2367 lines
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Entry
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- #300367 - THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
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- OMIM
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<p>
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<span class="h4">#300367</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/300367"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10904&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1364/" 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/8451" 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/dyserythropoietic-anemia-and-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=300367[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67044" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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/300367" 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://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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 67044<br />
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<strong>DO:</strong> 1588<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300367
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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, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
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</span>
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</h3>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/256?start=-3&limit=10&highlight=256">
|
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Xp11.23
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
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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/300367"> 300367 </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 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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GATA1
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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/305371"> 305371 </a>
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</span>
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</td>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300367" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/300367" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/300367" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Nose </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
</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">
|
|
|
|
- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Macrothrombocytes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/134203001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">134203001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427566</a>]</span><br /> -
|
|
Platelets have paucity of granules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550790</a>]</span><br /> -
|
|
Platelets had abnormal membrane complexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550791</a>]</span><br /> -
|
|
Platelets have increased smooth endoplasmic reticulum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550792</a>]</span><br /> -
|
|
Abnormal platelet maturation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550793</a>]</span><br /> -
|
|
Impaired platelet function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550794</a>]</span><br /> -
|
|
Elevated thrombopoietin (TPO) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845840</a>]</span><br /> -
|
|
Increased number of abnormal megakaryocytes seen on bone marrow biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550795</a>]</span><br /> -
|
|
Anemia, dyserythropoietic (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70730006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70730006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010972</a>]</span><br /> -
|
|
Abnormal RBC morphology (anisocytosis, poikilocytes, acanthocytes) (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12222001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12222001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/790.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">790.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0391870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0391870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001877</a>]</span><br /> -
|
|
Macrothrombocytes occasionally noted in carrier female peripheral blood smear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845844</a>]</span><br />
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|
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Persistent bleeding after injury or surgery<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the GATA-binding protein-1 gene (GATA1, <a href="/entry/305371#0001">305371.0001</a>)<br />
|
|
|
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</span>
|
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</div>
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</div>
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<p>A number sign (#) is used with this entry because X-linked thrombocytopenia with or without dyserythropoietic anemia (XLTDA) is caused by mutation in the GATA1 gene (<a href="/entry/305371">305371</a>) on chromosome Xp11.</p>
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<p>XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by <a href="#4" class="mim-tip-reference" title="Millikan, P. D., Balamohan, S. M., Raskind, W. H., Kacena, M. A. <strong>Inherited thrombocytopenia due to GATA-1 mutations.</strong> Semin. Thromb. Hemost. 37: 682-689, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22102271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22102271</a>] [<a href="https://doi.org/10.1055/s-0031-1291378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22102271">Millikan et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22102271" 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="#5" class="mim-tip-reference" title="Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., Weiss, M. J. <strong>Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.</strong> Nature Genet. 24: 266-270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700180</a>] [<a href="https://doi.org/10.1038/73480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700180">Nichols et al. (2000)</a> described a woman with mild chronic thrombocytopenia who had 2 pregnancies complicated by severe fetal anemia requiring in utero red blood cell transfusions. The offspring were male half-sibs who were anemic and severely thrombocytopenic from birth. Each ultimately required a bone marrow transplant. Before transplant, peripheral blood showed a paucity of platelets and abnormal erythrocyte size and shape (poikilocytosis and anisocytosis). Bone marrow biopsy showed dyserythropoiesis and numerous small, dysplastic megakaryocytes. Electron microscopy revealed abnormal megakaryocytes with an abundance of smooth endoplasmic reticulum, eccentric nucleus, and a paucity of granules. Platelets also had a paucity of granules, abundant smooth endoplasmic reticulum, and abnormal membranous complexes. White blood cells were unaffected. Both boys had cryptorchidism. There were 3 asymptomatic female sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700180" 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="#3" class="mim-tip-reference" title="Mehaffey, M. G., Newton, A. L., Gandhi, M. J., Crossley, M., Drachman, J. G. <strong>X-linked thrombocytopenia caused by a novel mutation of GATA-1.</strong> Blood 98: 2681-2688, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11675338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11675338</a>] [<a href="https://doi.org/10.1182/blood.v98.9.2681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11675338">Mehaffey et al. (2001)</a> described a family in which 4 males in 2 generations related through female carriers had thrombocytopenia characterized by macrothrombocytopenia, profound bleeding, and mild dyserythropoiesis with no measurable anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11675338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.</strong> Blood 98: 85-92, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418466</a>] [<a href="https://doi.org/10.1182/blood.v98.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11418466">Freson et al. (2001)</a> described a family with isolated X-linked macrothrombocytopenia without anemia (but with some dyserythropoietic features) in 13 males in 9 sibships of 3 generations connected through carrier females. Electron microscopy of the patients' platelets showed giant platelets with cytoplasmic clusters consisting of smooth endoplasmic reticulum and abnormal membrane complexes. Patient platelets also showed functional defects and low expression of certain membrane glycoproteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11418466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Freson, K., Matthijs, G., Thys, C., Marien, P., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.</strong> Hum. Molec. Genet. 11: 147-152, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809723</a>] [<a href="https://doi.org/10.1093/hmg/11.2.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809723">Freson et al. (2002)</a> reported a family with X-linked thrombocytopenia and dyserythropoietic anemia in which 6 boys died of the disorder before age 2 years. One surviving boy and his mother were available for study. Peripheral blood smear from the boy showed decreased numbers of normal to giant platelets and abnormal erythrocytes, with anisocytes and poikilocytes. Electron microscopy of the platelets showed paucity of alpha-granules and clusters of smooth endoplasmic reticulum. Bone marrow biopsy showed dyserythropoiesis, dysmorphic erythroblasts, and dysplastic megakaryocytes. The mother had only a small number of enlarged platelets, but no anemia and no thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of XLTDA in the family reported by <a href="#5" class="mim-tip-reference" title="Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., Weiss, M. J. <strong>Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.</strong> Nature Genet. 24: 266-270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700180</a>] [<a href="https://doi.org/10.1038/73480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700180">Nichols et al. (2000)</a> was consistent with X-linked recessive inheritance. The mother had mild features of the disorder, which may have resulted from skewed X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700180" 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 2 male half-sibs with X-linked congenital thrombocytopenia with dyserythropoietic anemia, <a href="#5" class="mim-tip-reference" title="Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., Weiss, M. J. <strong>Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.</strong> Nature Genet. 24: 266-270, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700180</a>] [<a href="https://doi.org/10.1038/73480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700180">Nichols et al. (2000)</a> identified a hemizygous mutation in the GATA1 gene (V205M; <a href="/entry/305371#0001">305371.0001</a>). The mother, who had mild chronic thrombocytopenia and mild anemia, was heterozygous for the mutation. The findings indicated an important role for GATA1 in erythropoiesis, megakaryocyte development, and platelet formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with X-linked macrothrombocytopenia without anemia, <a href="#3" class="mim-tip-reference" title="Mehaffey, M. G., Newton, A. L., Gandhi, M. J., Crossley, M., Drachman, J. G. <strong>X-linked thrombocytopenia caused by a novel mutation of GATA-1.</strong> Blood 98: 2681-2688, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11675338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11675338</a>] [<a href="https://doi.org/10.1182/blood.v98.9.2681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11675338">Mehaffey et al. (2001)</a> identified a mutation in the GATA1 gene (G208S; <a href="/entry/305371#0003">305371.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11675338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with X-linked macrothrombocytopenia without anemia, <a href="#1" class="mim-tip-reference" title="Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.</strong> Blood 98: 85-92, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418466</a>] [<a href="https://doi.org/10.1182/blood.v98.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11418466">Freson et al. (2001)</a> identified a mutation in the GATA1 gene (D218G; <a href="/entry/305371#0002">305371.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11418466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with XLT with anemia, <a href="#2" class="mim-tip-reference" title="Freson, K., Matthijs, G., Thys, C., Marien, P., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.</strong> Hum. Molec. Genet. 11: 147-152, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809723</a>] [<a href="https://doi.org/10.1093/hmg/11.2.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809723">Freson et al. (2002)</a> identified a mutation in the GATA1 gene (D218Y; <a href="/entry/305371#0005">305371.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809723" 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>Compared to XLT individuals with the D218G mutation who did not have anemia (<a href="#1" class="mim-tip-reference" title="Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.</strong> Blood 98: 85-92, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418466</a>] [<a href="https://doi.org/10.1182/blood.v98.1.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11418466">Freson et al., 2001</a>), <a href="#2" class="mim-tip-reference" title="Freson, K., Matthijs, G., Thys, C., Marien, P., Hoylaerts, M. F., Vermylen, J., Van Geet, C. <strong>Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.</strong> Hum. Molec. Genet. 11: 147-152, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809723</a>] [<a href="https://doi.org/10.1093/hmg/11.2.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11809723">Freson et al. (2002)</a> found that those with the D218Y mutation who had anemia had more disturbed platelet and erythrocyte morphology and disturbed expression levels of the platelet GATA1-target gene products. The more severe D218Y allele (as opposed to the D218G allele) was not expressed in the platelets of an unaffected female carrier, and her leukocytes showed a skewed X-inactivation pattern. The authors concluded that the nature of the amino acid substitution at position 218 of GATA1 may be of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients, and possibly also in inducing skewed X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11809723+11418466" 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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<div class="">
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<p class="mim-text-font">
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Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M. F., Vermylen, J., Van Geet, C.
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<strong>Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.</strong>
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Blood 98: 85-92, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11418466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11418466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11418466" 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.v98.1.85" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Freson2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Freson, K., Matthijs, G., Thys, C., Marien, P., Hoylaerts, M. F., Vermylen, J., Van Geet, C.
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<strong>Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.</strong>
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Hum. Molec. Genet. 11: 147-152, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11809723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11809723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11809723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.2.147" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Mehaffey2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mehaffey, M. G., Newton, A. L., Gandhi, M. J., Crossley, M., Drachman, J. G.
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<strong>X-linked thrombocytopenia caused by a novel mutation of GATA-1.</strong>
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Blood 98: 2681-2688, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11675338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11675338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11675338" 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.v98.9.2681" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Millikan2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Millikan, P. D., Balamohan, S. M., Raskind, W. H., Kacena, M. A.
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<strong>Inherited thrombocytopenia due to GATA-1 mutations.</strong>
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Semin. Thromb. Hemost. 37: 682-689, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22102271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22102271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22102271" 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/10.1055/s-0031-1291378" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Nichols2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., Weiss, M. J.
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<strong>Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.</strong>
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Nature Genet. 24: 266-270, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700180" 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/10.1038/73480" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/28/2012
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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George E. Tiller - updated : 9/17/2002
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 12/5/2001
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 07/02/2012
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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ckniffin : 6/28/2012<br>ckniffin : 11/12/2009<br>terry : 6/2/2004<br>cwells : 9/17/2002<br>carol : 1/4/2002<br>carol : 12/5/2001
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<span class="mim-font">
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<strong>#</strong> 300367
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THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
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<strong>ORPHA:</strong> 67044;
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<strong>DO:</strong> 1588;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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<th>
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xp11.23
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<span class="mim-font">
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Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
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<span class="mim-font">
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300367
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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GATA1
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<span class="mim-font">
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305371
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because X-linked thrombocytopenia with or without dyserythropoietic anemia (XLTDA) is caused by mutation in the GATA1 gene (305371) on chromosome Xp11.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>XLTDA is an X-linked recessive hematologic disorder characterized by thrombocytopenia and abnormal platelet morphology and function due to defective platelet maturation. Some patients have a variable severity of dyserythropoietic anemia (summary by Millikan et al., 2011). </p>
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</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Nichols et al. (2000) described a woman with mild chronic thrombocytopenia who had 2 pregnancies complicated by severe fetal anemia requiring in utero red blood cell transfusions. The offspring were male half-sibs who were anemic and severely thrombocytopenic from birth. Each ultimately required a bone marrow transplant. Before transplant, peripheral blood showed a paucity of platelets and abnormal erythrocyte size and shape (poikilocytosis and anisocytosis). Bone marrow biopsy showed dyserythropoiesis and numerous small, dysplastic megakaryocytes. Electron microscopy revealed abnormal megakaryocytes with an abundance of smooth endoplasmic reticulum, eccentric nucleus, and a paucity of granules. Platelets also had a paucity of granules, abundant smooth endoplasmic reticulum, and abnormal membranous complexes. White blood cells were unaffected. Both boys had cryptorchidism. There were 3 asymptomatic female sibs. </p><p>Mehaffey et al. (2001) described a family in which 4 males in 2 generations related through female carriers had thrombocytopenia characterized by macrothrombocytopenia, profound bleeding, and mild dyserythropoiesis with no measurable anemia. </p><p>Freson et al. (2001) described a family with isolated X-linked macrothrombocytopenia without anemia (but with some dyserythropoietic features) in 13 males in 9 sibships of 3 generations connected through carrier females. Electron microscopy of the patients' platelets showed giant platelets with cytoplasmic clusters consisting of smooth endoplasmic reticulum and abnormal membrane complexes. Patient platelets also showed functional defects and low expression of certain membrane glycoproteins. </p><p>Freson et al. (2002) reported a family with X-linked thrombocytopenia and dyserythropoietic anemia in which 6 boys died of the disorder before age 2 years. One surviving boy and his mother were available for study. Peripheral blood smear from the boy showed decreased numbers of normal to giant platelets and abnormal erythrocytes, with anisocytes and poikilocytes. Electron microscopy of the platelets showed paucity of alpha-granules and clusters of smooth endoplasmic reticulum. Bone marrow biopsy showed dyserythropoiesis, dysmorphic erythroblasts, and dysplastic megakaryocytes. The mother had only a small number of enlarged platelets, but no anemia and no thrombocytopenia. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of XLTDA in the family reported by Nichols et al. (2000) was consistent with X-linked recessive inheritance. The mother had mild features of the disorder, which may have resulted from skewed X inactivation. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 male half-sibs with X-linked congenital thrombocytopenia with dyserythropoietic anemia, Nichols et al. (2000) identified a hemizygous mutation in the GATA1 gene (V205M; 305371.0001). The mother, who had mild chronic thrombocytopenia and mild anemia, was heterozygous for the mutation. The findings indicated an important role for GATA1 in erythropoiesis, megakaryocyte development, and platelet formation. </p><p>In affected members of a family with X-linked macrothrombocytopenia without anemia, Mehaffey et al. (2001) identified a mutation in the GATA1 gene (G208S; 305371.0003). </p><p>In affected members of a family with X-linked macrothrombocytopenia without anemia, Freson et al. (2001) identified a mutation in the GATA1 gene (D218G; 305371.0002). </p><p>In a family with XLT with anemia, Freson et al. (2002) identified a mutation in the GATA1 gene (D218Y; 305371.0005). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Compared to XLT individuals with the D218G mutation who did not have anemia (Freson et al., 2001), Freson et al. (2002) found that those with the D218Y mutation who had anemia had more disturbed platelet and erythrocyte morphology and disturbed expression levels of the platelet GATA1-target gene products. The more severe D218Y allele (as opposed to the D218G allele) was not expressed in the platelets of an unaffected female carrier, and her leukocytes showed a skewed X-inactivation pattern. The authors concluded that the nature of the amino acid substitution at position 218 of GATA1 may be of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients, and possibly also in inducing skewed X inactivation. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Freson, K., Devriendt, K., Matthijs, G., Van Hoof, A., De Vos, R., Thys, C., Minner, K., Hoylaerts, M. F., Vermylen, J., Van Geet, C.
|
|
<strong>Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.</strong>
|
|
Blood 98: 85-92, 2001.
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[PubMed: 11418466]
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[Full Text: https://doi.org/10.1182/blood.v98.1.85]
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Freson, K., Matthijs, G., Thys, C., Marien, P., Hoylaerts, M. F., Vermylen, J., Van Geet, C.
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<strong>Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.</strong>
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Hum. Molec. Genet. 11: 147-152, 2002.
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[PubMed: 11809723]
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[Full Text: https://doi.org/10.1093/hmg/11.2.147]
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Mehaffey, M. G., Newton, A. L., Gandhi, M. J., Crossley, M., Drachman, J. G.
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<strong>X-linked thrombocytopenia caused by a novel mutation of GATA-1.</strong>
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Blood 98: 2681-2688, 2001.
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[PubMed: 11675338]
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[Full Text: https://doi.org/10.1182/blood.v98.9.2681]
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</p>
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<li>
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<p class="mim-text-font">
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Millikan, P. D., Balamohan, S. M., Raskind, W. H., Kacena, M. A.
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<strong>Inherited thrombocytopenia due to GATA-1 mutations.</strong>
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Semin. Thromb. Hemost. 37: 682-689, 2011.
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[PubMed: 22102271]
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[Full Text: https://doi.org/10.1055/s-0031-1291378]
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Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., Weiss, M. J.
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<strong>Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.</strong>
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Nature Genet. 24: 266-270, 2000.
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[PubMed: 10700180]
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[Full Text: https://doi.org/10.1038/73480]
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Cassandra L. Kniffin - updated : 6/28/2012<br>George E. Tiller - updated : 9/17/2002
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