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<title>
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Entry
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- #273800 - GLANZMANN THROMBASTHENIA 1; GT1
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- OMIM
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<span class="h4">#273800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/273800"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS273800,PS231200"> <strong>Phenotypic Series</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<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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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=849" 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><a href="http://www.informatics.jax.org/disease/273800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001000/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:2219" 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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<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> 32942005<br />
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<strong>ICD10CM:</strong> D69.1<br />
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<strong>ORPHA:</strong> 849<br />
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<strong>DO:</strong> 2219<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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273800
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</span>
|
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</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
GLANZMANN THROMBASTHENIA 1; GT1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
BLEEDING DISORDER, PLATELET-TYPE, 2; BDPLT2<br />
|
|
GLANZMANN THROMBASTHENIA; GT<br />
|
|
THROMBASTHENIA OF GLANZMANN AND NAEGELI<br />
|
|
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY<br />
|
|
GP IIb-IIIa COMPLEX DEFICIENCY<br />
|
|
PLATELET FIBRINOGEN RECEPTOR DEFICIENCY<br />
|
|
GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/639?start=-3&limit=10&highlight=639">
|
|
17q21.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glanzmann thrombasthenia 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273800"> 273800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ITGA2B
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607759"> 607759 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/273800" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS273800,PS231200" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/273800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/273800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyphema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75229002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75229002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H21.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H21.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/364.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">364.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020581</a>, <a href="https://bioportal.bioontology.org/search?q=C0020582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011886</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011886" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011886</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Epistaxis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249366005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249366005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R04.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014591</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000421</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gingival bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86276007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000225" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000225</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tonsil bleeding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426531</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gastrointestinal hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74474003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74474003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/578" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/578.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002239</a>]</span><br /> -
|
|
Hematochezia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405729008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405729008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/578.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">578.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321898</a>, <a href="https://bioportal.bioontology.org/search?q=C0018932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018932</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025085</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002573</a>]</span><br /> -
|
|
Melena <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2901004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2901004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K92.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K92.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025222</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002249</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Menorrhagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386692008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386692008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N92.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N92.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000132</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemarthroses (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81808003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005261" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005261</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
</div>
|
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|
|
</div>
|
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Hematoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35566002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35566002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/385494008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">385494008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018944</a>]</span><br /> -
|
|
Ecchymoses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77643000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77643000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302227002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302227002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013491</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031364" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031364</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031364" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031364</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 /> -
|
|
Purpura <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12393003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12393003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387778001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387778001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463943&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463943</a>, <a href="https://bioportal.bioontology.org/search?q=C0034150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034150</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000979</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000979" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000979</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hematoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35566002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35566002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/385494008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">385494008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intracranial hemorrhage (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1386000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1386000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/432.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">432.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151699</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002170" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002170</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002170" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002170</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Glanzmann thrombasthenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32942005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040015</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001872</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001975</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001975</a>]</span><br /> -
|
|
Normal platelet count <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165555003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165555003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427564</a>]</span><br /> -
|
|
Normal platelet size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970603</a>]</span><br /> -
|
|
Absent or decreased platelet aggregation with agonists (ADP, collage, or thrombin receptor activating peptide) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775206</a>]</span><br /> -
|
|
Decreased or absent platelet aggregation (<10%) with all physiologic agonists <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775207</a>]</span><br /> -
|
|
Normal agglutination response to ristocetin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775208</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Risk of obstetric hemorrhage during delivery and postpartum period <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5775205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5775205</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hematuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53298000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53298000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34436003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34436003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/599.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.7</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/599.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">599.70</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018965</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000790</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Glanzmann thrombasthenia 1 and Glanzmann thrombasthenia 2 (<a href="/entry/619267">619267</a>) are clinically indistinguishable and have 3 clinical subtypes<br /> -
|
|
Type I has absent glycoprotein IIb/IIIa expression (<5% normal)<br /> -
|
|
Type II has reduced glycoprotein IIb/IIIa expression (5-25%)<br /> -
|
|
Type III has normal levels of integrin, but the protein is nonfunctional<br /> -
|
|
Platelet alloimmunization may occur following platelet transfusion<br /> -
|
|
Estimated incidence of 1 in 1,000,000 (includes GT1 and GT2)<br /> -
|
|
Increased frequency in French Romani, South Indian Hindus, Iraqi Jews, and Jordanian nomadic tribes<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the integrin, alpha-2b gene (ITGA2B, <a href="/entry/607759#0002">607759.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glanzmann thrombasthenia
|
|
- <a href="/phenotypicSeries/PS273800">PS273800</a>
|
|
- 2 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/639?start=-3&limit=10&highlight=639"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273800"> Glanzmann thrombasthenia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273800"> 273800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607759"> ITGA2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607759"> 607759 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/674?start=-3&limit=10&highlight=674"> 17q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619267"> Glanzmann thrombasthenia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619267"> 619267 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> ITGB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> 173470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Bleeding disorder, platelet-type
|
|
- <a href="/phenotypicSeries/PS231200">PS231200</a>
|
|
- 28 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/264?start=-3&limit=10&highlight=264"> 1p36.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618462"> ?Bleeding disorder, platelet-type, 22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618462"> 618462 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600997"> EPHB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600997"> 600997 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/261?start=-3&limit=10&highlight=261"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139090"> Gray platelet syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139090"> 139090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614169"> NBEAL2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614169"> 614169 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/657?start=-3&limit=10&highlight=657"> 3q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> Bernard-Soulier syndrome, type C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> 231200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173515"> GP9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173515"> 173515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/790?start=-3&limit=10&highlight=790"> 3q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609821"> Bleeding disorder, platelet-type, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609821"> 609821 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600515"> P2RY12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600515"> 600515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/153?start=-3&limit=10&highlight=153"> 5q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614200"> Bleeding disorder, platelet-type, 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614200"> 614200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614200"> BDPLT9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614200"> 614200 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/374?start=-3&limit=10&highlight=374"> 7q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608404"> Platelet glycoprotein IV deficiency </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608404"> 608404 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173510"> CD36 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173510"> 173510 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/720?start=-3&limit=10&highlight=720"> 7q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614158"> Bleeding disorder, platelet-type, 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614158"> 614158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614158"> BDPLT14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614158"> 614158 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/226?start=-3&limit=10&highlight=226"> 9q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616176"> ?Bleeding disorder, platelet-type, 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616176"> 616176 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176893"> PRKACG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176893"> 176893 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/602?start=-3&limit=10&highlight=602"> 9q34.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187900"> Bleeding disorder, platelet-type, 17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187900"> 187900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604383"> GFI1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604383"> 604383 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/311?start=-3&limit=10&highlight=311"> 10q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601709"> Quebec platelet disorder </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601709"> 601709 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191840"> PLAU </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191840"> 191840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/557?start=-3&limit=10&highlight=557"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615888"> ?Bleeding disorder, platelet-type, 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615888"> 615888 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605577"> RASGRP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605577"> 605577 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1082?start=-3&limit=10&highlight=1082"> 11q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617443"> Bleeding disorder, platelet-type, 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617443"> 617443 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193067"> FLI1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193067"> 193067 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/304?start=-3&limit=10&highlight=304"> 12q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/262890"> Scott syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/262890"> 262890 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608663"> ANO6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608663"> 608663 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/336?start=-3&limit=10&highlight=336"> 14q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615193"> Bleeding disorder, platelet-type, 15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615193"> 615193 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102575"> ACTN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102575"> 102575 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/92?start=-3&limit=10&highlight=92"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/177820"> von Willebrand disease, platelet-type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/177820"> 177820 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606672"> GP1BA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606672"> 606672 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/92?start=-3&limit=10&highlight=92"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> Bernard-Soulier syndrome, type A1 (recessive) </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> 231200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606672"> GP1BA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606672"> 606672 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/423?start=-3&limit=10&highlight=423"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616913"> Bleeding disorder, platelet-type, 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616913"> 616913 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614958"> SLFN14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614958"> 614958 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/639?start=-3&limit=10&highlight=639"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/187800"> Bleeding disorder, platelet-type, 16, autosomal dominant </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</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/187800"> 187800 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607759"> ITGA2B </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607759"> 607759 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
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<span class="mim-font">
|
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|
<a href="/geneMap/17/639?start=-3&limit=10&highlight=639"> 17q21.31 </a>
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|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/273800"> Glanzmann thrombasthenia 1 </a>
|
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</span>
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</td>
|
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/273800"> 273800 </a>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/607759"> ITGA2B </a>
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</span>
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/607759"> 607759 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
<a href="/geneMap/17/674?start=-3&limit=10&highlight=674"> 17q21.32 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/619271"> Bleeding disorder, platelet-type, 24, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619271"> 619271 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> ITGB3 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> 173470 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/674?start=-3&limit=10&highlight=674"> 17q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619267"> Glanzmann thrombasthenia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619267"> 619267 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> ITGB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173470"> 173470 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/111?start=-3&limit=10&highlight=111"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614009"> {Bleeding disorder, platelet-type, 13, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614009"> 614009 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188070"> TBXA2R </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188070"> 188070 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/407?start=-3&limit=10&highlight=407"> 19p13.12-p13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620486"> Bleeding disorder, platelet-type, 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620486"> 620486 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600317"> TPM4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600317"> 600317 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1152?start=-3&limit=10&highlight=1152"> 19q13.42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614201"> Bleeding disorder, platelet-type, 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614201"> 614201 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605546"> GP6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605546"> 605546 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/47?start=-3&limit=10&highlight=47"> 22q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> Giant platelet disorder, isolated </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> 231200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138720"> GP1BB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138720"> 138720 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/47?start=-3&limit=10&highlight=47"> 22q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> Bernard-Soulier syndrome, type B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/231200"> 231200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138720"> GP1BB </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138720"> 138720 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/222?start=-3&limit=10&highlight=222"> 22q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/155100"> Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/155100"> 155100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160775"> MYH9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160775"> 160775 </a>
|
|
</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
Not Mapped
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605735"> Bleeding disorder, platelet-type, 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605735"> 605735 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605735"> BDPLT12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605735"> 605735 </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="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Glanzmann thrombasthenia-1 (GT1) is caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B; <a href="/entry/607759">607759</a>) on chromosome 17q21.31.</p><p>Heterozygous mutation in the ITGA2B gene causes Glanzmann thrombasthenia-like with macrothrombocytopenia (BDPLT16; <a href="/entry/187800">187800</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; <a href="/entry/173470">173470</a>) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (<a href="#50" class="mim-tip-reference" title="Rosenberg, N., Yatuv, R., Orion, Y., Zivelin, A., Dardik, R., Peretz, H., Seligsohn, U. <strong>Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta-3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.</strong> Blood 89: 3654-3662, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9160670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9160670</a>]" pmid="9160670">Rosenberg et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9160670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Glanzmann Thrombasthenia</em></strong></p><p>
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See Glanzmann thrombasthenia-2 (GT2; <a href="/entry/619267">619267</a>), caused by mutation the ITGB3 gene (<a href="/entry/173470">173470</a>) on chromosome 17q21.32.</p><p>See review by <a href="#6" class="mim-tip-reference" title="Botero, J. P., Lee, K., Branchford, B. R., Bray, P. F., Freson, K., Lambert, M. P., Luo, M., Mohan, S., Ross, J. E., Bergmeier, W., Di Paula, J. <strong>Glanzmann thrombasthenia: genetic basis and clinical correlates.</strong> Haematologica 105: 888-894, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32139434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32139434</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32139434[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/10.3324/haematol.2018.214239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32139434">Botero et al. (2020)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32139434" 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>Glanzmann thrombasthenia (GT) is manifest soon after birth with episodic mucocutaneous bleeding and unprovoked bruising. Epistaxis frequently occurs and, in women, copious menstrual hemorrhage. Intracranial bleeding may also occur. Bleeding time is prolonged, with normal platelet count, normal platelet morphology, and normal coagulation times. Platelets fail to aggregate, either spontaneously or in response to agonists, such as ADP, thrombin, or epinephrine, although there may be a transient response to ristocetin (<a href="#17" class="mim-tip-reference" title="Ferrer, M., Tao, J., Iruin, G., Sanchez-Ayuso, M., Gonzalez-Rodriguez, J., Parrilla, R., Gonzalez-Manchon, C. <strong>Truncation of glycoprotein (GP) IIIa (delta 616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.</strong> Blood 92: 4712-4720, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9845537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9845537</a>]" pmid="9845537">Ferrer et al., 1998</a>; <a href="#49" class="mim-tip-reference" title="Poncz, M., Rifat, S., Coller, B. S., Newman, P. J., Shattil, S. J., Parrella, T., Fortina, P., Bennett, J. S. <strong>Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.</strong> J. Clin. Invest. 93: 172-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282784</a>] [<a href="https://doi.org/10.1172/JCI116942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282784">Poncz et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8282784+9845537" 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>Glanzmann thrombasthenia has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels (5-20% controls), have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. The platelets of GT 'variants' have normal or near normal (60-100%) expression of dysfunctional receptors (<a href="#17" class="mim-tip-reference" title="Ferrer, M., Tao, J., Iruin, G., Sanchez-Ayuso, M., Gonzalez-Rodriguez, J., Parrilla, R., Gonzalez-Manchon, C. <strong>Truncation of glycoprotein (GP) IIIa (delta 616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.</strong> Blood 92: 4712-4720, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9845537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9845537</a>]" pmid="9845537">Ferrer et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9845537" 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>Early cases were reported by <a href="#31" class="mim-tip-reference" title="Lelong, J. C. <strong>La thrombopathie de Glanzmann-Naegeli.</strong> Paris: R. Foulon et Cie. (pub.) 1960."None>Lelong (1960)</a> and <a href="#33" class="mim-tip-reference" title="Marx, R., Jean, G. <strong>Studien zur Pathogenese der Thrombasthenie Glanzmann-Naegeli.</strong> Klin. Wschr. 40: 942-953, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13933227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13933227</a>] [<a href="https://doi.org/10.1007/BF01481417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13933227">Marx and Jean (1962)</a>. <a href="#19" class="mim-tip-reference" title="Friedman, L. L., Bowie, E. J. W., Thompson, J. H., Jr., Brown, A. L., Jr., Owen, C. A., Jr. <strong>Familial Glanzmann's thrombasthenia.</strong> Mayo Clin. Proc. 39: 908-918, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14250111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14250111</a>]" pmid="14250111">Friedman et al. (1964)</a> described the disease in a boy and girl who were double first cousins (the mother of one was a sister of the father of the other and vice versa). An apparently unique congenital platelet disorder was described by <a href="#8" class="mim-tip-reference" title="Bowie, E. J. W., Thompson, J. H., Jr., Owen, C. A., Jr. <strong>A new abnormality of platelet function.</strong> Thromb. Diath. Haemorrh. 11: 195-203, 1964."None>Bowie et al. (1964)</a>. Absent platelet aggregation and defective hemostatic plug formation in the disorder was emphasized by <a href="#11" class="mim-tip-reference" title="Caen, J. P., Castaldi, P. A., Leclerc, J. C., Inceman, S., Larrieu, M. J., Probst, M., Bernard, J. <strong>Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann's thrombasthenia (report of fifteen patients).</strong> Am. J. Med. 41: 4-26, 1966."None>Caen et al. (1966)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13933227+14250111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Cronberg, S., Nilsson, I. M., Zetterqvist, E. <strong>Investigation of a family with members with both severe and mild degree of thrombasthenia.</strong> Acta Paediat. Scand. 56: 189-197, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6049801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6049801</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1967.tb15363.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6049801">Cronberg et al. (1967)</a> described a kindred in which 3 persons in 2 sibships had a severe clotting defect, whereas others, including all 4 parents of the affected sibships, had a minor defect. The most impressive abnormality in vitro was complete absence of ability of the platelets to aggregate or adhere to glass. The same was observed by <a href="#57" class="mim-tip-reference" title="Zaizov, R., Cohen, I., Matoth, Y. <strong>Thrombasthenia: a study of two siblings.</strong> Acta Paediat. Scand. 57: 522-526, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5706368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5706368</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1968.tb06973.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5706368">Zaizov et al. (1968)</a> in brother and sister whose parents were first cousins once removed. <a href="#45" class="mim-tip-reference" title="Papayannis, A. G., Israels, M. C. G. <strong>Glanzmann's disease and trait. (Letter)</strong> Lancet 296: 44 only, 1970. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4193778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4193778</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)92507-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4193778">Papayannis and Israels (1970)</a> concluded that the heterozygote can be identified by the clot retraction test. Some heterozygotes are mild bleeders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5706368+4193778+6049801" 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="#13" class="mim-tip-reference" title="Corby, D. G., Zirbel, C. L., Lindley, A., Schulman, I. <strong>Thrombasthenia.</strong> Am. J. Dis. Child. 121: 140-144, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5542851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5542851</a>] [<a href="https://doi.org/10.1001/archpedi.1971.02100130094011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5542851">Corby et al. (1971)</a> reported a brother and sister who had bleeding diathesis, normal platelet counts, prolonged bleeding times, deficient platelet factor 3 and absent platelet aggregation in response to ADP, collagen and epinephrine. <a href="#22" class="mim-tip-reference" title="Hathaway, W. E. <strong>Bleeding disorders due to platelet dysfunction.</strong> Am. J. Dis. Child. 121: 127-134, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5100795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5100795</a>] [<a href="https://doi.org/10.1001/archpedi.1971.02100130081009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5100795">Hathaway (1971)</a> reviewed disorders of platelet function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5542851+5100795" 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="Awidi, A. S. <strong>Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia.</strong> Scand. J. Haemat. 30: 218-222, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6857142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6857142</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1983.tb01477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6857142">Awidi (1983)</a> described 12 Jordanian patients in 9 families. The parents were consanguineous in all instances. All patients were children with mucosal bleeding. <a href="#2" class="mim-tip-reference" title="Awidi, A. S. <strong>Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia.</strong> Scand. J. Haemat. 30: 218-222, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6857142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6857142</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1983.tb01477.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6857142">Awidi (1983)</a> concluded that Glanzmann disease is the second most frequent bleeding disorder in Jordan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6857142" 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="#49" class="mim-tip-reference" title="Poncz, M., Rifat, S., Coller, B. S., Newman, P. J., Shattil, S. J., Parrella, T., Fortina, P., Bennett, J. S. <strong>Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.</strong> J. Clin. Invest. 93: 172-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282784</a>] [<a href="https://doi.org/10.1172/JCI116942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282784">Poncz et al. (1994)</a> reported an infant who presented at 2 days of age with subdural bleeding and extensive ecchymoses. She had a normal platelet count, prolonged bleeding time, and absent platelet aggregation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282784" 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="#21" class="mim-tip-reference" title="Gross, R., Gerok, W., Lohr, G. W., Vogell, W., Waller, H. D., Theopold, W. <strong>Ueber die Natur der Thrombasthenie. Thrombopathie Glanzmann-Naegeli.</strong> Klin. Wschr. 38: 193-206, 1960."None>Gross et al. (1960)</a> found that the platelets of affected patients had greatly reduced glyceraldehydephosphate dehydrogenase (GAPDH) and pyruvate kinase (PK) activity. The platelets showed reduced adhesiveness; on blood smears there was notable absence of platelet aggregation, and by electron microscopy there were 'round' platelets.</p><p><a href="#39" class="mim-tip-reference" title="Moser, K., Lechner, K., Vinazzer, H. <strong>A hitherto not described enzyme defect in thrombasthenia: glutathione reductase deficiency.</strong> Thromb. Diath. Haemorrh. 19: 46-52, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5652240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5652240</a>]" pmid="5652240">Moser et al. (1968)</a> found severe deficiency of glutathione reductase in platelets in 2 sibs. <a href="#27" class="mim-tip-reference" title="Karpatkin, S., Weiss, H. J. <strong>Deficiency of glutathione peroxidase associated with high levels of reduced glutathione in Glanzmann's thrombasthenia.</strong> New Eng. J. Med. 287: 1062-1066, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4673006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4673006</a>] [<a href="https://doi.org/10.1056/NEJM197211232872103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4673006">Karpatkin and Weiss (1972)</a> found markedly decreased glutathione peroxidase activity of platelets in 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5652240+4673006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Booyse, F. M., Kisieleski, D., Seeler, R., Rafelson, M., Jr. <strong>Possible thrombosthenin defect in Glanzmann's thrombasthenia.</strong> Blood 39: 377-381, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4110434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4110434</a>]" pmid="4110434">Booyse et al. (1972)</a> found that microquantitation of thrombosthenin by radial immunodiffusion and a specific immunohistochemical antibody staining technique indicated absence of the surface-localized thrombosthenin in platelets from patients with Glanzmann thrombasthenia. In addition, ADP- and ATP-induced changes of the surface of normal platelets could not be demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4110434" 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="#15" class="mim-tip-reference" title="Dautigny, A., Bernier, I., Colombani, J., Jolles, P. <strong>Human platelets as a source of HL-A antigens: a study of various solubilization techniques.</strong> Biochimie 57: 1197-1201, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1222125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1222125</a>] [<a href="https://doi.org/10.1016/s0300-9084(76)80583-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1222125">Dautigny et al. (1975)</a> used an IgG antibody derived from a multitransfused patient with thrombasthenia to test platelets in vitro. Platelets of all normal subjects reacted with it in fixing complement. Platelets of the patient of origin and 8 others with thrombasthenia did not react. The authors took this as evidence that a specific molecule of the platelet is lacking or structurally modified in this disease. <a href="#47" class="mim-tip-reference" title="Phillips, D. R., Agin, R. P. <strong>Platelet membrane defects in Glanzmann's thrombasthenia: evidence for decreased amounts of two major glycoproteins.</strong> J. Clin. Invest. 60: 535-545, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/70433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">70433</a>] [<a href="https://doi.org/10.1172/JCI108805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="70433">Phillips and Agin (1977)</a> found deficiency of 2 platelet membrane glycoproteins in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1222125+70433" 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="#36" class="mim-tip-reference" title="McEver, R. P., Baenziger, N. L., Majerus, P. W. <strong>Isolation and quantitation of the platelet membrane glycoprotein deficient in thrombasthenia using a monoclonal hybridoma antibody.</strong> J. Clin. Invest. 66: 1311-1318, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6449521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6449521</a>] [<a href="https://doi.org/10.1172/JCI109983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6449521">McEver et al. (1980)</a> used the hybridoma technique to characterize further the platelet glycoprotein abnormality in Glanzmann thrombasthenia. Spleen cells from mice immunized with human platelets were fused to mouse myeloma cells with HGPRT deficiency. Hybridoma lines producing a variety of antiplatelet antibodies were isolated by HAT selection and cloned. Purified monoclonal IgG from 6 lines was prepared. One of these bound to a protein (called Tab) on normal platelets but not on thrombasthenic platelets. The protein was isolated by affinity chromatography on Tab-Sepharose. SDS polyacrylamide gel electrophoresis showed the protein to be a complex of glycoproteins IIb and IIIa. Platelets of heterozygotes had intermediate Tab-binding. The platelet alloantigen Pl(A1) (see <a href="/entry/173470">173470</a>) was not recognized by Tab, because platelets from 3 Pl(A1)-negative subjects bound Tab normally. Thus, a platelet membrane protein that may be required for platelet aggregation and clot retraction was demonstrated. The 2 bands shown to be deficient in thrombasthenia were glycoproteins GPIIb and GPIIIa. Following up on the work of <a href="#36" class="mim-tip-reference" title="McEver, R. P., Baenziger, N. L., Majerus, P. W. <strong>Isolation and quantitation of the platelet membrane glycoprotein deficient in thrombasthenia using a monoclonal hybridoma antibody.</strong> J. Clin. Invest. 66: 1311-1318, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6449521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6449521</a>] [<a href="https://doi.org/10.1172/JCI109983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6449521">McEver et al. (1980)</a>, <a href="#35" class="mim-tip-reference" title="McEver, R. P., Baenziger, J. U., Majerus, P. W. <strong>Isolation and structural characterization of the polypeptide subunits of membrane glycoprotein IIb-IIIa from human platelets.</strong> Blood 59: 80-85, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7053767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7053767</a>]" pmid="7053767">McEver et al. (1982)</a> separated the polypeptide subunits IIb and IIIa of the glycoprotein isolated by affinity chromatography using the specific monoclonal antibody, and they compared their structures. The peptide maps were found to be completely different, suggesting that they are products of 2 separate genes or cleaved from a single proprotein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7053767+6449521" 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="#38" class="mim-tip-reference" title="Montgomery, R. R., Kunicki, T. J., Taves, C., Pidard, D., Corcoran, M. <strong>Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood.</strong> J. Clin. Invest. 71: 385-389, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6822670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6822670</a>] [<a href="https://doi.org/10.1172/jci110780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6822670">Montgomery et al. (1983)</a> demonstrated that an assay using monoclonal antibodies raised in the mouse can recognize the deficiency of glycoprotein Ib in the Bernard-Soulier syndrome (BSS; <a href="/entry/231200">231200</a>) and of the glycoprotein IIb/IIIa in Glanzmann thrombasthenia. They studied 3 patients with BSS and 6 with GT. Of the GT patients, 3 had negligible binding to the antibody (type I GT) and 3 had greatly reduced binding (type II GT). The platelets in GT are aggregation-defective; those in BSS are adhesion-defective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6822670" 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="#32" class="mim-tip-reference" title="Levy, J. M., Mayer, G., Sacrez, R., Ruff, R., Francfort, J. J., Rodier, L. <strong>Thrombasthenie de Glanzmann-Naegeli: etude d'un groupe ethnique a forte endogamie.</strong> Ann. Pediat. 18: 129-137, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5102406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5102406</a>]" pmid="5102406">Levy et al. (1971)</a> and <a href="#55" class="mim-tip-reference" title="Tongio, M. M., Lutz, P., Hauptmann, G., Rodier, L., Levy, J.-M., Mayer, S., Cazenave, J.-P. <strong>Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex.</strong> Tissue Antigens 20: 22-27, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6214871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6214871</a>] [<a href="https://doi.org/10.1111/j.1399-0039.1982.tb00325.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6214871">Tongio et al. (1982)</a> studied GT in 2 large families belonging to the Manouche Gypsy tribe. In studies of these cases, <a href="#30" class="mim-tip-reference" title="Kunicki, T. J., Pidard, D., Cazenave, J.-P., Nurden, A. T., Caen, J. P. <strong>Inheritance of the human platelet alloantigen, Pl(A1), in type I Glanzmann's thrombasthenia.</strong> J. Clin. Invest. 67: 717-724, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7193688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7193688</a>] [<a href="https://doi.org/10.1172/JCI110088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7193688">Kunicki et al. (1981)</a> showed that the molecular expression of type I thrombasthenia, absence of GPIIb and IIa, was controlled by a different gene from that determining the platelet antigen Pl(A1). This suggested that the lack of expression of Pl(A1) antigen on thrombasthenic platelets is the result of absence of GPIIIa, the glycoprotein carrier of the Pl(A1) determinant. A deletion of the platelet antigen Pl(A1) on platelets from 5 patients with GT was demonstrated by <a href="#29" class="mim-tip-reference" title="Kunicki, T. J., Aster, R. H. <strong>Deletion of the platelet-specific alloantigen Pl(A1) from platelets in Glanzmann's thrombasthenia.</strong> J. Clin. Invest. 61: 1225-1231, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/566280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">566280</a>] [<a href="https://doi.org/10.1172/JCI109038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="566280">Kunicki and Aster (1978)</a> and confirmed by others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5102406+566280+6214871+7193688" 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="#44" class="mim-tip-reference" title="Nurden, A. T., Rosa, J.-P., Fournier, D., Legrand, C., Didry, D., Parquet, A., Pidard, D. <strong>A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane.</strong> J. Clin. Invest. 79: 962-969, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3818957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3818957</a>] [<a href="https://doi.org/10.1172/JCI112907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3818957">Nurden et al. (1987)</a> described a patient with Glanzmann thrombasthenia whose platelets contained unstable GPIIb/IIIa complexes unable to support fibrinogen binding. <a href="#20" class="mim-tip-reference" title="Giltay, J. C., Leeksma, O. C., Breederveld, C., van Mourik, J. A. <strong>Normal synthesis and expression of endothelial IIb/IIIa in Glanzmann's thrombasthenia.</strong> Blood 69: 809-812, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3545321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3545321</a>]" pmid="3545321">Giltay et al. (1987)</a> found that endothelial cells from patients with Glanzmann disease were normal in their ability to synthesize and express a GPIIb/IIIa complex. This suggested that the defect in platelets may be caused by a defect in a regulatory element affecting the transcription of these 2 genes in megakaryocytes, as proposed by <a href="#9" class="mim-tip-reference" title="Bray, P. F., Rosa, J.-P., Lingappa, V. R., Kan, Y. W., McEver, R. P., Shuman, M. A. <strong>Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa.</strong> Proc. Nat. Acad. Sci. 83: 1480-1484, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3006053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3006053</a>] [<a href="https://doi.org/10.1073/pnas.83.5.1480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3006053">Bray et al. (1986)</a>. Alternatively, some evidence suggested that platelet and endothelial GPIIb/IIIa are not identical. The electrophoretic mobility of the complexes and their subunits is different, and not all monoclonal antibodies directed against platelet GPIIb/IIIa crossreact with endothelial GPIIb/IIIa. The surface protein deficient in Glanzmann disease is related to the family that includes LFA1A (<a href="/entry/153370">153370</a>) and MAC1 (<a href="/entry/120980">120980</a>). <a href="#12" class="mim-tip-reference" title="Coller, B. S., Seligsohn, U., Little, P. A. <strong>Type I Glanzmann thrombasthenia patients from the Iraqi-Jewish and Arab populations in Israel can be differentiated by platelet glycoprotein IIIa immunoblot analysis.</strong> Blood 69: 1696-1703, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3580574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3580574</a>]" pmid="3580574">Coller et al. (1987)</a> found that immunoblot patterns of glycoprotein IIIa could distinguish the defect present in most Iraqi-Jewish cases from that in Arab cases in Israel. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3006053+3580574+3818957+3545321" 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>To explain why both GPIIb and GPIIIa are deficient in Glanzmann disease, <a href="#9" class="mim-tip-reference" title="Bray, P. F., Rosa, J.-P., Lingappa, V. R., Kan, Y. W., McEver, R. P., Shuman, M. A. <strong>Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa.</strong> Proc. Nat. Acad. Sci. 83: 1480-1484, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3006053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3006053</a>] [<a href="https://doi.org/10.1073/pnas.83.5.1480" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3006053">Bray et al. (1986)</a> suggested that there may be a defect in a common regulatory element, or that a molecular defect in either protein may result in instability or improper processing of the other. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3006053" 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 patient with features of Glanzmann thrombasthenia and leukocyte adhesion deficiency-1 (<a href="/entry/116920">116920</a>), <a href="#34" class="mim-tip-reference" title="McDowall, A., Inwald, D., Leitinger, B., Jones, A., Liesner, R., Klein, N., Hogg, N. <strong>A novel form of integrin dysfunction involving beta-1, beta-2, and beta-3 integrins.</strong> J. Clin. Invest. 111: 51-60, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12511588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12511588</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12511588[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/10.1172/JCI14076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12511588">McDowall et al. (2003)</a> identified a novel form of integrin dysfunction involving ITGB1 (<a href="/entry/135630">135630</a>), ITGB2, and ITGB3 (<a href="/entry/173470">173470</a>). ITGB2 and ITGB3 were constitutively clustered. Although all 3 integrins were expressed on the cell surface at normal levels and were capable of function following extracellular stimulation, they could not be activated via the 'inside-out' signaling pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12511588" 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="#53" class="mim-tip-reference" title="Seligsohn, U., Mibashan, R. S., Rodeck, C. H., Nicolaides, K. H., Millar, D. S., Coller, B. S. <strong>Prenatal diagnosis of Glanzmann's thrombasthenia. (Letter)</strong> Lancet 326: 1419 only, 1985. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2867408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2867408</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)92579-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2867408">Seligsohn et al. (1985)</a> demonstrated that in the form of Glanzmann thrombasthenia frequent in Iraqi Jews, prenatal diagnosis is possible by means of a monoclonal antibody against GPIIb/IIIa applied to fetal blood obtained by fetoscopic venipuncture. The method would not be applicable in the rare instances of variant thrombasthenia due to a functional rather than a quantitative defect of GPIIb/IIIa. They tested an earlier-born child in this family who was found to have had facial purpura soon after delivery by cesarean section, excessive bleeding with circumcision, and repeated episodes of gingival bleeding, epistaxis, and pharyngeal bleeding from 'injury caused by sweets.' The diagnosis of Glanzmann disease was based on lack of clot retraction, isolated (nonaggregated) platelets on blood smear, and failure of ADP-induced platelet aggregation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2867408" 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="#10" class="mim-tip-reference" title="Bray, P. F. <strong>Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization.</strong> Thromb. Haemost. 72: 492-502, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7878622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7878622</a>]" pmid="7878622">Bray (1994)</a> reviewed the inherited diseases of platelet glycoproteins and made recommendations of general strategy for rapid molecular characterization of those disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7878622" 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="#41" class="mim-tip-reference" title="Newman, P. J., Seligsohn, U., Lyman, S., Coller, B. S. <strong>The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.</strong> Proc. Nat. Acad. Sci. 88: 3160-3164, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2014236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2014236</a>] [<a href="https://doi.org/10.1073/pnas.88.8.3160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2014236">Newman et al. (1991)</a> demonstrated that the form of Glanzmann thrombasthenia frequent in Iraqi Jews is due to a truncated GPIIIa as a result of an 11-bp deletion within the GP3A gene (<a href="/entry/173470#0014">173470.0014</a>), whereas the form of the disease frequent in Arabs in Israel is due to a 13-bp deletion in the GP2B gene (<a href="/entry/607759#0002">607759.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2014236" 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 an Ashkenazi Jewish female infant with Glanzmann thrombasthenia, born of a consanguineous marriage, <a href="#49" class="mim-tip-reference" title="Poncz, M., Rifat, S., Coller, B. S., Newman, P. J., Shattil, S. J., Parrella, T., Fortina, P., Bennett, J. S. <strong>Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.</strong> J. Clin. Invest. 93: 172-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282784</a>] [<a href="https://doi.org/10.1172/JCI116942" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282784">Poncz et al. (1994)</a> identified a homozygous mutation in the ITGA2B gene (<a href="/entry/607759#0007">607759.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282784" 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="#46" class="mim-tip-reference" title="Peretz, H., Rosenberg, N., Landau, M., Usher, S., Nelson, E. J. R., Mor-Cohen, R., French, D. L., Mitchell, B. W., Nair, S. C., Chandy, M., Coller, B. S., Srivastava, A., Seligsohn, U. <strong>Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alpha-IIb-beta-3 integrin (ITGA2B, ITGB3).</strong> Hum. Mutat. 27: 359-369, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16463284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16463284</a>] [<a href="https://doi.org/10.1002/humu.20304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16463284">Peretz et al. (2006)</a> investigated the molecular basis of Glanzmann thrombasthenia in 40 families from southern India. Of 23 identified mutations, 13 in the ITGA2B gene and 10 in the ITGB3 gene, 20 were novel. A founder effect was observed for 2 mutations. Alternative splicing was predicted in silico for the normal variant and a missense variant of the ITGB3 gene, and for 10 of 11 frameshift or nonsense mutations in ITGA2B or ITGB3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16463284" 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>Among 24 patients with Glanzmann thrombasthenia and 2 asymptomatic carriers of the disorder, <a href="#25" class="mim-tip-reference" title="Jallu, V., Dusseaux, M., Panzer, S., Torchet, M.-F., Hezard, N., Goudemand, J., de Brevern, A. G., Kaplan, C. <strong>Alpha-IIb-beta-3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.</strong> Hum. Mutat. 31: 237-246, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20020534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20020534</a>] [<a href="https://doi.org/10.1002/humu.21179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20020534">Jallu et al. (2010)</a> identified 20 different mutations in the ITGA2B gene (see, e.g., <a href="/entry/607759#0015">607759.0015</a>-<a href="/entry/607759#0016">607759.0016</a>) in 18 individuals and 10 different mutations in the ITGB3 (see, e.g., <a href="/entry/173470#0016">173470.0016</a>-<a href="/entry/173470#0017">173470.0017</a>) gene in 8 individuals. There were 17 novel mutations described. Four mutations in the ITGB3 gene were examined for pathogenicity and all were found to decrease cell surface expression of the IIb/IIIa complex, consistent with the severe type I phenotype. One in particular, K253M (<a href="/entry/173470#0016">173470.0016</a>), defined a key role for the lys253 residue in the interaction of the alpha-IIb propeller and the beta-I domain of IIIa, and loss of lys253 would interrupt complex formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20020534" 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>Exclusion Studies</em></strong></p><p>
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In 2 kindreds from Israel with Glanzmann thrombasthenia, <a href="#52" class="mim-tip-reference" title="Russell, M. E., Seligsohn, U., Coller, B. S., Ginsberg, M. H., Skoglund, P., Quertermous, T. <strong>Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel.</strong> Blood 72: 1833-1836, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3179450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3179450</a>]" pmid="3179450">Russell et al. (1988)</a> could find no major insertions, deletions, or rearrangements in either the GP2B or the GP3A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3179450" 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 splice site mutation in the ITGA2B gene (<a href="/entry/607759#0008">607759.0008</a>) has been identified exclusively in patients with Glanzmann thrombasthenia from the French Gypsy Manouche community. By genotyping and haplotype analysis of 23 individuals, including 9 patients with Glanzmann thrombasthenia, from 16 families from the French Manouche community, <a href="#18" class="mim-tip-reference" title="Fiore, M., Pillois, X., Nurden, P., Nurden, A. T., Austerlitz, F. <strong>Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.</strong> Europ. J. Hum. Genet. 19: 981-987, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487445[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/10.1038/ejhg.2011.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487445">Fiore et al. (2011)</a> identified a 4-Mb ancestral common core haplotype, indicating a founder effect. The mutation was estimated to have occurred about 300 to 400 years ago. Gypsies are believed to be a population with Indian origins with an initial exodus into the Byzantine Empire during the 11th century. <a href="#18" class="mim-tip-reference" title="Fiore, M., Pillois, X., Nurden, P., Nurden, A. T., Austerlitz, F. <strong>Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families.</strong> Europ. J. Hum. Genet. 19: 981-987, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21487445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21487445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21487445[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/10.1038/ejhg.2011.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21487445">Fiore et al. (2011)</a> suggested that the Manouche families moved from Germany to the north of France between the 17th and 18th centuries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21487445" 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="#54" class="mim-tip-reference" title="Stevens, R. F., Meyer, S. <strong>Fanconi and Glanzmann: the men and their works.</strong> Brit. J. Haemat. 119: 901-904, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12472566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12472566</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03812.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12472566">Stevens and Meyer (2002)</a> reviewed the work of 2 Swiss pioneer hematologists, Eduard Glanzmann (1887-1959) and Guido Fanconi (1892-1979). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12472566" 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>The difficult nosology of the heterogeneous category of platelet disorders was discussed by <a href="#26" class="mim-tip-reference" title="Kanska, B., Niewiarowski, S., Ostrowski, L., Poplawski, A., Prokopowicz, J. <strong>Macrothrombocytic thrombopathia. Clinical, coagulation and hereditary aspects.</strong> Thromb. Diath. Haemorrh. 10: 88-100, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14081293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14081293</a>]" pmid="14081293">Kanska et al. (1963)</a> and by <a href="#1" class="mim-tip-reference" title="Alagille, D., Josso, F., Binet, J. L., Blin, M. L. <strong>La dystrophie thrombocytaire hemorragipare: discussion nosologique.</strong> Nouv. Rev. Franc. Hemat. 4: 755-790, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14233375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14233375</a>]" pmid="14233375">Alagille et al. (1964)</a>. A classification of hereditary thrombopathies into 3 major categories was given by <a href="#7" class="mim-tip-reference" title="Bowie, E. J. W., Owen, C. A., Jr. <strong>Thrombopathy.</strong> Semin. Hemat. 5: 73-82, 1968."None>Bowie and Owen (1968)</a>: (1) thrombopathy (deficient or ineffective platelet factor-3); (2) thrombasthenia (diminished clot retraction); and (3) compound platelet defects (those associated with deficiency of either factor VIII or factor IX). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14081293+14233375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Bellucci1985" class="mim-tip-reference" title="Bellucci, S., Devergie, A., Gluckman, E., Tobelem, G., Lethielleux, P., Benbunan, M., Schaison, G., Boiron, M. <strong>Complete correction of Glanzmann's thrombasthenia by allogeneic bone-marrow transplantation.</strong> Brit. J. Haemat. 59: 635-641, 1985.">Bellucci et al. (1985)</a>; <a href="#Beutler1972" class="mim-tip-reference" title="Beutler, E. <strong>Glanzmann's thrombasthenia and reduced glutathione.</strong> New Eng. J. Med. 287: 1094-1095, 1972.">Beutler (1972)</a>; <a href="#Degos1975" class="mim-tip-reference" title="Degos, L., Dautigny, A., Brouet, J. C., Colombani, M., Ardaillou, N., Caen, J. P., Colombani, J. <strong>A molecular defect in thrombasthenic platelets.</strong> J. Clin. Invest. 56: 236-240, 1975.">Degos et al. (1975)</a>; <a href="#Herrmann1983" class="mim-tip-reference" title="Herrmann, F. H., Meyer, M., Gogstad, G. O., Solum, N. O. <strong>Glycoprotein IIb-IIIa complex in platelets of patients and heterozygotes of Glanzmann's thrombasthenia.</strong> Thromb. Res. 32: 615-622, 1983.">Herrmann
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et al. (1983)</a>; <a href="#Herrmann1982" class="mim-tip-reference" title="Herrmann, F. H., Meyer, M., Ihle, E. <strong>Protein and glycoprotein abnormalities in an unusual subtype of Glanzmann's thrombasthenia.</strong> Haemostasis 12: 337-344, 1982.">Herrmann et al. (1982)</a>; <a href="#Khanduri1981" class="mim-tip-reference" title="Khanduri, U., Pulimood, R., Sudarsanam, A., Carman, R. H., Jadhav, M., Pereira, S. <strong>Glanzmann's thrombasthenia: a review and report of 42 cases from South India.</strong> Thromb. Haemost. 46: 717-721, 1981.">Khanduri et al. (1981)</a>; <a href="#Meyer1985" class="mim-tip-reference" title="Meyer, M., Herrmann, F. H. <strong>Diversity of glycoprotein deficiencies in Glanzmann's thrombasthenia.</strong> Thromb. Haemost. 54: 626-629, 1985.">Meyer
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and Herrmann (1985)</a>; <a href="#Nachman1966" class="mim-tip-reference" title="Nachman, R. L. <strong>Thrombasthenia: immunologic evidence of a platelet protein abnormality.</strong> J. Lab. Clin. Med. 67: 411-419, 1966.">Nachman (1966)</a>; <a href="#Nurden1974" class="mim-tip-reference" title="Nurden, A. T., Caen, J. P. <strong>An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia.</strong> Brit. J. Haemat. 28: 253-260, 1974.">Nurden and Caen (1974)</a>; <a href="#Nurden1985" class="mim-tip-reference" title="Nurden, A. T., Didry, D., Kieffer, N., McEver, R. P. <strong>Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia.</strong> Blood 65: 1021-1024, 1985.">Nurden
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et al. (1985)</a>; <a href="#Pittman1964" class="mim-tip-reference" title="Pittman, M. A., Jr., Graham, J. B. <strong>Glanzmann's thrombopathy: an autosomal recessive trait in one family.</strong> Am. J. Med. Sci. 247: 293-303, 1964.">Pittman and Graham (1964)</a>; <a href="#Ruggeri1982" class="mim-tip-reference" title="Ruggeri, Z. M., Bader, R., de Marco, L. <strong>Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets.</strong> Proc. Nat. Acad. Sci. 79: 6038-6041, 1982.">Ruggeri et al. (1982)</a>; <a href="#Waller1964" class="mim-tip-reference" title="Waller, H. D., Gross, R. <strong>Genetische Enzymdefecte als Ursache von Thrombocytopathien.</strong> Verh. Dtsch. Ges. Inn. Med. 70: 476-494, 1964.">Waller and Gross (1964)</a>
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Alagille, D., Josso, F., Binet, J. L., Blin, M. L.
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<strong>La dystrophie thrombocytaire hemorragipare: discussion nosologique.</strong>
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Nouv. Rev. Franc. Hemat. 4: 755-790, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14233375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14233375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14233375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Awidi, A. S.
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<strong>Increased incidence of Glanzmann's thrombasthenia in Jordan as compared with Scandinavia.</strong>
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Scand. J. Haemat. 30: 218-222, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6857142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6857142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6857142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1983.tb01477.x" target="_blank">Full Text</a>]
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Bellucci, S., Devergie, A., Gluckman, E., Tobelem, G., Lethielleux, P., Benbunan, M., Schaison, G., Boiron, M.
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<strong>Complete correction of Glanzmann's thrombasthenia by allogeneic bone-marrow transplantation.</strong>
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Brit. J. Haemat. 59: 635-641, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3885999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3885999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3885999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1985.tb07358.x" target="_blank">Full Text</a>]
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New Eng. J. Med. 287: 1094-1095, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4673007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4673007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4673007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archpedi.1971.02100130094011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI109038" target="_blank">Full Text</a>]
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<a id="Nurden1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nurden, A. T., Didry, D., Kieffer, N., McEver, R. P.
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<strong>Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia.</strong>
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Blood 65: 1021-1024, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3156640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3156640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3156640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="44" class="mim-anchor"></a>
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<a id="Nurden1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nurden, A. T., Rosa, J.-P., Fournier, D., Legrand, C., Didry, D., Parquet, A., Pidard, D.
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<strong>A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb-IIIa complexes in the platelet membrane.</strong>
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J. Clin. Invest. 79: 962-969, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3818957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3818957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3818957" 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/10.1172/JCI112907" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
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<a id="Papayannis1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Papayannis, A. G., Israels, M. C. G.
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<strong>Glanzmann's disease and trait. (Letter)</strong>
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Lancet 296: 44 only, 1970. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4193778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4193778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4193778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)92507-9" target="_blank">Full Text</a>]
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<a id="46" class="mim-anchor"></a>
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<a id="Peretz2006" class="mim-anchor"></a>
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<div class="">
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Peretz, H., Rosenberg, N., Landau, M., Usher, S., Nelson, E. J. R., Mor-Cohen, R., French, D. L., Mitchell, B. W., Nair, S. C., Chandy, M., Coller, B. S., Srivastava, A., Seligsohn, U.
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<strong>Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alpha-IIb-beta-3 integrin (ITGA2B, ITGB3).</strong>
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Hum. Mutat. 27: 359-369, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16463284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16463284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16463284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20304" target="_blank">Full Text</a>]
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<a id="47" class="mim-anchor"></a>
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<a id="Phillips1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Phillips, D. R., Agin, R. P.
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<strong>Platelet membrane defects in Glanzmann's thrombasthenia: evidence for decreased amounts of two major glycoproteins.</strong>
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J. Clin. Invest. 60: 535-545, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/70433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">70433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=70433" 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/10.1172/JCI108805" target="_blank">Full Text</a>]
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<a id="48" class="mim-anchor"></a>
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<a id="Pittman1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pittman, M. A., Jr., Graham, J. B.
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<strong>Glanzmann's thrombopathy: an autosomal recessive trait in one family.</strong>
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Am. J. Med. Sci. 247: 293-303, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14130322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14130322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14130322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Poncz1994" class="mim-anchor"></a>
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Poncz, M., Rifat, S., Coller, B. S., Newman, P. J., Shattil, S. J., Parrella, T., Fortina, P., Bennett, J. S.
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<strong>Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.</strong>
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J. Clin. Invest. 93: 172-179, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8282784" 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/10.1172/JCI116942" target="_blank">Full Text</a>]
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<a id="50" class="mim-anchor"></a>
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<a id="Rosenberg1997" class="mim-anchor"></a>
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Rosenberg, N., Yatuv, R., Orion, Y., Zivelin, A., Dardik, R., Peretz, H., Seligsohn, U.
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<strong>Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta-3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.</strong>
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Blood 89: 3654-3662, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9160670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9160670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9160670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="51" class="mim-anchor"></a>
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<a id="Ruggeri1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruggeri, Z. M., Bader, R., de Marco, L.
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<strong>Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets.</strong>
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Proc. Nat. Acad. Sci. 79: 6038-6041, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6310559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6310559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6310559" 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/10.1073/pnas.79.19.6038" target="_blank">Full Text</a>]
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<a id="52" class="mim-anchor"></a>
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<a id="Russell1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Russell, M. E., Seligsohn, U., Coller, B. S., Ginsberg, M. H., Skoglund, P., Quertermous, T.
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<strong>Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel.</strong>
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Blood 72: 1833-1836, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3179450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3179450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3179450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="53" class="mim-anchor"></a>
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<a id="Seligsohn1985" class="mim-anchor"></a>
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<div class="">
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Seligsohn, U., Mibashan, R. S., Rodeck, C. H., Nicolaides, K. H., Millar, D. S., Coller, B. S.
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<strong>Prenatal diagnosis of Glanzmann's thrombasthenia. (Letter)</strong>
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Lancet 326: 1419 only, 1985. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2867408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2867408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2867408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(85)92579-6" target="_blank">Full Text</a>]
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<a id="Stevens2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stevens, R. F., Meyer, S.
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<strong>Fanconi and Glanzmann: the men and their works.</strong>
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Brit. J. Haemat. 119: 901-904, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12472566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12472566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12472566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.2002.03812.x" target="_blank">Full Text</a>]
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<a id="Tongio1982" class="mim-anchor"></a>
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Tongio, M. M., Lutz, P., Hauptmann, G., Rodier, L., Levy, J.-M., Mayer, S., Cazenave, J.-P.
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<strong>Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex.</strong>
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Tissue Antigens 20: 22-27, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6214871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6214871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6214871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0039.1982.tb00325.x" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
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<a id="Waller1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waller, H. D., Gross, R.
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<strong>Genetische Enzymdefecte als Ursache von Thrombocytopathien.</strong>
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Verh. Dtsch. Ges. Inn. Med. 70: 476-494, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14294266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14294266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14294266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="57" class="mim-anchor"></a>
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<a id="Zaizov1968" class="mim-anchor"></a>
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<div class="">
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Zaizov, R., Cohen, I., Matoth, Y.
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<strong>Thrombasthenia: a study of two siblings.</strong>
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Acta Paediat. Scand. 57: 522-526, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5706368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5706368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5706368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1968.tb06973.x" 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 : 9/22/2011
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/8/2010<br>Victor A. McKusick - updated : 6/6/2006<br>Cassandra L. Kniffin - reorganized : 5/14/2003<br>Ada Hamosh - updated : 5/6/2003<br>Victor A. McKusick - updated : 2/5/2003<br>Paul J. Converse - updated : 2/28/2002<br>Victor A. McKusick - updated : 1/14/2000<br>Ada Hamosh - updated : 5/11/1999<br>Victor A. McKusick - updated : 2/19/1999<br>Jennifer P. Macke - updated : 8/27/1996<br>Stylianos E. Antonarakis - updated : 7/4/1996
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</span>
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 02/09/2022
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carol : 04/19/2021<br>carol : 04/13/2021<br>carol : 05/20/2019<br>carol : 09/23/2011<br>ckniffin : 9/22/2011<br>carol : 9/21/2011<br>carol : 9/12/2011<br>ckniffin : 9/8/2011<br>wwang : 4/12/2010<br>ckniffin : 4/8/2010<br>terry : 3/25/2009<br>alopez : 6/13/2006<br>terry : 6/6/2006<br>ckniffin : 6/28/2004<br>terry : 6/25/2004<br>carol : 5/14/2003<br>ckniffin : 5/13/2003<br>ckniffin : 5/13/2003<br>ckniffin : 5/13/2003<br>ckniffin : 5/13/2003<br>alopez : 5/8/2003<br>terry : 5/6/2003<br>tkritzer : 2/11/2003<br>tkritzer : 2/11/2003<br>terry : 2/5/2003<br>carol : 4/8/2002<br>alopez : 2/28/2002<br>mgross : 1/14/2000<br>alopez : 5/14/1999<br>terry : 5/11/1999<br>carol : 2/22/1999<br>terry : 2/19/1999<br>terry : 6/24/1997<br>mark : 6/12/1997<br>alopez : 6/5/1997<br>alopez : 6/5/1997<br>alopez : 6/5/1997<br>alopez : 5/8/1997<br>mark : 3/17/1997<br>jenny : 12/9/1996<br>terry : 11/25/1996<br>terry : 7/24/1996<br>carol : 7/22/1996<br>carol : 7/4/1996<br>terry : 7/2/1996<br>mark : 2/9/1996<br>terry : 1/30/1996<br>mark : 7/6/1995<br>terry : 1/5/1995<br>mimadm : 5/18/1994<br>warfield : 3/10/1994<br>carol : 3/5/1994<br>carol : 11/18/1993
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<span class="mim-font">
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<strong>#</strong> 273800
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<h3>
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GLANZMANN THROMBASTHENIA 1; GT1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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BLEEDING DISORDER, PLATELET-TYPE, 2; BDPLT2<br />
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GLANZMANN THROMBASTHENIA; GT<br />
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THROMBASTHENIA OF GLANZMANN AND NAEGELI<br />
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PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY<br />
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GP IIb-IIIa COMPLEX DEFICIENCY<br />
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PLATELET FIBRINOGEN RECEPTOR DEFICIENCY<br />
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GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY
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<strong>SNOMEDCT:</strong> 32942005;
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<strong>ICD10CM:</strong> D69.1;
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<strong>ORPHA:</strong> 849;
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<strong>DO:</strong> 2219;
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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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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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<span class="mim-font">
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17q21.31
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Glanzmann thrombasthenia 1
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273800
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Autosomal recessive
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<span class="mim-font">
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3
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ITGA2B
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607759
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Glanzmann thrombasthenia-1 (GT1) is caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B; 607759) on chromosome 17q21.31.</p><p>Heterozygous mutation in the ITGA2B gene causes Glanzmann thrombasthenia-like with macrothrombocytopenia (BDPLT16; 187800).</p>
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<strong>Description</strong>
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<p>Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). </p><p><strong><em>Genetic Heterogeneity of Glanzmann Thrombasthenia</em></strong></p><p>
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See Glanzmann thrombasthenia-2 (GT2; 619267), caused by mutation the ITGB3 gene (173470) on chromosome 17q21.32.</p><p>See review by Botero et al. (2020). </p>
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<strong>Clinical Features</strong>
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<p>Glanzmann thrombasthenia (GT) is manifest soon after birth with episodic mucocutaneous bleeding and unprovoked bruising. Epistaxis frequently occurs and, in women, copious menstrual hemorrhage. Intracranial bleeding may also occur. Bleeding time is prolonged, with normal platelet count, normal platelet morphology, and normal coagulation times. Platelets fail to aggregate, either spontaneously or in response to agonists, such as ADP, thrombin, or epinephrine, although there may be a transient response to ristocetin (Ferrer et al., 1998; Poncz et al., 1994). </p><p>Glanzmann thrombasthenia has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels (5-20% controls), have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. The platelets of GT 'variants' have normal or near normal (60-100%) expression of dysfunctional receptors (Ferrer et al., 1998). </p><p>Early cases were reported by Lelong (1960) and Marx and Jean (1962). Friedman et al. (1964) described the disease in a boy and girl who were double first cousins (the mother of one was a sister of the father of the other and vice versa). An apparently unique congenital platelet disorder was described by Bowie et al. (1964). Absent platelet aggregation and defective hemostatic plug formation in the disorder was emphasized by Caen et al. (1966). </p><p>Cronberg et al. (1967) described a kindred in which 3 persons in 2 sibships had a severe clotting defect, whereas others, including all 4 parents of the affected sibships, had a minor defect. The most impressive abnormality in vitro was complete absence of ability of the platelets to aggregate or adhere to glass. The same was observed by Zaizov et al. (1968) in brother and sister whose parents were first cousins once removed. Papayannis and Israels (1970) concluded that the heterozygote can be identified by the clot retraction test. Some heterozygotes are mild bleeders. </p><p>Corby et al. (1971) reported a brother and sister who had bleeding diathesis, normal platelet counts, prolonged bleeding times, deficient platelet factor 3 and absent platelet aggregation in response to ADP, collagen and epinephrine. Hathaway (1971) reviewed disorders of platelet function. </p><p>Awidi (1983) described 12 Jordanian patients in 9 families. The parents were consanguineous in all instances. All patients were children with mucosal bleeding. Awidi (1983) concluded that Glanzmann disease is the second most frequent bleeding disorder in Jordan. </p><p>Poncz et al. (1994) reported an infant who presented at 2 days of age with subdural bleeding and extensive ecchymoses. She had a normal platelet count, prolonged bleeding time, and absent platelet aggregation. </p>
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<strong>Biochemical Features</strong>
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<p>Gross et al. (1960) found that the platelets of affected patients had greatly reduced glyceraldehydephosphate dehydrogenase (GAPDH) and pyruvate kinase (PK) activity. The platelets showed reduced adhesiveness; on blood smears there was notable absence of platelet aggregation, and by electron microscopy there were 'round' platelets.</p><p>Moser et al. (1968) found severe deficiency of glutathione reductase in platelets in 2 sibs. Karpatkin and Weiss (1972) found markedly decreased glutathione peroxidase activity of platelets in 3 patients. </p><p>Booyse et al. (1972) found that microquantitation of thrombosthenin by radial immunodiffusion and a specific immunohistochemical antibody staining technique indicated absence of the surface-localized thrombosthenin in platelets from patients with Glanzmann thrombasthenia. In addition, ADP- and ATP-induced changes of the surface of normal platelets could not be demonstrated. </p>
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<strong>Pathogenesis</strong>
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<p>Dautigny et al. (1975) used an IgG antibody derived from a multitransfused patient with thrombasthenia to test platelets in vitro. Platelets of all normal subjects reacted with it in fixing complement. Platelets of the patient of origin and 8 others with thrombasthenia did not react. The authors took this as evidence that a specific molecule of the platelet is lacking or structurally modified in this disease. Phillips and Agin (1977) found deficiency of 2 platelet membrane glycoproteins in this disorder. </p><p>McEver et al. (1980) used the hybridoma technique to characterize further the platelet glycoprotein abnormality in Glanzmann thrombasthenia. Spleen cells from mice immunized with human platelets were fused to mouse myeloma cells with HGPRT deficiency. Hybridoma lines producing a variety of antiplatelet antibodies were isolated by HAT selection and cloned. Purified monoclonal IgG from 6 lines was prepared. One of these bound to a protein (called Tab) on normal platelets but not on thrombasthenic platelets. The protein was isolated by affinity chromatography on Tab-Sepharose. SDS polyacrylamide gel electrophoresis showed the protein to be a complex of glycoproteins IIb and IIIa. Platelets of heterozygotes had intermediate Tab-binding. The platelet alloantigen Pl(A1) (see 173470) was not recognized by Tab, because platelets from 3 Pl(A1)-negative subjects bound Tab normally. Thus, a platelet membrane protein that may be required for platelet aggregation and clot retraction was demonstrated. The 2 bands shown to be deficient in thrombasthenia were glycoproteins GPIIb and GPIIIa. Following up on the work of McEver et al. (1980), McEver et al. (1982) separated the polypeptide subunits IIb and IIIa of the glycoprotein isolated by affinity chromatography using the specific monoclonal antibody, and they compared their structures. The peptide maps were found to be completely different, suggesting that they are products of 2 separate genes or cleaved from a single proprotein. </p><p>Montgomery et al. (1983) demonstrated that an assay using monoclonal antibodies raised in the mouse can recognize the deficiency of glycoprotein Ib in the Bernard-Soulier syndrome (BSS; 231200) and of the glycoprotein IIb/IIIa in Glanzmann thrombasthenia. They studied 3 patients with BSS and 6 with GT. Of the GT patients, 3 had negligible binding to the antibody (type I GT) and 3 had greatly reduced binding (type II GT). The platelets in GT are aggregation-defective; those in BSS are adhesion-defective. </p><p>Levy et al. (1971) and Tongio et al. (1982) studied GT in 2 large families belonging to the Manouche Gypsy tribe. In studies of these cases, Kunicki et al. (1981) showed that the molecular expression of type I thrombasthenia, absence of GPIIb and IIa, was controlled by a different gene from that determining the platelet antigen Pl(A1). This suggested that the lack of expression of Pl(A1) antigen on thrombasthenic platelets is the result of absence of GPIIIa, the glycoprotein carrier of the Pl(A1) determinant. A deletion of the platelet antigen Pl(A1) on platelets from 5 patients with GT was demonstrated by Kunicki and Aster (1978) and confirmed by others. </p><p>Nurden et al. (1987) described a patient with Glanzmann thrombasthenia whose platelets contained unstable GPIIb/IIIa complexes unable to support fibrinogen binding. Giltay et al. (1987) found that endothelial cells from patients with Glanzmann disease were normal in their ability to synthesize and express a GPIIb/IIIa complex. This suggested that the defect in platelets may be caused by a defect in a regulatory element affecting the transcription of these 2 genes in megakaryocytes, as proposed by Bray et al. (1986). Alternatively, some evidence suggested that platelet and endothelial GPIIb/IIIa are not identical. The electrophoretic mobility of the complexes and their subunits is different, and not all monoclonal antibodies directed against platelet GPIIb/IIIa crossreact with endothelial GPIIb/IIIa. The surface protein deficient in Glanzmann disease is related to the family that includes LFA1A (153370) and MAC1 (120980). Coller et al. (1987) found that immunoblot patterns of glycoprotein IIIa could distinguish the defect present in most Iraqi-Jewish cases from that in Arab cases in Israel. </p><p>To explain why both GPIIb and GPIIIa are deficient in Glanzmann disease, Bray et al. (1986) suggested that there may be a defect in a common regulatory element, or that a molecular defect in either protein may result in instability or improper processing of the other. </p><p>In a patient with features of Glanzmann thrombasthenia and leukocyte adhesion deficiency-1 (116920), McDowall et al. (2003) identified a novel form of integrin dysfunction involving ITGB1 (135630), ITGB2, and ITGB3 (173470). ITGB2 and ITGB3 were constitutively clustered. Although all 3 integrins were expressed on the cell surface at normal levels and were capable of function following extracellular stimulation, they could not be activated via the 'inside-out' signaling pathways. </p>
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<h4>
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<strong>Diagnosis</strong>
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<p>Seligsohn et al. (1985) demonstrated that in the form of Glanzmann thrombasthenia frequent in Iraqi Jews, prenatal diagnosis is possible by means of a monoclonal antibody against GPIIb/IIIa applied to fetal blood obtained by fetoscopic venipuncture. The method would not be applicable in the rare instances of variant thrombasthenia due to a functional rather than a quantitative defect of GPIIb/IIIa. They tested an earlier-born child in this family who was found to have had facial purpura soon after delivery by cesarean section, excessive bleeding with circumcision, and repeated episodes of gingival bleeding, epistaxis, and pharyngeal bleeding from 'injury caused by sweets.' The diagnosis of Glanzmann disease was based on lack of clot retraction, isolated (nonaggregated) platelets on blood smear, and failure of ADP-induced platelet aggregation. </p><p>Bray (1994) reviewed the inherited diseases of platelet glycoproteins and made recommendations of general strategy for rapid molecular characterization of those disorders. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Newman et al. (1991) demonstrated that the form of Glanzmann thrombasthenia frequent in Iraqi Jews is due to a truncated GPIIIa as a result of an 11-bp deletion within the GP3A gene (173470.0014), whereas the form of the disease frequent in Arabs in Israel is due to a 13-bp deletion in the GP2B gene (607759.0002). </p><p>In an Ashkenazi Jewish female infant with Glanzmann thrombasthenia, born of a consanguineous marriage, Poncz et al. (1994) identified a homozygous mutation in the ITGA2B gene (607759.0007). </p><p>Peretz et al. (2006) investigated the molecular basis of Glanzmann thrombasthenia in 40 families from southern India. Of 23 identified mutations, 13 in the ITGA2B gene and 10 in the ITGB3 gene, 20 were novel. A founder effect was observed for 2 mutations. Alternative splicing was predicted in silico for the normal variant and a missense variant of the ITGB3 gene, and for 10 of 11 frameshift or nonsense mutations in ITGA2B or ITGB3. </p><p>Among 24 patients with Glanzmann thrombasthenia and 2 asymptomatic carriers of the disorder, Jallu et al. (2010) identified 20 different mutations in the ITGA2B gene (see, e.g., 607759.0015-607759.0016) in 18 individuals and 10 different mutations in the ITGB3 (see, e.g., 173470.0016-173470.0017) gene in 8 individuals. There were 17 novel mutations described. Four mutations in the ITGB3 gene were examined for pathogenicity and all were found to decrease cell surface expression of the IIb/IIIa complex, consistent with the severe type I phenotype. One in particular, K253M (173470.0016), defined a key role for the lys253 residue in the interaction of the alpha-IIb propeller and the beta-I domain of IIIa, and loss of lys253 would interrupt complex formation. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In 2 kindreds from Israel with Glanzmann thrombasthenia, Russell et al. (1988) could find no major insertions, deletions, or rearrangements in either the GP2B or the GP3A gene. </p>
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<strong>Population Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>A splice site mutation in the ITGA2B gene (607759.0008) has been identified exclusively in patients with Glanzmann thrombasthenia from the French Gypsy Manouche community. By genotyping and haplotype analysis of 23 individuals, including 9 patients with Glanzmann thrombasthenia, from 16 families from the French Manouche community, Fiore et al. (2011) identified a 4-Mb ancestral common core haplotype, indicating a founder effect. The mutation was estimated to have occurred about 300 to 400 years ago. Gypsies are believed to be a population with Indian origins with an initial exodus into the Byzantine Empire during the 11th century. Fiore et al. (2011) suggested that the Manouche families moved from Germany to the north of France between the 17th and 18th centuries. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Stevens and Meyer (2002) reviewed the work of 2 Swiss pioneer hematologists, Eduard Glanzmann (1887-1959) and Guido Fanconi (1892-1979). </p><p>The difficult nosology of the heterogeneous category of platelet disorders was discussed by Kanska et al. (1963) and by Alagille et al. (1964). A classification of hereditary thrombopathies into 3 major categories was given by Bowie and Owen (1968): (1) thrombopathy (deficient or ineffective platelet factor-3); (2) thrombasthenia (diminished clot retraction); and (3) compound platelet defects (those associated with deficiency of either factor VIII or factor IX). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Bellucci et al. (1985); Beutler (1972); Degos et al. (1975); Herrmann
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Waller and Gross (1964)
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<strong>Glanzmann thrombasthenia secondary to a gly273-to-asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.</strong>
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<strong>Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta-3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.</strong>
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<strong>Type I Glanzmann's thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex.</strong>
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Tissue Antigens 20: 22-27, 1982.
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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