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Entry
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- #314050 - THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
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- OMIM
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<p>
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<span class="h4">#314050</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/314050"><strong>Clinical Synopsis</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="#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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<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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</h4>
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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><a href="https://clinicaltrials.gov/search?cond=THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED" 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=19182&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/9391" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=314050[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=231393" 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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111767" 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/314050" 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:0111767" 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>
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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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718196002<br />
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<strong>ORPHA:</strong> 231393<br />
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<strong>DO:</strong> 0111767<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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314050
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<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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<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 with beta-thalassemia, 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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<a href="/entry/314050"> 314050 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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GATA1
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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/305371"> 305371 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/314050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/314050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/314050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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> ABDOMEN </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> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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</div>
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Photosensitivity bullous dermatitis (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551073&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551073</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hirsutism (1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
|
|
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|
|
|
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|
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|
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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 /> -
|
|
Prolonged bleeding time <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151529&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151529</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003010</a>]</span><br /> -
|
|
Increased alpha/beta globin ratio in reticulocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970750</a>]</span><br /> -
|
|
Reticulocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46049004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46049004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span><br /> -
|
|
Imbalanced hemoglobin chain synthesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551066</a>]</span><br /> -
|
|
Elevated HbA(2) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970751</a>]</span><br /> -
|
|
Elevated HbF <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970752</a>]</span><br /> -
|
|
Bone marrow biopsy shows increased numbers of normal to small megakaryocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551067</a>]</span><br /> -
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Enlarged platelets <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317068</a>]</span><br /> -
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Platelets have decreased alpha-granules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551068</a>]</span><br /> -
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Decreased platelet function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551069</a>]</span><br /> -
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Normal platelet aggregation studies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970753</a>]</span><br /> -
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Hemolytic anemia (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551070</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br /> -
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Dyserythropoiesis in bone marrow (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551071</a>]</span><br /> -
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Decreased number of small megakaryocytes (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551072</a>]</span><br /> -
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Mild reticulocytosis in carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970755</a>]</span><br /> -
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Low-normal platelet count in carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970756</a>]</span><br />
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- Decreased UROS activity (1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551065</a>]</span><br />
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- Three unrelated families have been reported (last curated June 2012)<br />
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- Caused by mutation in the GATA-binding protein 1 gene (GATA1, <a href="/entry/305371#0006">305371.0006</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked thrombocytopenia with beta-thalassemia (XLTT) is caused by mutation in the gene encoding GATA-binding protein-1 (GATA1; <a href="/entry/305371">305371</a>) on chromosome Xp11.</p>
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<p>XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by <a href="#2" class="mim-tip-reference" title="Ciovacco, W. A., Raskind, W. H., Kacena, M. A. <strong>Human phenotypes associated with GATA-1 mutations.</strong> Gene 427: 1-6, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930124</a>] [<a href="https://doi.org/10.1016/j.gene.2008.09.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18930124">Ciovacco et al., 2008</a> and <a href="#3" 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/?term=18930124+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="#6" class="mim-tip-reference" title="Thompson, A. R., Wood, W. G., Stamatoyannopoulos, G. <strong>X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.</strong> Blood 50: 303-316, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871527</a>]" pmid="871527">Thompson et al. (1977)</a> described an unusual family in which 4 and possibly 5 males in multiple generations had splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. Minor defects (reticulocytosis, globin synthesis imbalance) were found in some females. The female progenitor was white, but her ethnic extraction was not specified. No linkage to Xg was demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=871527" 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="Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Neufeld, E. J., Fleming, M. D. <strong>X-linked gray platelet syndrome due to a GATA1 arg216gln mutation.</strong> Blood 109: 3297-3299, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17209061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17209061</a>] [<a href="https://doi.org/10.1182/blood-2006-02-004101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17209061">Tubman et al. (2007)</a> reported a family in which 3 affected males had thrombocytopenia, increased mean platelet volume, mild microcytosis, and increased red cell distribution consistent with X-linked inheritance. Peripheral blood smear showed so-called 'gray platelets' with decreased alpha-granules (see <a href="/entry/139090">139090</a>). One male studied had a mild beta-thalassemia-like phenotype on hemoglobin electrophoresis. The proband was a 1-year-old girl with normal platelet count and no bleeding history who had 2 populations of platelets on peripheral blood smear: one normal and the other large, agranular, and pale. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17209061" 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>Clinical Variability</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P. <strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong> Blood 109: 2618-2621, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17148589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17148589</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17148589[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-2006-06-022848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17148589">Phillips et al. (2007)</a> reported a 3-year-old boy with XLTT and anemia who presented with a photosensitive bullous dermatosis and was found to have hirsutism, splenomegaly, and increased uroporphyrin with decreased UROS (<a href="/entry/606938">606938</a>) activity (21% of normal). Although these features were consistent with a clinical diagnosis of congenital erythropoietic porphyria (CEP; <a href="/entry/263700">263700</a>), sequencing of the UROS gene was negative. Laboratory studies showed microcytic anemia with increased reticulocytes, thrombocytopenia, increased fetal hemoglobin (59.5%), and beta-thalassemia. Bone marrow biopsy was hypercellular with dyserythropoiesis, nuclear bridging, and occasional multinucleated red cells. Megakaryocytes were decreased in number. He underwent a stem cell transplant, which was successful. The mother had had multiple first-trimester spontaneous abortions, but no signs of porphyria. The grandmother had chronic anemia and thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17148589" 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="#8" class="mim-tip-reference" title="Yu, C., Niakan, K. K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S. H., Raskind, W. H. <strong>X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.</strong> Blood 100: 2040-2045, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12200364[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-2002-02-0387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200364">Yu et al. (2002)</a> identified an arg216-to-gln mutation in the N finger of GATA1 (R216Q; <a href="/entry/305371#0006">305371.0006</a>) in the family with X-linked thrombocytopenia with beta-thalassemia reported by <a href="#6" class="mim-tip-reference" title="Thompson, A. R., Wood, W. G., Stamatoyannopoulos, G. <strong>X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.</strong> Blood 50: 303-316, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871527</a>]" pmid="871527">Thompson et al. (1977)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=871527+12200364" 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="Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Neufeld, E. J., Fleming, M. D. <strong>X-linked gray platelet syndrome due to a GATA1 arg216gln mutation.</strong> Blood 109: 3297-3299, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17209061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17209061</a>] [<a href="https://doi.org/10.1182/blood-2006-02-004101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17209061">Tubman et al. (2007)</a> identified an R216Q substitution in affected members of a family with a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of the so-called 'gray platelet syndrome.' In a letter, <a href="#1" class="mim-tip-reference" title="Balduini, C. L., De Candia, E., Savoia, A. <strong>Why the disorder induced by GATA1 arg216gln mutation should be called 'X-linked thrombocytopenia with thalassemia' rather than 'X-linked gray platelet syndrome'. (Letter)</strong> Blood 110: 2770-2771, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17881640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17881640</a>] [<a href="https://doi.org/10.1182/blood-2007-03-080978" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17881640">Balduini et al. (2007)</a> stated that the family reported by <a href="#7" class="mim-tip-reference" title="Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Neufeld, E. J., Fleming, M. D. <strong>X-linked gray platelet syndrome due to a GATA1 arg216gln mutation.</strong> Blood 109: 3297-3299, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17209061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17209061</a>] [<a href="https://doi.org/10.1182/blood-2006-02-004101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17209061">Tubman et al. (2007)</a> had a phenotype consistent with XLTT and that the classification as 'X-linked gray platelet syndrome' is a misnomer risking confusion in the literature. They noted that deficiency of platelet alpha-granules can be a feature of XLTT. In response, the original authors (<a href="#4" class="mim-tip-reference" title="Neufeld, E. J., Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Fleming, M. D. <strong>What's in a name? (Letter)</strong> Blood 110: 2771 only, 2007."None>Neufeld et al., 2007</a>) agreed that the disorder in the family may be classified as an example of a unique disorder, i.e., XLTT, but endorsed its classification as 'a unique kind of GPS, inherited in X-linked fashion, with platelets indistinguishable by experts from autosomal GPS (at the light microscope and ultrastructure level).' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17209061+17881640" 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 3-year-old boy with XLTT, anemia, and clinical features reminiscent of congenital erythropoietic porphyria, <a href="#5" class="mim-tip-reference" title="Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P. <strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong> Blood 109: 2618-2621, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17148589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17148589</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17148589[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-2006-06-022848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17148589">Phillips et al. (2007)</a> identified a hemizygous mutation in the GATA1 gene (R216W; <a href="/entry/305371#0010">305371.0010</a>). The GATA1 gene regulates expression of UROS in developing erythrocytes, which explained the decreased UROS activity and features of porphyria in this patient. The R216W mutation affects the same residue as that reported by <a href="#8" class="mim-tip-reference" title="Yu, C., Niakan, K. K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S. H., Raskind, W. H. <strong>X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.</strong> Blood 100: 2040-2045, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12200364[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-2002-02-0387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200364">Yu et al. (2002)</a> (R216Q; <a href="/entry/305371#0006">305371.0006</a>) in an XLTT family with a less severe phenotype. <a href="#5" class="mim-tip-reference" title="Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P. <strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong> Blood 109: 2618-2621, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17148589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17148589</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17148589[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-2006-06-022848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17148589">Phillips et al. (2007)</a> postulated that the larger, more hydrophobic tryptophan in their family would affect GATA1 binding to the UROS promoter more significantly than the smaller glutamine described by <a href="#8" class="mim-tip-reference" title="Yu, C., Niakan, K. K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S. H., Raskind, W. H. <strong>X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.</strong> Blood 100: 2040-2045, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12200364[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-2002-02-0387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200364">Yu et al. (2002)</a>. The striking fetal hemoglobin in the patient reported by <a href="#5" class="mim-tip-reference" title="Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P. <strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong> Blood 109: 2618-2621, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17148589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17148589</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17148589[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-2006-06-022848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17148589">Phillips et al. (2007)</a> also suggested a role for GATA1 in globin chain switching. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12200364+17148589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Balduini2007" class="mim-anchor"></a>
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Balduini, C. L., De Candia, E., Savoia, A.
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<strong>Why the disorder induced by GATA1 arg216gln mutation should be called 'X-linked thrombocytopenia with thalassemia' rather than 'X-linked gray platelet syndrome'. (Letter)</strong>
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Blood 110: 2770-2771, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17881640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17881640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17881640" 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-2007-03-080978" target="_blank">Full Text</a>]
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<a id="Ciovacco2008" class="mim-anchor"></a>
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Ciovacco, W. A., Raskind, W. H., Kacena, M. A.
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<strong>Human phenotypes associated with GATA-1 mutations.</strong>
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Gene 427: 1-6, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18930124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.gene.2008.09.018" target="_blank">Full Text</a>]
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<a id="Millikan2011" class="mim-anchor"></a>
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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="Neufeld2007" class="mim-anchor"></a>
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Neufeld, E. J., Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Fleming, M. D.
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<strong>What's in a name? (Letter)</strong>
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Blood 110: 2771 only, 2007.
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Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P.
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<strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong>
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Blood 109: 2618-2621, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17148589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17148589</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17148589[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=17148589" 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-2006-06-022848" target="_blank">Full Text</a>]
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Thompson, A. R., Wood, W. G., Stamatoyannopoulos, G.
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<strong>X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.</strong>
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Blood 50: 303-316, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871527</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=871527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Neufeld, E. J., Fleming, M. D.
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<strong>X-linked gray platelet syndrome due to a GATA1 arg216gln mutation.</strong>
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Blood 109: 3297-3299, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17209061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17209061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17209061" 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-2006-02-004101" target="_blank">Full Text</a>]
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Yu, C., Niakan, K. K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S. H., Raskind, W. H.
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<strong>X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.</strong>
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Blood 100: 2040-2045, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200364</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12200364[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=12200364" 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-2002-02-0387" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 6/28/2012
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Cassandra L. Kniffin - updated : 12/30/2009<br>Patricia A. Hartz - updated : 12/16/2002
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Victor A. McKusick : 6/4/1986
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ckniffin : 6/28/2012<br>carol : 1/4/2010<br>ckniffin : 12/30/2009<br>carol : 5/26/2005<br>mgross : 12/17/2002<br>terry : 12/16/2002<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>root : 1/25/1988
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THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
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THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
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<strong>SNOMEDCT:</strong> 718196002;
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<strong>ORPHA:</strong> 231393;
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<strong>DO:</strong> 0111767;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xp11.23
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<span class="mim-font">
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Thrombocytopenia with beta-thalassemia, X-linked
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314050
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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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GATA1
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305371
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked thrombocytopenia with beta-thalassemia (XLTT) is caused by mutation in the gene encoding GATA-binding protein-1 (GATA1; 305371) on chromosome Xp11.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by Ciovacco et al., 2008 and Millikan et al., 2011). </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Thompson et al. (1977) described an unusual family in which 4 and possibly 5 males in multiple generations had splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. Minor defects (reticulocytosis, globin synthesis imbalance) were found in some females. The female progenitor was white, but her ethnic extraction was not specified. No linkage to Xg was demonstrated. </p><p>Tubman et al. (2007) reported a family in which 3 affected males had thrombocytopenia, increased mean platelet volume, mild microcytosis, and increased red cell distribution consistent with X-linked inheritance. Peripheral blood smear showed so-called 'gray platelets' with decreased alpha-granules (see 139090). One male studied had a mild beta-thalassemia-like phenotype on hemoglobin electrophoresis. The proband was a 1-year-old girl with normal platelet count and no bleeding history who had 2 populations of platelets on peripheral blood smear: one normal and the other large, agranular, and pale. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Phillips et al. (2007) reported a 3-year-old boy with XLTT and anemia who presented with a photosensitive bullous dermatosis and was found to have hirsutism, splenomegaly, and increased uroporphyrin with decreased UROS (606938) activity (21% of normal). Although these features were consistent with a clinical diagnosis of congenital erythropoietic porphyria (CEP; 263700), sequencing of the UROS gene was negative. Laboratory studies showed microcytic anemia with increased reticulocytes, thrombocytopenia, increased fetal hemoglobin (59.5%), and beta-thalassemia. Bone marrow biopsy was hypercellular with dyserythropoiesis, nuclear bridging, and occasional multinucleated red cells. Megakaryocytes were decreased in number. He underwent a stem cell transplant, which was successful. The mother had had multiple first-trimester spontaneous abortions, but no signs of porphyria. The grandmother had chronic anemia and thrombocytopenia. </p>
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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>Yu et al. (2002) identified an arg216-to-gln mutation in the N finger of GATA1 (R216Q; 305371.0006) in the family with X-linked thrombocytopenia with beta-thalassemia reported by Thompson et al. (1977). </p><p>Tubman et al. (2007) identified an R216Q substitution in affected members of a family with a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of the so-called 'gray platelet syndrome.' In a letter, Balduini et al. (2007) stated that the family reported by Tubman et al. (2007) had a phenotype consistent with XLTT and that the classification as 'X-linked gray platelet syndrome' is a misnomer risking confusion in the literature. They noted that deficiency of platelet alpha-granules can be a feature of XLTT. In response, the original authors (Neufeld et al., 2007) agreed that the disorder in the family may be classified as an example of a unique disorder, i.e., XLTT, but endorsed its classification as 'a unique kind of GPS, inherited in X-linked fashion, with platelets indistinguishable by experts from autosomal GPS (at the light microscope and ultrastructure level).' </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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<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>In a 3-year-old boy with XLTT, anemia, and clinical features reminiscent of congenital erythropoietic porphyria, Phillips et al. (2007) identified a hemizygous mutation in the GATA1 gene (R216W; 305371.0010). The GATA1 gene regulates expression of UROS in developing erythrocytes, which explained the decreased UROS activity and features of porphyria in this patient. The R216W mutation affects the same residue as that reported by Yu et al. (2002) (R216Q; 305371.0006) in an XLTT family with a less severe phenotype. Phillips et al. (2007) postulated that the larger, more hydrophobic tryptophan in their family would affect GATA1 binding to the UROS promoter more significantly than the smaller glutamine described by Yu et al. (2002). The striking fetal hemoglobin in the patient reported by Phillips et al. (2007) also suggested a role for GATA1 in globin chain switching. </p>
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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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<ol>
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<p class="mim-text-font">
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Balduini, C. L., De Candia, E., Savoia, A.
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<strong>Why the disorder induced by GATA1 arg216gln mutation should be called 'X-linked thrombocytopenia with thalassemia' rather than 'X-linked gray platelet syndrome'. (Letter)</strong>
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Blood 110: 2770-2771, 2007.
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[PubMed: 17881640]
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[Full Text: https://doi.org/10.1182/blood-2007-03-080978]
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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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Ciovacco, W. A., Raskind, W. H., Kacena, M. A.
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<strong>Human phenotypes associated with GATA-1 mutations.</strong>
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Gene 427: 1-6, 2008.
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[PubMed: 18930124]
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[Full Text: https://doi.org/10.1016/j.gene.2008.09.018]
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</li>
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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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<li>
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<p class="mim-text-font">
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Neufeld, E. J., Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Fleming, M. D.
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<strong>What's in a name? (Letter)</strong>
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Blood 110: 2771 only, 2007.
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<li>
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<p class="mim-text-font">
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Phillips, J. D., Steensma, D. P., Pulsipher, M. A., Spangrude, G. J., Kushner, J. P.
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<strong>Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.</strong>
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Blood 109: 2618-2621, 2007.
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[PubMed: 17148589]
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[Full Text: https://doi.org/10.1182/blood-2006-06-022848]
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</li>
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<li>
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<p class="mim-text-font">
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Thompson, A. R., Wood, W. G., Stamatoyannopoulos, G.
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<strong>X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.</strong>
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Blood 50: 303-316, 1977.
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[PubMed: 871527]
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<li>
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<p class="mim-text-font">
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Tubman, V. N., Levine, J. E., Campagna, D. R., Monahan-Earley, R., Dvorak, A. M., Neufeld, E. J., Fleming, M. D.
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<strong>X-linked gray platelet syndrome due to a GATA1 arg216gln mutation.</strong>
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Blood 109: 3297-3299, 2007.
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[PubMed: 17209061]
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[Full Text: https://doi.org/10.1182/blood-2006-02-004101]
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<li>
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<p class="mim-text-font">
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Yu, C., Niakan, K. K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S. H., Raskind, W. H.
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<strong>X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.</strong>
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Blood 100: 2040-2045, 2002.
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[PubMed: 12200364]
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[Full Text: https://doi.org/10.1182/blood-2002-02-0387]
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Contributors:
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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<br>Cassandra L. Kniffin - updated : 12/30/2009<br>Patricia A. Hartz - updated : 12/16/2002
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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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Victor A. McKusick : 6/4/1986
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Edit History:
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<span class="mim-text-font">
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carol : 07/02/2012<br>ckniffin : 6/28/2012<br>carol : 1/4/2010<br>ckniffin : 12/30/2009<br>carol : 5/26/2005<br>mgross : 12/17/2002<br>terry : 12/16/2002<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>root : 1/25/1988
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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