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<title>
Entry
- #155100 - MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS
- OMIM
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<span class="h4">#155100</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/155100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS231200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</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://clinicaltrials.gov/search?cond=MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060651" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/155100" 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>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=001001,001608" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0060651" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 712922002<br />
<strong>ORPHA:</strong> 182050<br />
<strong>DO:</strong> 0060651<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
155100
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS
</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, 6; BDPLT6<br />
MAY-HEGGLIN ANOMALY; MHA<br />
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS<br />
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS<br />
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA<br />
SEBASTIAN SYNDROME; SBS<br />
SEBASTIAN PLATELET SYNDROME<br />
MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS<br />
EPSTEIN SYNDROME; EPSTNS<br />
MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS<br />
MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS<br />
FECHTNER SYNDROME; FTNS<br />
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS<br />
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY; APSM, FORMERLY
</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/22/222?start=-3&limit=10&highlight=222">
22q12.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155100"> 155100 </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">
MYH9
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160775"> 160775 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/155100" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/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>
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</div>
&nbsp;
<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/155100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/155100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cataracts, pre-senile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677907</a>]</span><br /> -
Congenital cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</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">
- Gum 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><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Proteinuric nephropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677904&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677904</a>]</span><br /> -
Nephrotic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52254009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52254009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">581</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000100</a>]</span><br /> -
End-stage renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90688005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90688005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46177005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46177005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/433146000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">433146000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N18.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N18.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/585.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">585.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022661</a>, <a href="https://bioportal.bioontology.org/search?q=C2316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003774</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Easy bruising <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425075004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425075004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424131007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424131007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000978</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Giant platelets <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44687006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44687006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333864</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001902</a>]</span><br /> -
Leukocyte inclusion bodies (Dohle-like bodies) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677905&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677905</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040235" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040235</a>]</span><br /> -
Abnormal bleeding, mild (in most cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677906</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248250000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248250000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>]</span><br /> -
Presence of myosin-9 aggregates in neutrophils via immunofluorescence assay <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678619</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">
- Postpartum hemorrhage (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47821001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47821001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O72</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">666</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032797</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011891</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
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">
- Macrothrombocytopenia and leukocyte inclusion bodies present at birth<br /> -
35% sporadic cases vs. 65% familial cases<br /> -
Severe abnormal bleeding are rare<br /> -
Historically, the following eponyms were used to describe the MYH9 macrothrombocytopenias -<br /> -
May-Hegglin anomaly - thrombocytopenia, large platelets, and leukocyte inclusions (clustered ribosomes and parallel filaments) Sebastian syndrome - thrombocytopenia, large platelets, and leukocyte inclusions (random ribosomes and dispersed filaments) Fechtner syndrome - thrombocytopenia, large platelets, and leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis Epstein syndrome - thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, and nephritis Alport syndrome with macrothrombocytopenia: thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis<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 myosin, heavy polypeptide-9, nonmuscle gene (MYH9, <a href="/entry/160775#0001">160775.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;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>
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/3/656?start=-3&limit=10&highlight=656"> 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/3/789?start=-3&limit=10&highlight=789"> 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">
<a href="/entry/187800"> Bleeding disorder, platelet-type, 16, 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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/187800"> 187800 </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/17/639?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/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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619271"> 619271 </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>
<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>
<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>
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<a href="/entry/231200"> Giant platelet disorder, isolated </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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 class="mim-font">
<a href="/entry/231200"> 231200 </a>
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<a href="/entry/138720"> GP1BB </a>
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<span class="mim-font">
<a href="/entry/138720"> 138720 </a>
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<span class="mim-font">
<a href="/geneMap/22/47?start=-3&limit=10&highlight=47"> 22q11.21 </a>
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<a href="/entry/231200"> Bernard-Soulier syndrome, type B </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<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 class="mim-font">
<a href="/entry/231200"> 231200 </a>
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<span class="mim-font">
<a href="/entry/138720"> GP1BB </a>
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<span class="mim-font">
<a href="/entry/138720"> 138720 </a>
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<span class="mim-font">
<a href="/geneMap/22/222?start=-3&limit=10&highlight=222"> 22q12.3 </a>
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<a href="/entry/155100"> Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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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<a href="/entry/155100"> 155100 </a>
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<a href="/entry/160775"> MYH9 </a>
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<span class="mim-font">
<a href="/entry/160775"> 160775 </a>
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<span class="mim-font">
Not Mapped
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<span class="mim-font">
<a href="/entry/605735"> Bleeding disorder, platelet-type, 12 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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<span class="mim-font">
<a href="/entry/605735"> 605735 </a>
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<span class="mim-font">
<a href="/entry/605735"> BDPLT12 </a>
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<span class="mim-font">
<a href="/entry/605735"> 605735 </a>
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<p>A number sign (#) is used with this entry because macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) is caused by heterozygous mutation in the gene encoding nonmuscle myosin heavy chain-9 (MYH9; <a href="/entry/160775">160775</a>) on chromosome 22q12.</p>
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<p>Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (<a href="/entry/301050">301050</a>)-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (<a href="#34" class="mim-tip-reference" title="Peterson, L. C., Rao, K. V., Crosson, J. T., White, J. G. &lt;strong&gt;Fechtner syndrome: a variant of Alport&#x27;s syndrome with leukocyte inclusions and macrothrombocytopenia.&lt;/strong&gt; Blood 65: 397-406, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2981587/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2981587&lt;/a&gt;]" pmid="2981587">Peterson et al., 1985</a>). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. <a href="#38" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. &lt;strong&gt;MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.&lt;/strong&gt; Medicine 82: 203-215, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12792306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12792306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.md.0000076006.64510.5c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12792306">Seri et al. (2003)</a> suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, <a href="#1" class="mim-tip-reference" title="Balduini, C. L., Pecci, A., Aavoia, A. &lt;strong&gt;Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.&lt;/strong&gt; Brit. J. Haemat. 154: 161-174, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21542825/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21542825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.2011.08716.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21542825">Balduini et al. (2011)</a> noted that all patients present leukocyte inclusion bodies, although of variable size. <a href="#38" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. &lt;strong&gt;MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.&lt;/strong&gt; Medicine 82: 203-215, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12792306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12792306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.md.0000076006.64510.5c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12792306">Seri et al. (2003)</a> proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17; <a href="/entry/603622">603622</a>) is also caused by mutation in the MYH9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2981587+12792306+21542825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#27" class="mim-tip-reference" title="May, R. &lt;strong&gt;Leukozyteneinschlusse.&lt;/strong&gt; Dtsch. Arch. Klin. Med. 96: 1-6, 1909."None>May (1909)</a> described inclusion bodies in granulocytes from the peripheral blood of an asymptomatic 24-year-old woman. <a href="#16" class="mim-tip-reference" title="Hegglin, R. &lt;strong&gt;Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten.&lt;/strong&gt; Helv. Med. Acta 12: 439-440, 1945.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21009925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21009925&lt;/a&gt;]" pmid="21009925">Hegglin (1945)</a> observed the triad of thrombocytopenia, giant platelets, and inclusion bodies in the leukocytes in 2 generations of a family. The leukocyte inclusions consisted of cytoplasmic RNA-containing inclusions, so-called Dohle bodies, which can also be seen transiently during acute infections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21009925" 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="#31" class="mim-tip-reference" title="Oski, F. A., Naiman, J. L., Allen, D. M., Diamond, L. K. &lt;strong&gt;Leukocytic inclusions--Dohle bodies--associated with platelet abnormality (the May-Hegglin anomaly): report of a family and review of the literature.&lt;/strong&gt; Blood 20: 657-667, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13940543/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13940543&lt;/a&gt;]" pmid="13940543">Oski et al. (1962)</a> observed the same anomaly in a mother and her 2 children. Of 24 reported cases, 9 had thrombocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13940543" 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="#18" class="mim-tip-reference" title="Jenis, E. H., Takeuchi, A., Dillon, D. E., Ruymann, F. B., Rivkin, S. &lt;strong&gt;The May-Hegglin anomaly: ultrastructure of the granulocyte inclusion.&lt;/strong&gt; Am. J. Clin. Path. 55: 187-196, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5100207/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5100207&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/ajcp/55.2.187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5100207">Jenis et al. (1971)</a> suggested a hypothetical model for the development of the May-Hegglin inclusions based on ultrastructural studies of marrow precursors containing the inclusions. They suggested that the filaments represent completely unfolded, i.e., depolymerized, ribosomes. Similar basophilic inclusions occurred in the Fechtner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5100207" 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="#6" class="mim-tip-reference" title="Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R. &lt;strong&gt;Hereditary macrothrombocytopathia, nephritis and deafness.&lt;/strong&gt; Am. J. Med. 52: 299-310, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5011389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5011389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(72)90017-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5011389">Epstein et al. (1972)</a> described 2 unrelated families, each with 2 members with macrothrombocytopathia, nephritis, and deafness. In 1 family, a third member, a young child, had the platelet disorder and mild hearing loss. Except for the greater severity in females, the renal disease was indistinguishable from that of X-linked Alport syndrome (<a href="/entry/301050">301050</a>). Likewise, the high frequency sensorineural hearing loss was similar to that in Alport syndrome. Thrombocytopenia was present with giant platelets showing abnormal ultrastructure and defective adherence to glass, and the bleeding time was prolonged. Aggregation of platelets in response to collagen and epinephrine and release of phospholipids were all impaired, and the release of nucleotide after exposure to collagen was abnormally low. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5011389" 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="Parsa, K. P., Lee, D. B. N., Zamboni, L., Glassock, R. J. &lt;strong&gt;Hereditary nephritis, deafness and abnormal thrombopoiesis: study of a new kindred.&lt;/strong&gt; Am. J. Med. 60: 665-672, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1020755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1020755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(76)90501-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1020755">Parsa et al. (1976)</a> reported another kindred with the triad of hereditary nephritis, deafness, and thrombocytopenia with giant platelets. Electron microscopic studies of megakaryocytes led the authors to suggest that the giant platelets may result from a degenerative process in megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than from the normal blebbing process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1020755" 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="#34" class="mim-tip-reference" title="Peterson, L. C., Rao, K. V., Crosson, J. T., White, J. G. &lt;strong&gt;Fechtner syndrome: a variant of Alport&#x27;s syndrome with leukocyte inclusions and macrothrombocytopenia.&lt;/strong&gt; Blood 65: 397-406, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2981587/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2981587&lt;/a&gt;]" pmid="2981587">Peterson et al. (1985)</a> reported a family in which 8 members of 4 generations showed nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions in various combinations. The authors referred to the disorder as the 'Fechtner syndrome,' presumably from the surname of the family. The family differed from others reported, such as families with Epstein syndrome, in that their hematologic abnormalities included not only macrothrombocytopenia but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Light microscopic appearance of the inclusions resembled that of toxic Dohle bodies and inclusions of May-Hegglin anomaly, but their ultrastructural appearance was unique. Deafness was high-tone sensorineural. Renal disease ranged from microscopic hematuria to end-stage renal failure necessitating dialysis and kidney transplantation. All affected adults had cataracts. <a href="#8" class="mim-tip-reference" title="Gershoni-Baruch, R., Baruch, Y., Viener, A., Lichtig, C. &lt;strong&gt;Fechtner syndrome: clinical and genetic aspects.&lt;/strong&gt; Am. J. Med. Genet. 31: 357-367, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3232700/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3232700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310213&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3232700">Gershoni-Baruch et al. (1988)</a> reported a second family with Fechtner syndrome; 16 members were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2981587+3232700" 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 6 members of 4 sibships in 3 generations of a kindred, <a href="#10" class="mim-tip-reference" title="Greaves, M., Pickering, C., Martin, J., Cartwright, I., Preston, F. E. &lt;strong&gt;A new familial &#x27;giant platelet syndrome&#x27; with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect.&lt;/strong&gt; Brit. J. Haemat. 65: 429-435, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3580299/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3580299&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1987.tb04145.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3580299">Greaves et al. (1987)</a> described thrombocytopenia with giant platelets. The proband was a 38-year-old white European male with a lifelong history of easy bruising. At the age of 18 months, he had suffered gastrointestinal hemorrhage, requiring blood transfusion. He had had prolonged hemorrhage after extraction of teeth, and vasectomy was complicated by hematomas. One patient underwent splenectomy for thrombocytopenia during childhood with no benefit. <a href="#10" class="mim-tip-reference" title="Greaves, M., Pickering, C., Martin, J., Cartwright, I., Preston, F. E. &lt;strong&gt;A new familial &#x27;giant platelet syndrome&#x27; with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect.&lt;/strong&gt; Brit. J. Haemat. 65: 429-435, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3580299/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3580299&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1987.tb04145.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3580299">Greaves et al. (1987)</a> described qualitative and quantitative platelet defects, which they suggested might be secondary to a disturbance of megakaryocyte cytoplasmic fragmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3580299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Heynen, M. J., Blockmans, D., Verwilghen, R. L., Vermylen, J. &lt;strong&gt;Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.&lt;/strong&gt; Brit. J. Haemat. 70: 441-448, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2851314/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2851314&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1988.tb02514.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2851314">Heynen et al. (1988)</a> described the Fechtner syndrome in a female patient who had developed multiple ecchymoses from the time she started walking at the age of 1 year, due to severe thrombocytopenia. Hearing problems developing at the age of 8 years progressed to almost complete deafness. The blood smear showed giant platelets the size of granulocytes. The patient had moderate proteinuria, but there were no abnormalities in the urinary sediment or in renal function. <a href="#17" class="mim-tip-reference" title="Heynen, M. J., Blockmans, D., Verwilghen, R. L., Vermylen, J. &lt;strong&gt;Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.&lt;/strong&gt; Brit. J. Haemat. 70: 441-448, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2851314/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2851314&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1988.tb02514.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2851314">Heynen et al. (1988)</a> postulated an abnormality in the cytoskeleton of megakaryocytes such that formation of the demarcation membrane system and the expulsion of platelets do not occur normally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2851314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Fujita, Y., Fujii, T., Nishio, A., Tuboi, K., Tsuji, K., Nakamura, M. &lt;strong&gt;Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.&lt;/strong&gt; Am. J. Hemat. 35: 219-221, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2171328/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2171328&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830350317&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2171328">Fujita et al. (1990)</a> described the May-Hegglin anomaly in a 39-year-old male and his son and daughter. All 3 also had spastic paraplegia, which began in the offspring at about age 12 and in the father at about age 20. Renal function was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2171328" 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="Greinacher, A., Nieuwenhuis, H. K., White, J. C. &lt;strong&gt;Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.&lt;/strong&gt; Blut 61: 282-288, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2176899/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2176899&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01732878&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2176899">Greinacher et al. (1990)</a> described the Sebastian platelet syndrome, a variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differed from those found in patients with May-Hegglin anomaly, the Chediak-Higashi syndrome (<a href="/entry/214500">214500</a>), or individuals with septicemia, and toxic Dohle bodies in polymorphonuclear leukocytes. The inclusions in polymorphonuclear leukocytes were similar to those found in patients with Fechtner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2176899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Greinacher, A., Mueller-Eckhardt, C. &lt;strong&gt;Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes.&lt;/strong&gt; Blut 60: 53-60, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2154271/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2154271&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01720508&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2154271">Greinacher and Mueller-Eckhardt (1990)</a> referred to the Sebastian platelet syndrome as an autosomal dominant disorder characterized by the same hematologic changes as those in the Fechtner syndrome, but without the manifestations of Alport syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2154271" 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 end-stage renal failure being prepared for renal transplant and in his healthy brother, <a href="#30" class="mim-tip-reference" title="Nel, N., van Rensburg, B. W. J., du Plessis, L., Potgieter, C. D., Stevens, K. &lt;strong&gt;Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure.&lt;/strong&gt; Am. J. Hemat. 40: 216-221, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1319112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1319112&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830400311&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1319112">Nel et al. (1992)</a> found the May-Hegglin anomaly. They concluded that there was no relation to the renal failure. Almost all neutrophils contained at least one inclusion body. These bodies were larger than toxic Dohle bodies found in septicemia, stained better, and were not accompanied by toxic granulation in the cytoplasm. Most of the inclusions were spindle shaped and occurred in any location in the cell cytoplasm as compared with the smaller, more irregular or rounded Dohle bodies, which tended to have a peripheral location in the cell. On electron microscopy, the bodies were shown to have parallel filaments oriented in the long axis of the inclusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1319112" 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="#11" class="mim-tip-reference" title="Greinacher, A., Bux, J., Kiefel, V., White, J. G., Mueller-Eckhardt, C. &lt;strong&gt;May-Hegglin anomaly: a rare cause of thrombocytopenia.&lt;/strong&gt; Europ. J. Pediat. 151: 668-671, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1396928/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1396928&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01957570&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1396928">Greinacher et al. (1992)</a> described 2 families with May-Hegglin anomaly, one with 4 and the other with 3 affected persons. Platelet counts were markedly reduced and were correctly determined only in the counting chamber. Bleeding time and platelet aggregation were normal, but platelet nucleotide concentrations (ATP and ADP) were elevated. Giant platelets and spindle-shaped inclusion bodies were found in the granulocytes, which functioned normally. Both families were ascertained through a child who was found to have thrombocytopenia during acute infection. Misdiagnosis in such cases can lead to mismanagement, including the use of dangerous therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1396928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G. &lt;strong&gt;Macrothrombocytopenia and progressive deafness: a new genetic syndrome.&lt;/strong&gt; Am. J. Otol. 13: 507-511, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1449176/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1449176&lt;/a&gt;]" pmid="1449176">Brodie et al. (1992)</a> reported a kindred with hereditary macrothrombocytopenia and progressive sensorineural hearing loss. None of the family members had any evidence of renal dysfunction. The disorder was inherited by and through females in 4 generations. Hearing impairment began before the third decade and progressed to severe to profound bilateral hearing loss by the fourth decade. The platelet disorder manifested in early childhood and persisted lifelong, although it tended to remain asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1449176" 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="Rocca, B., Laghi, F., Zini, G., Maggiano, N., Landolfi, R. &lt;strong&gt;Fechtner syndrome: report of a third family and literature review.&lt;/strong&gt; Brit. J. Haemat. 85: 423-426, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8280620/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8280620&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1993.tb03193.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8280620">Rocca et al. (1993)</a> reported a 4-generation family in which 10 of 14 individuals had macrothrombocytopenia with leukocyte inclusions. Some, but not all, affected members had Alport-like symptoms, such as deafness, nephritis, and cataracts. For example, members aged less than 50 years had clinically silent ocular abnormalities, mainly lens opacities. These observations were consistent with 'reduced expression of Alport manifestations,' thus showing similarity to Sebastian syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8280620" 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="#20" class="mim-tip-reference" title="Kelley, M. J., Jawien, W., Lin, A., Hoffmeister, K., Pugh, E. W., Doheny, K. F., Korczak, J. F. &lt;strong&gt;Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.&lt;/strong&gt; Hum. Genet. 106: 557-564, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10914687/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10914687&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390000294&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10914687">Kelley et al. (2000)</a> noted that about 25 to 50% of affected individuals with May-Hegglin anomaly have mild to moderate episodic bleeding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914687" 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="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. &lt;strong&gt;MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.&lt;/strong&gt; Medicine 82: 203-215, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12792306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12792306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.md.0000076006.64510.5c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12792306">Seri et al. (2003)</a> found sensorineural hearing loss for high tones in 9 (82%) of 11 patients initially diagnosed as having May-Hegglin anomaly or Sebastian syndrome. Three patients with May-Hegglin anomaly or Sebastian syndrome were found to have cataracts. In addition, microscopic hematuria or proteinuria was found in 4 patients with May-Hegglin anomaly and 2 with Sebastian syndrome. These findings emphasized the phenotypic overlap among disorders caused by mutation in the MYH9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" 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>Using immunocytochemical analysis, <a href="#38" class="mim-tip-reference" title="Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others. &lt;strong&gt;MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.&lt;/strong&gt; Medicine 82: 203-215, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12792306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12792306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.md.0000076006.64510.5c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12792306">Seri et al. (2003)</a> detected an irregular distribution of myosin in neutrophil cytoplasm of all 22 patients with mutations in the MYH9 gene, including 5 patients with a diagnosis of Epstein syndrome. Large myosin aggregates appeared as Dohle-like bodies, whereas the smaller ones were not readily recognizable on Giemsa-stained peripheral blood smears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T., Saito, H. &lt;strong&gt;Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.&lt;/strong&gt; Europ. J. Haemat. 74: 1-5, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15613099/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15613099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0609.2004.00328.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15613099">Kunishima et al. (2005)</a> reported a 45-year-old Japanese man with macrothrombocytopenia and severe bilateral sensorineural deafness, but no evidence of renal dysfunction. Leukocyte morphology on conventional Giemsa staining was ambiguous, but immunofluorescence staining showed abnormal subcellular localization of MYH9. The MYH9-positive structures showed a thread-like appearance, not punctuated or granular as often described in other MYH9-related disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15613099" 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="#41" class="mim-tip-reference" title="Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B. &lt;strong&gt;Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 140A: 2251-2253, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16969870/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16969870&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31454&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16969870">Utsch et al. (2006)</a> reported a newborn girl diagnosed with Epstein syndrome who had a heterozygous mutation in the MYH9 gene (<a href="/entry/160775#0012">160775.0012</a>). Although she did not show deafness or nephritis, she had macrothrombocytopenia and impaired platelet aggregation response to ADP and epinephrine. Bone marrow aspirate showed enhanced megakaryocytopoiesis with predominance of immature and dysplastic megakaryocytes. Erythropoiesis and granulocytopoiesis were normal. In addition, she had classic exstrophy of the bladder (<a href="/entry/600057">600057</a>). Prenatal ultrasound studies showed protrusion of the abdominal wall and a single umbilical artery. After birth, she was noted to have diastasis of the symphysis, epispadic open urethral groove, bifid clitoris and labia minora, an open laying bladder plate, and duplication of the vagina. The authors noted the young age of the patient and suggested that she may develop deafness and/or nephritis in the future. <a href="#41" class="mim-tip-reference" title="Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B. &lt;strong&gt;Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? (Letter)&lt;/strong&gt; Am. J. Med. Genet. 140A: 2251-2253, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16969870/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16969870&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31454&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16969870">Utsch et al. (2006)</a> suggested that although MYH9 mutations had not previously been associated with urogenital malformations, the mutation may have played a role in the bladder exstrophy in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16969870" 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 id="diagnosis" class="mim-anchor"></a>
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<p><a href="#37" class="mim-tip-reference" title="Savoia, A., De Rocco, D., Panza, E., Bozzi, V., Scandellari, R., Loffredo, G., Mumford, A., Heller, P. G., Noris, P., De Groot, M. R., Giani, M., Freddi, P., Scognamiglio, F., Riondino, S., Pujol-Moix, N., Fabris, F., Seri, M., Balduini, C. L., Pecci, A. &lt;strong&gt;Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.&lt;/strong&gt; Thromb. Haemost. 103: 826-832, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20174760/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20174760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1160/TH09-08-0593&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20174760">Savoia et al. (2010)</a> investigated 118 consecutive unrelated patients with a clinical presentation of macrothrombocytopenia with or without progressive sensorineural hearing loss, presenile cataract, and renal damage. All patients prospectively underwent immunofluorescence assay for myosin-9 aggregate dectection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of whom (98%) also had an MYH9 mutation. Neither aggregates nor an MYH9 mutation was identified in the remaining 36 patients. The authors concluded that neutrophil inclusions of myosin-9 are a pathognomonic sign of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20174760" 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="#35" class="mim-tip-reference" title="Rabbolini, D. J., Chun, Y., Latimer, M., Kunishima, S., Fixter, K., Valecha, B., Tan, P., Chew, L. P., Kile, B. T., Burt, R., Radhakrishnan, K., Bird, R., Ockelford, P., Gabrielli, S., Chen, Q., Stevenson, W. S., Ward, C. M., Morel-Koop, M.-C. &lt;strong&gt;Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.&lt;/strong&gt; Platelets 29: 793-800, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29090586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29090586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/09537104.2017.1356920&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29090586">Rabbolini et al. (2018)</a> noted the frequent misdiagnosis of this disorder as immune thrombocytopenia with subsequent mismanagement. Features resulting in misdiagnosis include a lack of family history due to the occurrence of de novo mutations in as many as 20 to 35% of cases; bleeding symptoms that are often mild and not always reported in childhood; failure of automated counters to reliably estimate platelet number and size (MPV) due to the presence of giant platelets; and pathognomonic neutrophil inclusions that are not always easily visible on Romanowsky-Giemsa-stained blood films. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29090586" 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 id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>Macrothrombocytopenia and granular inclusion bodies with or without nephritis or sensorineural hearing loss is inherited in an autosomal dominant manner (<a href="#28" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. &lt;strong&gt;Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.&lt;/strong&gt; Nature Genet. 26: 103-105, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10973259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10973259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/79063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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 id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>In a Japanese family with May-Hegglin anomaly, <a href="#22" class="mim-tip-reference" title="Kunishima, S., Kojima, T., Tanaka, T., Kamiya, T., Ozawa, K., Nakamura, Y., Saito, H. &lt;strong&gt;Mapping of a gene for May-Hegglin anomaly to chromosome 22q.&lt;/strong&gt; Hum. Genet. 105: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10598801/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10598801&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390051119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10598801">Kunishima et al. (1999)</a> performed a genomewide linkage study using highly polymorphic short tandem repeat markers. Linkage was found with chromosome 22q12.3-q13.2, with a maximum 2-point lod score of 4.52 at a recombination fraction of 0.00 for markers D22S1142 and D22S277. Haplotype analysis mapped a critical region for the disease locus to a 13.6-cM region, between D22S280 and D22S272. The relative proximity of the GP1BB gene (<a href="/entry/138720">138720</a>) on 22q11.2, as well as its involvement in autosomal dominant isolated giant platelet disease (see <a href="/entry/231200">231200</a>) (<a href="#23" class="mim-tip-reference" title="Kunishima, S., Lopez, J. A., Kobayashi, S., Imai, N., Kamiya, T., Saito, H., Naoe, T. &lt;strong&gt;Missense mutations of the glycoprotein (GP) Ib-beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.&lt;/strong&gt; Blood 89: 2404-2412, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9116284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9116284&lt;/a&gt;]" pmid="9116284">Kunishima et al., 1997</a>), suggested a possible involvement of GP1BB in MHA. However, sequence analysis in 2 patients showed no abnormality in the GP1BB gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10598801+9116284" 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="#26" class="mim-tip-reference" title="Martignetti, J. A., Heath, K. E., Harris, J., Bizzaro, N., Savoia, A., Balduini, C. L., Desnick, R. J. &lt;strong&gt;The gene for May-Hegglin anomaly localizes to a less than 1-Mb region on chromosome 22q12.3-13.1.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1449-1454, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739770/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10739770&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739770[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302873&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10739770">Martignetti et al. (2000)</a> confirmed the assignment of the MHA locus to 22q12.3-q13.1, and determined that the physical size of the MHA region is 0.7 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739770" 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 genomewide linkage screen in 3 families with MHA, <a href="#20" class="mim-tip-reference" title="Kelley, M. J., Jawien, W., Lin, A., Hoffmeister, K., Pugh, E. W., Doheny, K. F., Korczak, J. F. &lt;strong&gt;Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.&lt;/strong&gt; Hum. Genet. 106: 557-564, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10914687/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10914687&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390000294&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10914687">Kelley et al. (2000)</a> found a maximum lod score of 3.91 at a recombination fraction of 0.076 for marker D22S683. Within the largest family, the maximum lod score was 5.36 at theta = 0.00 at marker D22S445. Fine mapping of recombination events using 8 adjacent markers indicated that the minimal disease region in this largest family alone is in a region of approximately 26 cM from D22S683 to the telomere. The maximum lod score for the 3 families combined was 5.84 at theta = 0.00 for marker IL2RB (<a href="/entry/146710">146710</a>), which maps to 22q11.2-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914687" 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 extended Israeli family with Fechtner syndrome plus impaired liver functions and hypercholesterolemia in some individuals, <a href="#39" class="mim-tip-reference" title="Toren, A., Amariglio, N., Rozenfeld-Granot, G., Simon, A. J., Brok-Simoni, F., Pras, E., Rechavi, G. &lt;strong&gt;Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1711-1717, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577925">Toren et al. (1999)</a> mapped the disease-causing gene to the long arm of chromosome 22. Six markers yielded a lod score of more than 3.00. A maximum 2-point lod score of 7.02 was obtained with the marker D22S283 at a recombination fraction of 0.0. Recombination analysis placed the disease-causing gene in a 5.5-Mb interval between markers D22S284 and D22S1167. <a href="#39" class="mim-tip-reference" title="Toren, A., Amariglio, N., Rozenfeld-Granot, G., Simon, A. J., Brok-Simoni, F., Pras, E., Rechavi, G. &lt;strong&gt;Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1711-1717, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577925">Toren et al. (1999)</a> stated that no collagen genes or genes comprising the basement membrane had been mapped to this region, 22q12.1-q13.2. <a href="#40" class="mim-tip-reference" title="Toren, A., Rozenfeld-Granot, G., Rocca, B., Epstein, C. J., Amariglio, N., Laghi, F., Landolfi, R., Brok-Simoni, F., Carlsson, L. E., Rechavi, G., Greinacher, A. &lt;strong&gt;Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.&lt;/strong&gt; Blood 96: 3447-3451, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11071640/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11071640&lt;/a&gt;]" pmid="11071640">Toren et al. (2000)</a> mapped Epstein syndrome to the same region of chromosome 22q, suggesting that it is allelic to Fechtner syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10577925+11071640" 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 linkage studies of the original family described by <a href="#6" class="mim-tip-reference" title="Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R. &lt;strong&gt;Hereditary macrothrombocytopathia, nephritis and deafness.&lt;/strong&gt; Am. J. Med. 52: 299-310, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5011389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5011389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(72)90017-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5011389">Epstein et al. (1972)</a>, <a href="#40" class="mim-tip-reference" title="Toren, A., Rozenfeld-Granot, G., Rocca, B., Epstein, C. J., Amariglio, N., Laghi, F., Landolfi, R., Brok-Simoni, F., Carlsson, L. E., Rechavi, G., Greinacher, A. &lt;strong&gt;Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.&lt;/strong&gt; Blood 96: 3447-3451, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11071640/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11071640&lt;/a&gt;]" pmid="11071640">Toren et al. (2000)</a> found a maximum 2-point lod score of 3.41 with marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5011389+11071640" 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 id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>The <a href="#28" class="mim-tip-reference" title="May-Hegglin/Fechtner Syndrome Consortium. &lt;strong&gt;Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.&lt;/strong&gt; Nature Genet. 26: 103-105, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10973259/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10973259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/79063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10973259">May-Hegglin/Fechtner Syndrome Consortium (2000)</a> identified 6 heterozygous MYH9 mutations in 7 unrelated probands with one or another of the 3 autosomal dominant giant platelet disorders: May-Hegglin anomaly (R1933X, <a href="/entry/160775#0001">160775.0001</a> and E1841K, <a href="/entry/160775#0002">160775.0002</a>), Fechtner syndrome (D1424H, <a href="/entry/160775#0005">160775.0005</a> and R792C, <a href="/entry/160775#0006">160775.0006</a>), and Sebastian syndrome (T1155I; <a href="/entry/160775#0007">160775.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973259" 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="#21" class="mim-tip-reference" title="Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F. &lt;strong&gt;Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.&lt;/strong&gt; Nature Genet. 26: 106-108, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10973260/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10973260&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/79069&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10973260">Kelley et al. (2000)</a> also identified mutations in the MYH9 gene in 10 unrelated patients with May-Hegglin anomaly: E1841K in 5 families, R1933X in 4 families, and T1155I in the last family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family reported by <a href="#36" class="mim-tip-reference" title="Rocca, B., Laghi, F., Zini, G., Maggiano, N., Landolfi, R. &lt;strong&gt;Fechtner syndrome: report of a third family and literature review.&lt;/strong&gt; Brit. J. Haemat. 85: 423-426, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8280620/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8280620&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2141.1993.tb03193.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8280620">Rocca et al. (1993)</a> in which 10 of 14 individuals had macrothrombocytopenia with leukocyte inclusions and only some of the 10 had deafness, nephritis, and cataracts, <a href="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. &lt;strong&gt;Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.&lt;/strong&gt; Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11590545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11590545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/324267&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11590545">Heath et al. (2001)</a> identified a heterozygous mutation in the MYH9 gene (E1841K; <a href="/entry/160775#0002">160775.0002</a>) in all affected members. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8280620+11590545" 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="#15" class="mim-tip-reference" title="Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A. &lt;strong&gt;Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.&lt;/strong&gt; Am. J. Hum. Genet. 69: 1033-1045, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11590545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11590545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/324267&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11590545">Heath et al. (2001)</a> found that the original family reported by <a href="#6" class="mim-tip-reference" title="Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R. &lt;strong&gt;Hereditary macrothrombocytopathia, nephritis and deafness.&lt;/strong&gt; Am. J. Med. 52: 299-310, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5011389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5011389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(72)90017-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5011389">Epstein et al. (1972)</a> had a missense mutation (R702C; <a href="/entry/160775#0006">160775.0006</a>) in the MYH9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5011389+11590545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of the family with macrothrombocytopenia and progressive sensorineural hearing loss reported by <a href="#3" class="mim-tip-reference" title="Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G. &lt;strong&gt;Macrothrombocytopenia and progressive deafness: a new genetic syndrome.&lt;/strong&gt; Am. J. Otol. 13: 507-511, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1449176/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1449176&lt;/a&gt;]" pmid="1449176">Brodie et al. (1992)</a>, <a href="#29" class="mim-tip-reference" title="Mhatre, A. N., Kim, Y., Brodie, H. A., Lalwani, A. K. &lt;strong&gt;Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.&lt;/strong&gt; Otol. Neurotol. 24: 205-209, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12621333/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12621333&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00129492-200303000-00013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12621333">Mhatre et al. (2003)</a> identified a missense mutation (D142N; <a href="/entry/160775#0010">160775.0010</a>) in the MYH9 gene. They noted that the same mutation has been found in May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1449176+12621333" 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 Japanese patient with macrothrombocytopenia and deafness, <a href="#24" class="mim-tip-reference" title="Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T., Saito, H. &lt;strong&gt;Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.&lt;/strong&gt; Europ. J. Haemat. 74: 1-5, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15613099/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15613099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0609.2004.00328.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15613099">Kunishima et al. (2005)</a> identified a heterozygous deletion in the MYH9 gene (<a href="/entry/160775#0015">160775.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15613099" 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 id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<p>In a study of 108 patients from 50 unrelated pedigrees with MYH9 mutations, <a href="#33" class="mim-tip-reference" title="Pecci, A., Panza, E., Pujol-Moix, N., Klersy, C., Di Bari, F., Bozzi, V., Gresele, P., Lethagen, S., Fabris, F., Dufour, C., Granata, A., Doubek, M., and 14 others. &lt;strong&gt;Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.&lt;/strong&gt; Hum. Mutat. 29: 409-417, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18059020/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18059020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20661&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18059020">Pecci et al. (2008)</a> found that 68% of families carried mutations in 1 of 4 residues: 702 in the motor domain (12 families) and residues 1424, 1841, and 1933 in the tail domain (9, 7, and 6 pedigrees, respectively). All subjects with mutations in the motor domain of MYH9 developed severe thrombocytopenia, nephritis, and deafness before the age of 40 years. Patients with mutations at residue 1424 or 1841 had a much lower risk of these complications, significantly higher platelet counts, and an intermediate clinical picture. Patients with mutations at residue 1933 did not develop kidney damage or cataracts but did develop deafness late in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18059020" 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="#25" class="mim-tip-reference" title="M&#x27;Rad, R., Sanak, M., Deschenes, G., Zhou, J., Bonaiti-Pellie, C., Holvoet-Vermaut, L., Heuertz, S., Gubler, M.-C., Broyer, M., Grunfeld, J.-P., Tryggvason, K., Hors-Cayla, M.-C. &lt;strong&gt;Alport syndrome: a genetic study of 31 families.&lt;/strong&gt; Hum. Genet. 90: 420-426, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1483700/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1483700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00220471&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1483700">M'Rad et al. (1992)</a> reported studies of 31 families with Alport syndrome. One family had a severe form of the disease with deafness and end-stage renal disease (ESRD) at the age of 14 but without ocular signs of Alport syndrome. <a href="#25" class="mim-tip-reference" title="M&#x27;Rad, R., Sanak, M., Deschenes, G., Zhou, J., Bonaiti-Pellie, C., Holvoet-Vermaut, L., Heuertz, S., Gubler, M.-C., Broyer, M., Grunfeld, J.-P., Tryggvason, K., Hors-Cayla, M.-C. &lt;strong&gt;Alport syndrome: a genetic study of 31 families.&lt;/strong&gt; Hum. Genet. 90: 420-426, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1483700/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1483700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00220471&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1483700">M'Rad et al. (1992)</a> considered the disorder to be X-linked in this family because the mother was less severely affected than the son. In both mother and son, macrothrombocytopathia and inclusions resembling Dohle bodies were observed. The segregation of the only informative marker was consistent with X-linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1483700" 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 id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Bernheim1976" class="mim-tip-reference" title="Bernheim, J., Dechavanne, M., Bryon, P. A., Lagarde, M., Colon, S., Pozet, N., Traeger, J. &lt;strong&gt;Thrombocytopenia, macrothrombocytopathia, nephritis and deafness.&lt;/strong&gt; Am. J. Med. 61: 145-150, 1976.">Bernheim et al. (1976)</a>; <a href="#Cabrera1981" class="mim-tip-reference" title="Cabrera, J. R., Fontan, G., Lorente, F., Regidor, C., Fernandez, M. N. &lt;strong&gt;Defective neutrophil mobility in the May-Hegglin anomaly.&lt;/strong&gt; Brit. J. Haemat. 47: 337-343, 1981.">Cabrera et al. (1981)</a>; <a href="#Eckstein1975" class="mim-tip-reference" title="Eckstein, J. D., Filip, D. J., Watts, J. C. &lt;strong&gt;Hereditary thrombocytopenia, deafness and renal disease.&lt;/strong&gt; Ann. Intern. Med. 82: 639-645, 1975.">Eckstein et al.
(1975)</a>; <a href="#Godwin1974" class="mim-tip-reference" title="Godwin, H. A., Ginsburg, A. D. &lt;strong&gt;May-Hegglin anomaly: a defect in megakaryocyte.&lt;/strong&gt; Brit. J. Haemat. 26: 117-128, 1974.">Godwin and Ginsburg (1974)</a>; <a href="#Hansen1978" class="mim-tip-reference" title="Hansen, M. S., Behnke, O., Pedersen, N. T., Videbaek, A. &lt;strong&gt;Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis.&lt;/strong&gt; Scand. J. Haemat. 21: 197-205, 1978.">Hansen et al. (1978)</a>; <a href="#Jordan1965" class="mim-tip-reference" title="Jordan, S. W., Larsen, W. E. &lt;strong&gt;Ultrastructural studies of the May-Hegglin anomaly.&lt;/strong&gt; Blood 25: 921-932, 1965.">Jordan and
Larsen (1965)</a>
</span>
<div>
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</div>
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</div>
<div>
<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Balduini2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Balduini, C. L., Pecci, A., Aavoia, A.
<strong>Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.</strong>
Brit. J. Haemat. 154: 161-174, 2011.
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[<a href="https://doi.org/10.1111/j.1365-2141.2011.08716.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Bernheim1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bernheim, J., Dechavanne, M., Bryon, P. A., Lagarde, M., Colon, S., Pozet, N., Traeger, J.
<strong>Thrombocytopenia, macrothrombocytopathia, nephritis and deafness.</strong>
Am. J. Med. 61: 145-150, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/945691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">945691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=945691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(76)90058-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Brodie1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G.
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</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Cabrera1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cabrera, J. R., Fontan, G., Lorente, F., Regidor, C., Fernandez, M. N.
<strong>Defective neutrophil mobility in the May-Hegglin anomaly.</strong>
Brit. J. Haemat. 47: 337-343, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7459275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7459275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7459275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1981.tb02800.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Eckstein1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eckstein, J. D., Filip, D. J., Watts, J. C.
<strong>Hereditary thrombocytopenia, deafness and renal disease.</strong>
Ann. Intern. Med. 82: 639-645, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1137259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1137259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1137259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-82-5-639" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Epstein1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R.
<strong>Hereditary macrothrombocytopathia, nephritis and deafness.</strong>
Am. J. Med. 52: 299-310, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5011389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5011389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5011389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(72)90017-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Fujita1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fujita, Y., Fujii, T., Nishio, A., Tuboi, K., Tsuji, K., Nakamura, M.
<strong>Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.</strong>
Am. J. Hemat. 35: 219-221, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2171328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2171328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2171328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajh.2830350317" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Gershoni-Baruch1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gershoni-Baruch, R., Baruch, Y., Viener, A., Lichtig, C.
<strong>Fechtner syndrome: clinical and genetic aspects.</strong>
Am. J. Med. Genet. 31: 357-367, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3232700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3232700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3232700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320310213" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Godwin1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Godwin, H. A., Ginsburg, A. D.
<strong>May-Hegglin anomaly: a defect in megakaryocyte.</strong>
Brit. J. Haemat. 26: 117-128, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4853110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4853110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4853110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1974.tb00455.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Greaves1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greaves, M., Pickering, C., Martin, J., Cartwright, I., Preston, F. E.
<strong>A new familial 'giant platelet syndrome' with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect.</strong>
Brit. J. Haemat. 65: 429-435, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3580299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3580299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3580299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1987.tb04145.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Greinacher1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greinacher, A., Bux, J., Kiefel, V., White, J. G., Mueller-Eckhardt, C.
<strong>May-Hegglin anomaly: a rare cause of thrombocytopenia.</strong>
Europ. J. Pediat. 151: 668-671, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1396928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1396928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1396928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01957570" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Greinacher1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greinacher, A., Mueller-Eckhardt, C.
<strong>Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes.</strong>
Blut 60: 53-60, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2154271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2154271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2154271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01720508" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="13" class="mim-anchor"></a>
<a id="Greinacher1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greinacher, A., Nieuwenhuis, H. K., White, J. C.
<strong>Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.</strong>
Blut 61: 282-288, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2176899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2176899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2176899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF01732878" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="14" class="mim-anchor"></a>
<a id="Hansen1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hansen, M. S., Behnke, O., Pedersen, N. T., Videbaek, A.
<strong>Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis.</strong>
Scand. J. Haemat. 21: 197-205, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/715372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">715372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=715372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1600-0609.1978.tb00354.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Heath2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heath, K. E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L. E., Savige, J., Denison, J. C., Gregory, M. C., White, J. G., Barker, D. F., Greinacher, A., Epstein, C. J., Glucksman, M. J., Martignetti, J. A.
<strong>Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.</strong>
Am. J. Hum. Genet. 69: 1033-1045, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11590545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11590545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11590545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/324267" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Hegglin1945" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hegglin, R.
<strong>Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten.</strong>
Helv. Med. Acta 12: 439-440, 1945.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21009925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21009925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21009925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="17" class="mim-anchor"></a>
<a id="Heynen1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heynen, M. J., Blockmans, D., Verwilghen, R. L., Vermylen, J.
<strong>Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes.</strong>
Brit. J. Haemat. 70: 441-448, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2851314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2851314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2851314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1988.tb02514.x" target="_blank">Full Text</a>]
</p>
</div>
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<a id="18" class="mim-anchor"></a>
<a id="Jenis1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jenis, E. H., Takeuchi, A., Dillon, D. E., Ruymann, F. B., Rivkin, S.
<strong>The May-Hegglin anomaly: ultrastructure of the granulocyte inclusion.</strong>
Am. J. Clin. Path. 55: 187-196, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5100207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5100207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5100207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/ajcp/55.2.187" target="_blank">Full Text</a>]
</p>
</div>
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<a id="19" class="mim-anchor"></a>
<a id="Jordan1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jordan, S. W., Larsen, W. E.
<strong>Ultrastructural studies of the May-Hegglin anomaly.</strong>
Blood 25: 921-932, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14294769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14294769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14294769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Kelley2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelley, M. J., Jawien, W., Lin, A., Hoffmeister, K., Pugh, E. W., Doheny, K. F., Korczak, J. F.
<strong>Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.</strong>
Hum. Genet. 106: 557-564, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390000294" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Kelley2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kelley, M. J., Jawien, W., Ortel, T. L., Korczak, J. F.
<strong>Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.</strong>
Nature Genet. 26: 106-108, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/79069" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Kunishima1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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<strong>Mapping of a gene for May-Hegglin anomaly to chromosome 22q.</strong>
Hum. Genet. 105: 379-383, 1999.
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[<a href="https://doi.org/10.1007/s004390051119" target="_blank">Full Text</a>]
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<a id="Kunishima1997" class="mim-anchor"></a>
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<p class="mim-text-font">
Kunishima, S., Lopez, J. A., Kobayashi, S., Imai, N., Kamiya, T., Saito, H., Naoe, T.
<strong>Missense mutations of the glycoprotein (GP) Ib-beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.</strong>
Blood 89: 2404-2412, 1997.
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<a id="24" class="mim-anchor"></a>
<a id="Kunishima2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T., Saito, H.
<strong>Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.</strong>
Europ. J. Haemat. 74: 1-5, 2005.
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[<a href="https://doi.org/10.1111/j.1600-0609.2004.00328.x" target="_blank">Full Text</a>]
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<a id="M&#x27;Rad1992" class="mim-anchor"></a>
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M'Rad, R., Sanak, M., Deschenes, G., Zhou, J., Bonaiti-Pellie, C., Holvoet-Vermaut, L., Heuertz, S., Gubler, M.-C., Broyer, M., Grunfeld, J.-P., Tryggvason, K., Hors-Cayla, M.-C.
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[<a href="https://doi.org/10.1007/BF00220471" target="_blank">Full Text</a>]
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<a id="Martignetti2000" class="mim-anchor"></a>
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Martignetti, J. A., Heath, K. E., Harris, J., Bizzaro, N., Savoia, A., Balduini, C. L., Desnick, R. J.
<strong>The gene for May-Hegglin anomaly localizes to a less than 1-Mb region on chromosome 22q12.3-13.1.</strong>
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[<a href="https://doi.org/10.1086/302873" target="_blank">Full Text</a>]
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<a id="May1909" class="mim-anchor"></a>
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May-Hegglin/Fechtner Syndrome Consortium.
<strong>Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.</strong>
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[<a href="https://doi.org/10.1038/79063" target="_blank">Full Text</a>]
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<a id="Mhatre2003" class="mim-anchor"></a>
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Mhatre, A. N., Kim, Y., Brodie, H. A., Lalwani, A. K.
<strong>Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.</strong>
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[<a href="https://doi.org/10.1097/00129492-200303000-00013" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Nel, N., van Rensburg, B. W. J., du Plessis, L., Potgieter, C. D., Stevens, K.
<strong>Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure.</strong>
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[<a href="https://doi.org/10.1002/ajh.2830400311" target="_blank">Full Text</a>]
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<a id="Oski1962" class="mim-anchor"></a>
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Oski, F. A., Naiman, J. L., Allen, D. M., Diamond, L. K.
<strong>Leukocytic inclusions--Dohle bodies--associated with platelet abnormality (the May-Hegglin anomaly): report of a family and review of the literature.</strong>
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<a id="Parsa1976" class="mim-anchor"></a>
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Parsa, K. P., Lee, D. B. N., Zamboni, L., Glassock, R. J.
<strong>Hereditary nephritis, deafness and abnormal thrombopoiesis: study of a new kindred.</strong>
Am. J. Med. 60: 665-672, 1976.
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[<a href="https://doi.org/10.1016/0002-9343(76)90501-5" target="_blank">Full Text</a>]
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<a id="Pecci2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Pecci, A., Panza, E., Pujol-Moix, N., Klersy, C., Di Bari, F., Bozzi, V., Gresele, P., Lethagen, S., Fabris, F., Dufour, C., Granata, A., Doubek, M., and 14 others.
<strong>Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.</strong>
Hum. Mutat. 29: 409-417, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18059020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18059020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18059020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20661" target="_blank">Full Text</a>]
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<a id="Peterson1985" class="mim-anchor"></a>
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<p class="mim-text-font">
Peterson, L. C., Rao, K. V., Crosson, J. T., White, J. G.
<strong>Fechtner syndrome: a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.</strong>
Blood 65: 397-406, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2981587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2981587</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2981587" 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="Rabbolini2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rabbolini, D. J., Chun, Y., Latimer, M., Kunishima, S., Fixter, K., Valecha, B., Tan, P., Chew, L. P., Kile, B. T., Burt, R., Radhakrishnan, K., Bird, R., Ockelford, P., Gabrielli, S., Chen, Q., Stevenson, W. S., Ward, C. M., Morel-Koop, M.-C.
<strong>Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.</strong>
Platelets 29: 793-800, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29090586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29090586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29090586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1080/09537104.2017.1356920" target="_blank">Full Text</a>]
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<a id="Rocca1993" class="mim-anchor"></a>
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Rocca, B., Laghi, F., Zini, G., Maggiano, N., Landolfi, R.
<strong>Fechtner syndrome: report of a third family and literature review.</strong>
Brit. J. Haemat. 85: 423-426, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8280620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8280620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8280620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1365-2141.1993.tb03193.x" target="_blank">Full Text</a>]
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<a id="Savoia2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Savoia, A., De Rocco, D., Panza, E., Bozzi, V., Scandellari, R., Loffredo, G., Mumford, A., Heller, P. G., Noris, P., De Groot, M. R., Giani, M., Freddi, P., Scognamiglio, F., Riondino, S., Pujol-Moix, N., Fabris, F., Seri, M., Balduini, C. L., Pecci, A.
<strong>Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.</strong>
Thromb. Haemost. 103: 826-832, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20174760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20174760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20174760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1160/TH09-08-0593" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
<a id="Seri2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seri, M., Pecci, A., Di Bari, F., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., and 13 others.
<strong>MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.</strong>
Medicine 82: 203-215, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12792306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12792306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12792306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/01.md.0000076006.64510.5c" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Toren1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Toren, A., Amariglio, N., Rozenfeld-Granot, G., Simon, A. J., Brok-Simoni, F., Pras, E., Rechavi, G.
<strong>Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.</strong>
Am. J. Hum. Genet. 65: 1711-1717, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302654" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
<a id="Toren2000" class="mim-anchor"></a>
<div class="">
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Toren, A., Rozenfeld-Granot, G., Rocca, B., Epstein, C. J., Amariglio, N., Laghi, F., Landolfi, R., Brok-Simoni, F., Carlsson, L. E., Rechavi, G., Greinacher, A.
<strong>Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.</strong>
Blood 96: 3447-3451, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11071640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11071640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11071640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="41" class="mim-anchor"></a>
<a id="Utsch2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Utsch, B., DiFeo, A., Kujat, A., Karle, S., Schuster, V., Lenk, H., Jacobs, U., Muller, M., Dotsch, J., Rascher, W., Reutter, H., Martignetti, J. A., Ludwig, M., Trobs, R.-B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16969870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16969870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16969870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31454" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 06/13/2018
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Cassandra L. Kniffin - updated : 9/22/2010<br>Victor A. McKusick - updated : 4/3/2001<br>Victor A. McKusick - updated : 8/29/2000<br>Victor A. McKusick - updated : 6/13/2000<br>Victor A. McKusick - updated : 4/13/2000<br>Victor A. McKusick - updated : 12/6/1999
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Victor A. McKusick : 6/2/1986
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carol : 01/15/2019<br>carol : 06/14/2018<br>carol : 06/13/2018<br>carol : 05/19/2016<br>carol : 8/10/2015<br>carol : 9/12/2011<br>ckniffin : 9/8/2011<br>carol : 9/23/2010<br>ckniffin : 9/22/2010<br>carol : 3/29/2005<br>cwells : 11/7/2003<br>cwells : 4/6/2001<br>cwells : 4/4/2001<br>mcapotos : 4/3/2001<br>alopez : 8/31/2000<br>terry : 8/29/2000<br>mcapotos : 7/20/2000<br>terry : 6/13/2000<br>carol : 4/20/2000<br>terry : 4/13/2000<br>yemi : 2/18/2000<br>mgross : 12/8/1999<br>terry : 12/6/1999<br>mimadm : 11/6/1994<br>carol : 3/26/1993<br>carol : 1/28/1993<br>carol : 8/28/1992<br>supermim : 3/16/1992<br>carol : 1/8/1991
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<strong>#</strong> 155100
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MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS
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<em>Alternative titles; symbols</em>
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BLEEDING DISORDER, PLATELET-TYPE, 6; BDPLT6<br />
MAY-HEGGLIN ANOMALY; MHA<br />
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS<br />
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS<br />
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA<br />
SEBASTIAN SYNDROME; SBS<br />
SEBASTIAN PLATELET SYNDROME<br />
MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS<br />
EPSTEIN SYNDROME; EPSTNS<br />
MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS<br />
MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS<br />
FECHTNER SYNDROME; FTNS<br />
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS<br />
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY; APSM, FORMERLY
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<strong>SNOMEDCT:</strong> 712922002; &nbsp;
<strong>ORPHA:</strong> 182050; &nbsp;
<strong>DO:</strong> 0060651; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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22q12.3
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Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
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155100
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Autosomal dominant
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3
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MYH9
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160775
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) is caused by heterozygous mutation in the gene encoding nonmuscle myosin heavy chain-9 (MYH9; 160775) on chromosome 22q12.</p>
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<strong>Description</strong>
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<p>Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (301050)-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17; 603622) is also caused by mutation in the MYH9 gene. </p>
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<strong>Clinical Features</strong>
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<p>May (1909) described inclusion bodies in granulocytes from the peripheral blood of an asymptomatic 24-year-old woman. Hegglin (1945) observed the triad of thrombocytopenia, giant platelets, and inclusion bodies in the leukocytes in 2 generations of a family. The leukocyte inclusions consisted of cytoplasmic RNA-containing inclusions, so-called Dohle bodies, which can also be seen transiently during acute infections. </p><p>Oski et al. (1962) observed the same anomaly in a mother and her 2 children. Of 24 reported cases, 9 had thrombocytopenia. </p><p>Jenis et al. (1971) suggested a hypothetical model for the development of the May-Hegglin inclusions based on ultrastructural studies of marrow precursors containing the inclusions. They suggested that the filaments represent completely unfolded, i.e., depolymerized, ribosomes. Similar basophilic inclusions occurred in the Fechtner syndrome. </p><p>Epstein et al. (1972) described 2 unrelated families, each with 2 members with macrothrombocytopathia, nephritis, and deafness. In 1 family, a third member, a young child, had the platelet disorder and mild hearing loss. Except for the greater severity in females, the renal disease was indistinguishable from that of X-linked Alport syndrome (301050). Likewise, the high frequency sensorineural hearing loss was similar to that in Alport syndrome. Thrombocytopenia was present with giant platelets showing abnormal ultrastructure and defective adherence to glass, and the bleeding time was prolonged. Aggregation of platelets in response to collagen and epinephrine and release of phospholipids were all impaired, and the release of nucleotide after exposure to collagen was abnormally low. </p><p>Parsa et al. (1976) reported another kindred with the triad of hereditary nephritis, deafness, and thrombocytopenia with giant platelets. Electron microscopic studies of megakaryocytes led the authors to suggest that the giant platelets may result from a degenerative process in megakaryocytes leading to nuclear regression and cytoplasmic fragmentation, rather than from the normal blebbing process. </p><p>Peterson et al. (1985) reported a family in which 8 members of 4 generations showed nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions in various combinations. The authors referred to the disorder as the 'Fechtner syndrome,' presumably from the surname of the family. The family differed from others reported, such as families with Epstein syndrome, in that their hematologic abnormalities included not only macrothrombocytopenia but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Light microscopic appearance of the inclusions resembled that of toxic Dohle bodies and inclusions of May-Hegglin anomaly, but their ultrastructural appearance was unique. Deafness was high-tone sensorineural. Renal disease ranged from microscopic hematuria to end-stage renal failure necessitating dialysis and kidney transplantation. All affected adults had cataracts. Gershoni-Baruch et al. (1988) reported a second family with Fechtner syndrome; 16 members were affected. </p><p>In 6 members of 4 sibships in 3 generations of a kindred, Greaves et al. (1987) described thrombocytopenia with giant platelets. The proband was a 38-year-old white European male with a lifelong history of easy bruising. At the age of 18 months, he had suffered gastrointestinal hemorrhage, requiring blood transfusion. He had had prolonged hemorrhage after extraction of teeth, and vasectomy was complicated by hematomas. One patient underwent splenectomy for thrombocytopenia during childhood with no benefit. Greaves et al. (1987) described qualitative and quantitative platelet defects, which they suggested might be secondary to a disturbance of megakaryocyte cytoplasmic fragmentation. </p><p>Heynen et al. (1988) described the Fechtner syndrome in a female patient who had developed multiple ecchymoses from the time she started walking at the age of 1 year, due to severe thrombocytopenia. Hearing problems developing at the age of 8 years progressed to almost complete deafness. The blood smear showed giant platelets the size of granulocytes. The patient had moderate proteinuria, but there were no abnormalities in the urinary sediment or in renal function. Heynen et al. (1988) postulated an abnormality in the cytoskeleton of megakaryocytes such that formation of the demarcation membrane system and the expulsion of platelets do not occur normally. </p><p>Fujita et al. (1990) described the May-Hegglin anomaly in a 39-year-old male and his son and daughter. All 3 also had spastic paraplegia, which began in the offspring at about age 12 and in the father at about age 20. Renal function was normal. </p><p>Greinacher et al. (1990) described the Sebastian platelet syndrome, a variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differed from those found in patients with May-Hegglin anomaly, the Chediak-Higashi syndrome (214500), or individuals with septicemia, and toxic Dohle bodies in polymorphonuclear leukocytes. The inclusions in polymorphonuclear leukocytes were similar to those found in patients with Fechtner syndrome. </p><p>Greinacher and Mueller-Eckhardt (1990) referred to the Sebastian platelet syndrome as an autosomal dominant disorder characterized by the same hematologic changes as those in the Fechtner syndrome, but without the manifestations of Alport syndrome. </p><p>In a patient with end-stage renal failure being prepared for renal transplant and in his healthy brother, Nel et al. (1992) found the May-Hegglin anomaly. They concluded that there was no relation to the renal failure. Almost all neutrophils contained at least one inclusion body. These bodies were larger than toxic Dohle bodies found in septicemia, stained better, and were not accompanied by toxic granulation in the cytoplasm. Most of the inclusions were spindle shaped and occurred in any location in the cell cytoplasm as compared with the smaller, more irregular or rounded Dohle bodies, which tended to have a peripheral location in the cell. On electron microscopy, the bodies were shown to have parallel filaments oriented in the long axis of the inclusion. </p><p>Greinacher et al. (1992) described 2 families with May-Hegglin anomaly, one with 4 and the other with 3 affected persons. Platelet counts were markedly reduced and were correctly determined only in the counting chamber. Bleeding time and platelet aggregation were normal, but platelet nucleotide concentrations (ATP and ADP) were elevated. Giant platelets and spindle-shaped inclusion bodies were found in the granulocytes, which functioned normally. Both families were ascertained through a child who was found to have thrombocytopenia during acute infection. Misdiagnosis in such cases can lead to mismanagement, including the use of dangerous therapy. </p><p>Brodie et al. (1992) reported a kindred with hereditary macrothrombocytopenia and progressive sensorineural hearing loss. None of the family members had any evidence of renal dysfunction. The disorder was inherited by and through females in 4 generations. Hearing impairment began before the third decade and progressed to severe to profound bilateral hearing loss by the fourth decade. The platelet disorder manifested in early childhood and persisted lifelong, although it tended to remain asymptomatic. </p><p>Rocca et al. (1993) reported a 4-generation family in which 10 of 14 individuals had macrothrombocytopenia with leukocyte inclusions. Some, but not all, affected members had Alport-like symptoms, such as deafness, nephritis, and cataracts. For example, members aged less than 50 years had clinically silent ocular abnormalities, mainly lens opacities. These observations were consistent with 'reduced expression of Alport manifestations,' thus showing similarity to Sebastian syndrome. </p><p>Kelley et al. (2000) noted that about 25 to 50% of affected individuals with May-Hegglin anomaly have mild to moderate episodic bleeding. </p><p>Seri et al. (2003) found sensorineural hearing loss for high tones in 9 (82%) of 11 patients initially diagnosed as having May-Hegglin anomaly or Sebastian syndrome. Three patients with May-Hegglin anomaly or Sebastian syndrome were found to have cataracts. In addition, microscopic hematuria or proteinuria was found in 4 patients with May-Hegglin anomaly and 2 with Sebastian syndrome. These findings emphasized the phenotypic overlap among disorders caused by mutation in the MYH9 gene. </p><p>Using immunocytochemical analysis, Seri et al. (2003) detected an irregular distribution of myosin in neutrophil cytoplasm of all 22 patients with mutations in the MYH9 gene, including 5 patients with a diagnosis of Epstein syndrome. Large myosin aggregates appeared as Dohle-like bodies, whereas the smaller ones were not readily recognizable on Giemsa-stained peripheral blood smears. </p><p>Kunishima et al. (2005) reported a 45-year-old Japanese man with macrothrombocytopenia and severe bilateral sensorineural deafness, but no evidence of renal dysfunction. Leukocyte morphology on conventional Giemsa staining was ambiguous, but immunofluorescence staining showed abnormal subcellular localization of MYH9. The MYH9-positive structures showed a thread-like appearance, not punctuated or granular as often described in other MYH9-related disorders. </p><p>Utsch et al. (2006) reported a newborn girl diagnosed with Epstein syndrome who had a heterozygous mutation in the MYH9 gene (160775.0012). Although she did not show deafness or nephritis, she had macrothrombocytopenia and impaired platelet aggregation response to ADP and epinephrine. Bone marrow aspirate showed enhanced megakaryocytopoiesis with predominance of immature and dysplastic megakaryocytes. Erythropoiesis and granulocytopoiesis were normal. In addition, she had classic exstrophy of the bladder (600057). Prenatal ultrasound studies showed protrusion of the abdominal wall and a single umbilical artery. After birth, she was noted to have diastasis of the symphysis, epispadic open urethral groove, bifid clitoris and labia minora, an open laying bladder plate, and duplication of the vagina. The authors noted the young age of the patient and suggested that she may develop deafness and/or nephritis in the future. Utsch et al. (2006) suggested that although MYH9 mutations had not previously been associated with urogenital malformations, the mutation may have played a role in the bladder exstrophy in this patient. </p>
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<strong>Diagnosis</strong>
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<p>Savoia et al. (2010) investigated 118 consecutive unrelated patients with a clinical presentation of macrothrombocytopenia with or without progressive sensorineural hearing loss, presenile cataract, and renal damage. All patients prospectively underwent immunofluorescence assay for myosin-9 aggregate dectection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of whom (98%) also had an MYH9 mutation. Neither aggregates nor an MYH9 mutation was identified in the remaining 36 patients. The authors concluded that neutrophil inclusions of myosin-9 are a pathognomonic sign of the disorder. </p><p>Rabbolini et al. (2018) noted the frequent misdiagnosis of this disorder as immune thrombocytopenia with subsequent mismanagement. Features resulting in misdiagnosis include a lack of family history due to the occurrence of de novo mutations in as many as 20 to 35% of cases; bleeding symptoms that are often mild and not always reported in childhood; failure of automated counters to reliably estimate platelet number and size (MPV) due to the presence of giant platelets; and pathognomonic neutrophil inclusions that are not always easily visible on Romanowsky-Giemsa-stained blood films. </p>
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<strong>Inheritance</strong>
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<p>Macrothrombocytopenia and granular inclusion bodies with or without nephritis or sensorineural hearing loss is inherited in an autosomal dominant manner (May-Hegglin/Fechtner Syndrome Consortium, 2000). </p>
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<strong>Mapping</strong>
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<p>In a Japanese family with May-Hegglin anomaly, Kunishima et al. (1999) performed a genomewide linkage study using highly polymorphic short tandem repeat markers. Linkage was found with chromosome 22q12.3-q13.2, with a maximum 2-point lod score of 4.52 at a recombination fraction of 0.00 for markers D22S1142 and D22S277. Haplotype analysis mapped a critical region for the disease locus to a 13.6-cM region, between D22S280 and D22S272. The relative proximity of the GP1BB gene (138720) on 22q11.2, as well as its involvement in autosomal dominant isolated giant platelet disease (see 231200) (Kunishima et al., 1997), suggested a possible involvement of GP1BB in MHA. However, sequence analysis in 2 patients showed no abnormality in the GP1BB gene. </p><p>Martignetti et al. (2000) confirmed the assignment of the MHA locus to 22q12.3-q13.1, and determined that the physical size of the MHA region is 0.7 Mb. </p><p>In a genomewide linkage screen in 3 families with MHA, Kelley et al. (2000) found a maximum lod score of 3.91 at a recombination fraction of 0.076 for marker D22S683. Within the largest family, the maximum lod score was 5.36 at theta = 0.00 at marker D22S445. Fine mapping of recombination events using 8 adjacent markers indicated that the minimal disease region in this largest family alone is in a region of approximately 26 cM from D22S683 to the telomere. The maximum lod score for the 3 families combined was 5.84 at theta = 0.00 for marker IL2RB (146710), which maps to 22q11.2-q13. </p><p>In an extended Israeli family with Fechtner syndrome plus impaired liver functions and hypercholesterolemia in some individuals, Toren et al. (1999) mapped the disease-causing gene to the long arm of chromosome 22. Six markers yielded a lod score of more than 3.00. A maximum 2-point lod score of 7.02 was obtained with the marker D22S283 at a recombination fraction of 0.0. Recombination analysis placed the disease-causing gene in a 5.5-Mb interval between markers D22S284 and D22S1167. Toren et al. (1999) stated that no collagen genes or genes comprising the basement membrane had been mapped to this region, 22q12.1-q13.2. Toren et al. (2000) mapped Epstein syndrome to the same region of chromosome 22q, suggesting that it is allelic to Fechtner syndrome. </p><p>In linkage studies of the original family described by Epstein et al. (1972), Toren et al. (2000) found a maximum 2-point lod score of 3.41 with marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. </p>
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<strong>Molecular Genetics</strong>
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<p>The May-Hegglin/Fechtner Syndrome Consortium (2000) identified 6 heterozygous MYH9 mutations in 7 unrelated probands with one or another of the 3 autosomal dominant giant platelet disorders: May-Hegglin anomaly (R1933X, 160775.0001 and E1841K, 160775.0002), Fechtner syndrome (D1424H, 160775.0005 and R792C, 160775.0006), and Sebastian syndrome (T1155I; 160775.0007). </p><p>Kelley et al. (2000) also identified mutations in the MYH9 gene in 10 unrelated patients with May-Hegglin anomaly: E1841K in 5 families, R1933X in 4 families, and T1155I in the last family. </p><p>In a family reported by Rocca et al. (1993) in which 10 of 14 individuals had macrothrombocytopenia with leukocyte inclusions and only some of the 10 had deafness, nephritis, and cataracts, Heath et al. (2001) identified a heterozygous mutation in the MYH9 gene (E1841K; 160775.0002) in all affected members. </p><p>Heath et al. (2001) found that the original family reported by Epstein et al. (1972) had a missense mutation (R702C; 160775.0006) in the MYH9 gene. </p><p>In affected members of the family with macrothrombocytopenia and progressive sensorineural hearing loss reported by Brodie et al. (1992), Mhatre et al. (2003) identified a missense mutation (D142N; 160775.0010) in the MYH9 gene. They noted that the same mutation has been found in May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. </p><p>In a Japanese patient with macrothrombocytopenia and deafness, Kunishima et al. (2005) identified a heterozygous deletion in the MYH9 gene (160775.0015). </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In a study of 108 patients from 50 unrelated pedigrees with MYH9 mutations, Pecci et al. (2008) found that 68% of families carried mutations in 1 of 4 residues: 702 in the motor domain (12 families) and residues 1424, 1841, and 1933 in the tail domain (9, 7, and 6 pedigrees, respectively). All subjects with mutations in the motor domain of MYH9 developed severe thrombocytopenia, nephritis, and deafness before the age of 40 years. Patients with mutations at residue 1424 or 1841 had a much lower risk of these complications, significantly higher platelet counts, and an intermediate clinical picture. Patients with mutations at residue 1933 did not develop kidney damage or cataracts but did develop deafness late in life. </p>
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<strong>History</strong>
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<p>M'Rad et al. (1992) reported studies of 31 families with Alport syndrome. One family had a severe form of the disease with deafness and end-stage renal disease (ESRD) at the age of 14 but without ocular signs of Alport syndrome. M'Rad et al. (1992) considered the disorder to be X-linked in this family because the mother was less severely affected than the son. In both mother and son, macrothrombocytopathia and inclusions resembling Dohle bodies were observed. The segregation of the only informative marker was consistent with X-linkage. </p>
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<strong>See Also:</strong>
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Bernheim et al. (1976); Cabrera et al. (1981); Eckstein et al.
(1975); Godwin and Ginsburg (1974); Hansen et al. (1978); Jordan and
Larsen (1965)
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<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Balduini, C. L., Pecci, A., Aavoia, A.
<strong>Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.</strong>
Brit. J. Haemat. 154: 161-174, 2011.
[PubMed: 21542825]
[Full Text: https://doi.org/10.1111/j.1365-2141.2011.08716.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bernheim, J., Dechavanne, M., Bryon, P. A., Lagarde, M., Colon, S., Pozet, N., Traeger, J.
<strong>Thrombocytopenia, macrothrombocytopathia, nephritis and deafness.</strong>
Am. J. Med. 61: 145-150, 1976.
[PubMed: 945691]
[Full Text: https://doi.org/10.1016/0002-9343(76)90058-9]
</p>
</li>
<li>
<p class="mim-text-font">
Brodie, H. A., Chole, R. A., Griffin, G. C., White, J. G.
<strong>Macrothrombocytopenia and progressive deafness: a new genetic syndrome.</strong>
Am. J. Otol. 13: 507-511, 1992.
[PubMed: 1449176]
</p>
</li>
<li>
<p class="mim-text-font">
Cabrera, J. R., Fontan, G., Lorente, F., Regidor, C., Fernandez, M. N.
<strong>Defective neutrophil mobility in the May-Hegglin anomaly.</strong>
Brit. J. Haemat. 47: 337-343, 1981.
[PubMed: 7459275]
[Full Text: https://doi.org/10.1111/j.1365-2141.1981.tb02800.x]
</p>
</li>
<li>
<p class="mim-text-font">
Eckstein, J. D., Filip, D. J., Watts, J. C.
<strong>Hereditary thrombocytopenia, deafness and renal disease.</strong>
Ann. Intern. Med. 82: 639-645, 1975.
[PubMed: 1137259]
[Full Text: https://doi.org/10.7326/0003-4819-82-5-639]
</p>
</li>
<li>
<p class="mim-text-font">
Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., Ablin, A. R.
<strong>Hereditary macrothrombocytopathia, nephritis and deafness.</strong>
Am. J. Med. 52: 299-310, 1972.
[PubMed: 5011389]
[Full Text: https://doi.org/10.1016/0002-9343(72)90017-4]
</p>
</li>
<li>
<p class="mim-text-font">
Fujita, Y., Fujii, T., Nishio, A., Tuboi, K., Tsuji, K., Nakamura, M.
<strong>Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.</strong>
Am. J. Hemat. 35: 219-221, 1990.
[PubMed: 2171328]
[Full Text: https://doi.org/10.1002/ajh.2830350317]
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</li>
<li>
<p class="mim-text-font">
Gershoni-Baruch, R., Baruch, Y., Viener, A., Lichtig, C.
<strong>Fechtner syndrome: clinical and genetic aspects.</strong>
Am. J. Med. Genet. 31: 357-367, 1988.
[PubMed: 3232700]
[Full Text: https://doi.org/10.1002/ajmg.1320310213]
</p>
</li>
<li>
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Savoia, A., De Rocco, D., Panza, E., Bozzi, V., Scandellari, R., Loffredo, G., Mumford, A., Heller, P. G., Noris, P., De Groot, M. R., Giani, M., Freddi, P., Scognamiglio, F., Riondino, S., Pujol-Moix, N., Fabris, F., Seri, M., Balduini, C. L., Pecci, A.
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