p><p>
|
|
Cohn et al. (1975) provided follow-up on the kindred of Vestermark and Vestermark (1964). They found evidence of an immunologic defect, thus raising questions of the distinctness of the disorder from Wiskott Aldrich syndrome and from the condition described in entry 314000. Donner et al. (1988) also suggested that X-linked thrombocytopenia and WAS may be related disorders. They studied a family in which 8 males had thrombocytopenia associated with reduced platelet volume, a feature found also in WAS, but no immunodeficiency. Linkage analysis in this family demonstrated linkage of the disorder to the region of Xp where the WAS locus maps. </p><p>Knox-Macaulay et al. (1993) described a Saudi Arabian family in which 3 brothers presented in early childhood with thrombocytopenia but without immunologic abnormalities. Results of DNA analysis with the probe M27-beta were consistent with X-linkage and indicated also that the locus of the relevant gene lies close to or is identical to the WAS locus. However, there were distinguishing features which included the presence of large and normal-sized platelets (rather than small platelets) and, as stated, freedom from immune deficiency. Mean platelet volume was increased and the bone marrow showed increased numbers of megakaryocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a family in which 8 males had X-linked thrombocytopenia, Donner et al. (1988) found linkage of the disorder to DXS146, a marker on the proximal part of Xp (maximum lod = 3.42 at theta = 0.00); the WAS locus maps to the same region. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Villa et al. (1995) presented clear evidence that X-linked thrombocytopenia is a disorder allelic to Wiskott-Aldrich syndrome. They found 3 different mutations in the WAS gene in 3 unrelated males with isolated thrombocytopenia and small-sized platelets (300392.0004-300392.0006). None of the 3 patients had other features of the Wiskott-Aldrich syndrome, and none of the 3 mutations had been found in patients with the Wiskott-Aldrich syndrome. Why some mutations impair only the megakaryocytic lineage whereas others affect the lymphoid lineage as well is not clear. Zhu et al. (1995) came to the same conclusion that X-linked thrombocytopenia and WAS are caused by mutations in the same gene. Patients with classic WAS had what they referred to as 'more complex' mutations, resulting in termination codons, frameshift, and early termination. Of 4 unrelated patients with the XLT phenotype, 3 had missense mutations affecting exon 2 and 1 had a splice site mutation affecting exon 9. Wengler et al. (1995) identified 15 novel mutations in patients with full-blown Wiskott-Aldrich syndrome. These mutations involved single basepair changes, or small insertions or deletions, all of which resulted in premature stop codon, frameshift with secondary premature stop codon, or splice site defect. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
See 188000 for discussion of a possible form of THC caused by mutation in the MASTL gene (608221) on chromosome 10.</p><p>For discussion of a possible association between autosomal recessive congenital thrombocytopenia and variation in the SBF2 gene, see 607697.</p><p><strong><em>Reviews</em></strong></p><p>
|
|
Warren and Di Paola (2022) reviewed the genetics of inherited thrombocytopenias. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Balduini and Savoia (2012) reviewed the familial forms of thrombocytopenia and their molecular bases. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Moore (1974)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ata, M., Fisher, O. D., Holman, C. A.
|
|
<strong>Inherited thrombocytopenia.</strong>
|
|
Lancet 285: 119-123, 1965. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4161668]
|
|
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|
|
[Full Text: https://doi.org/10.1016/s0140-6736(65)91087-1]
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Balduini, C. L., Savoia, A.
|
|
<strong>Genetics of familial forms of thrombocytopenia.</strong>
|
|
Hum. Genet. 131: 1821-1832, 2012.
|
|
|
|
|
|
[PubMed: 22886561]
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|
|
[Full Text: https://doi.org/10.1007/s00439-012-1215-x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Canales, L., Mauer, A. M.
|
|
<strong>Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome.</strong>
|
|
New Eng. J. Med. 277: 899-901, 1967.
|
|
|
|
|
|
[PubMed: 4168739]
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|
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[Full Text: https://doi.org/10.1056/NEJM196710262771703]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiaro, J. J., Dharmkrong-At, A., Bloom, G. E.
|
|
<strong>X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred.</strong>
|
|
Am. J. Dis. Child. 123: 565-568, 1972.
|
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|
|
[PubMed: 4624439]
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[Full Text: https://doi.org/10.1001/archpedi.1972.02110120089008]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cohn, J., Hauge, M., Andersen, V., Kenningsen, K., Nielsen, L. S., Thomsen, M., Iversen, T.
|
|
<strong>Sex-linked hereditary thrombocytopenia with immunological defects.</strong>
|
|
Hum. Hered. 25: 309-317, 1975.
|
|
|
|
|
|
[PubMed: 1184018]
|
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|
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|
|
[Full Text: https://doi.org/10.1159/000152741]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Donner, M., Schwartz, M., Carlsson, K. U., Holmberg, L.
|
|
<strong>Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.</strong>
|
|
Blood 72: 1849-1853, 1988.
|
|
|
|
|
|
[PubMed: 2904289]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inoue, H., Kurosawa, H., Nonoyama, S., Imai, K., Kumazaki, H., Matsunaga, T., Sato, Y., Sugita, K., Eguchi, M.
|
|
<strong>X-linked thrombocytopenia in a girl.</strong>
|
|
Brit. J. Haemat. 118: 1163-1165, 2002.
|
|
|
|
|
|
[PubMed: 12199801]
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|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.2002.03740.x]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Knox-Macaulay, H. H. M., Bashawri, L., Davies, K. E.
|
|
<strong>X linked recessive thrombocytopenia.</strong>
|
|
J. Med. Genet. 30: 968-969, 1993.
|
|
|
|
|
|
[PubMed: 8301658]
|
|
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|
|
[Full Text: https://doi.org/10.1136/jmg.30.11.968]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moore, J. R.
|
|
<strong>X-linked idiopathic thrombocytopenia.</strong>
|
|
Clin. Genet. 5: 344-350, 1974.
|
|
|
|
|
|
[PubMed: 4859587]
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|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01704.x]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Notarangelo, L. D., Mazza, C., Giliani, S., D'Aria, C., Gandellini, F., Ravelli, C., Locatelli, M. G., Nelson, D. L., Ochs, H. D., Notarangelo, L. D.
|
|
<strong>Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.</strong>
|
|
Blood 99: 2268-2269, 2002.
|
|
|
|
|
|
[PubMed: 11877312]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.v99.6.2268]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Vestermark, B., Vestermark, S.
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<strong>Familial sex-linked thrombocytopenia.</strong>
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Acta Paediat. (Stockh.) 53: 365-370, 1964.
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[PubMed: 14181113]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1964.tb07790.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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Villa, A., Notarangelo, L., Macchi, P., Mantuano, E., Cavagni, G., Brugnoni, D., Strina, D., Patrosso, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A., Vezzoni, P.
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<strong>X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.</strong>
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Nature Genet. 9: 414-417, 1995.
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[PubMed: 7795648]
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[Full Text: https://doi.org/10.1038/ng0495-414]
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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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Warren, J. T., Di Paola, J.
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<strong>Genetics of inherited thrombocytopenias.</strong>
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Blood 139: 3264-3277, 2022.
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[PubMed: 35167650]
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[Full Text: https://doi.org/10.1182/blood.2020009300]
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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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Wengler, G. S., Notarangelo, L. D., Berardelli, S., Pollonni, G., Mella, P., Fasth, A., Ugazio, A. G., Parolini, O.
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<strong>High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.</strong>
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Blood 86: 3648-3654, 1995.
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[PubMed: 7579329]
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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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Zhu, Q., Zhang, M., Blaese, R. M., Derry, J. M. J., Junker, A., Francke, U., Chen, S.-H., Ochs, H. D.
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<strong>The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.</strong>
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Blood 86: 3797-3804, 1995.
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[PubMed: 7579347]
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Victor A. McKusick - updated : 10/21/2002<br>Cassandra L. Kniffin - reorganized : 5/13/2002<br>Victor A. McKusick - updated : 12/13/2001
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Victor A. McKusick : 6/4/1986
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