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Entry
- #133100 - ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
- OMIM
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<span class="h4">#133100</span>
<br />
<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/133100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS133100"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=ERYTHROCYTOSIS, FAMILIAL" 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="http://www.informatics.jax.org/disease/133100" 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=000809,001186" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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>ORPHA:</strong> 90042<br />
<strong>DO:</strong> 0060652<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>
133100
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
</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">
POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP<br />
ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN
</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/9/27?start=-3&limit=10&highlight=27">
9p24.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Erythrocytosis, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133100"> 133100 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
JAK2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147796"> 147796 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/812?start=-3&limit=10&highlight=812">
12q24.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Erythrocytosis, somatic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133100"> 133100 </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
SH2B3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605093"> 605093 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/298?start=-3&limit=10&highlight=298">
19p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
[Erythrocytosis, familial, 1]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133100"> 133100 </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">
EPOR
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133171"> 133171 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/133100" 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/PS133100" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&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/133100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/133100" 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> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Myocardial infarction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22298006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22298006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I22</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926063</a>, <a href="https://bioportal.bioontology.org/search?q=C0027051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001658</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coronary artery disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414024009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414024009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443502000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443502000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53741008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53741008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I25.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I25.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/414.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">414.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956346</a>, <a href="https://bioportal.bioontology.org/search?q=C0010054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010054</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001677</a>]</span><br /> -
Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br /> -
Peripheral thrombosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849749</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002641</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002641</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Exertional dyspnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60845006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60845006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002875</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002875</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
</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">
- Plethora <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75246004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75246004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001050</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001050</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Headaches <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
Dizziness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404640003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404640003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012833</a>, <a href="https://bioportal.bioontology.org/search?q=C0042571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br /> -
Intracerebral hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274100004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274100004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">431</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001342</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">
- Erythrocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127062003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127062003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001901</a>]</span><br /> -
Increased red blood cell mass <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853288</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001898" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001898</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001898" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001898</a>]</span><br /> -
Increased hematocrit <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165413005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165413005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001899</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001899</a>]</span><br /> -
Increased hemoglobin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131141003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131141003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549448</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001900</a>]</span><br /> -
Normal oxygen affinity of hemoglobin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853289</a>]</span><br /> -
Hypersensitivity of erythroid colony-forming units to erythropoietin (EPO, <a href="/entry/133170">133170</a>)<br />
</span>
</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">
- Low or normal serum erythropoietin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851491</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">
- Fatigue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248274002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248274002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84229001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84229001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015672</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012378</a>]</span><br /> -
Variable phenotype, some patients have very mild symptoms<br /> -
See also ECYT2 (<a href="/entry/263400">263400</a>) and ECYT3 (<a href="/entry/609820">609820</a>)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the erythropoietin receptor gene (EPOR, <a href="/entry/133171#0001">133171.0001</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>
Erythrocytosis, familial
- <a href="/phenotypicSeries/PS133100">PS133100</a>
- 11 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/1/1801?start=-3&limit=10&highlight=1801"> 1q42.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609820"> Erythrocytosis, familial, 3 </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/609820"> 609820 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606425"> EGLN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606425"> 606425 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/228?start=-3&limit=10&highlight=228"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611783"> Erythrocytosis, familial, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611783"> 611783 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603349"> EPAS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603349"> 603349 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/52?start=-3&limit=10&highlight=52"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/263400"> Erythrocytosis, familial, 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/263400"> 263400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608537"> VHL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608537"> 608537 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/515?start=-3&limit=10&highlight=515"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617907"> Erythrocytosis, familial, 5 </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/617907"> 617907 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133170"> EPO </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133170"> 133170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/702?start=-3&limit=10&highlight=702"> 7q33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/222800"> Erythrocytosis, familial, 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/222800"> 222800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613896"> BPGM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613896"> 613896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/27?start=-3&limit=10&highlight=27"> 9p24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133100"> Erythrocytosis, somatic </a>
</span>
</td>
<td>
<span class="mim-font">
</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/133100"> 133100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147796"> JAK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147796"> 147796 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/110?start=-3&limit=10&highlight=110"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617980"> Erythrocytosis, familial, 6 </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/617980"> 617980 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141900"> HBB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141900"> 141900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/812?start=-3&limit=10&highlight=812"> 12q24.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/133100"> Erythrocytosis, somatic </a>
</span>
</td>
<td>
<span class="mim-font">
</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/133100"> 133100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605093"> SH2B3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605093"> 605093 </a>
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<a href="/geneMap/16/17?start=-3&limit=10&highlight=17"> 16p13.3 </a>
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<a href="/entry/617981"> Erythrocytosis, familial, 7 </a>
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<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/617981"> 617981 </a>
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<a href="/entry/141850"> HBA2 </a>
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<a href="/entry/141850"> 141850 </a>
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<a href="/geneMap/16/18?start=-3&limit=10&highlight=18"> 16p13.3 </a>
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<span class="mim-font">
<a href="/entry/617981"> Erythrocytosis, familial, 7 </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/617981"> 617981 </a>
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<a href="/entry/141800"> HBA1 </a>
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<span class="mim-font">
<a href="/entry/141800"> 141800 </a>
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<a href="/geneMap/19/298?start=-3&limit=10&highlight=298"> 19p13.2 </a>
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<span class="mim-font">
<a href="/entry/133100"> [Erythrocytosis, familial, 1] </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/133100"> 133100 </a>
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<a href="/entry/133171"> EPOR </a>
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<span class="mim-font">
<a href="/entry/133171"> 133171 </a>
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<p>A number sign (#) is used with this entry because familial erythrocytosis-1 (ECYT1) is caused by heterozygous mutation in the gene encoding the erythropoietin receptor (EPOR; <a href="/entry/133171">133171</a>) on chromosome 19p13.</p>
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<a id="description" class="mim-anchor"></a>
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<p>Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (<a href="/entry/133170">133170</a>), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (<a href="#15" class="mim-tip-reference" title="Kralovics, R., Sokol, L., Prchal, J. T. &lt;strong&gt;Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.&lt;/strong&gt; J. Clin. Invest. 102: 124-129, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9649565/&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;9649565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI2886&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="9649565">Kralovics et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9649565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Familial Erythrocytosis</em></strong></p><p>
See also ECYT2 (<a href="/entry/263400">263400</a>), caused by mutation in the VHL gene (<a href="/entry/608537">608537</a>) on chromosome 3p25; ECYT3 (<a href="/entry/609820">609820</a>), caused by mutation in the EGLN1 gene (<a href="/entry/606425">606425</a>) on chromosome 1q42; ECYT4 (<a href="/entry/611783">611783</a>), caused by mutation in the EPAS1 gene (<a href="/entry/603349">603349</a>) on chromosome 2p21; ECYT5 (<a href="/entry/617907">617907</a>), caused by mutation in the EPO gene (<a href="/entry/133170">133170</a>) on chromosome 7q22; ECYT6 (<a href="/entry/617980">617980</a>), caused by mutation in the HBB gene (<a href="/entry/141900">141900</a>) on chromosome 11q15; ECYT7 (<a href="/entry/617981">617981</a>), caused by mutation in the HBA genes (<a href="/entry/141800">141800</a>; <a href="/entry/141850">141850</a>) on chromosome 16p13; and ECYT8 (<a href="/entry/222800">222800</a>), caused by mutation in the BPGM gene (<a href="/entry/613896">613896</a>) on chromosome 7q33.</p><p><a href="#20" class="mim-tip-reference" title="Stamatoyannopoulos, G. &lt;strong&gt;Familial erythrocytosis.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 8(3): 39-45, 1972."None>Stamatoyannopoulos (1972)</a> reviewed causes of familial erythrocytosis and noted that the disorder may result from defects in the regulation of 2,3-diphosphoglycerate (see <a href="/entry/613896">613896</a> and <a href="/entry/222800">222800</a>).</p><p>Erythrocytosis may also be caused by somatic mutation in the JAK2 (<a href="/entry/147796">147796</a>) or the SH2B3 (<a href="/entry/605093">605093</a>) gene on chromosome 9p24 and 12q24, respectively.</p><p>For a review of the genetics of congenital erythrocytosis, see <a href="#3" class="mim-tip-reference" title="Bento, C., Percy, M. J., Gardie, B., Magalhaes Maia, T., van Wijk, R., Perrotta, S., Della Ragione F., Almeida, H., Rossi, C., Girodon, F., Astrom, M., Neumann, D., and 12 others. &lt;strong&gt;Genetic basis of congenital erythrocytosis: mutation update and online databases.&lt;/strong&gt; Hum. Mutat. 35: 15-26, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24115288/&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;24115288&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.22448&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="24115288">Bento et al. (2014)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24115288" 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="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>The term 'polycythemia' (Greek: 'many cells in the blood') is used interchangeably with 'erythrocytosis,' although the latter term more specifically refers to an increase in the number of circulating differentiated red blood cells (<a href="#17" class="mim-tip-reference" title="Prchal, J. T. &lt;strong&gt;Polycythemia vera and other primary polycythemias.&lt;/strong&gt; Curr. Opin. Hemat. 12: 112-116, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15725900/&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;15725900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.moh.0000154029.05396.d2&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="15725900">Prchal, 2005</a>; <a href="#4" class="mim-tip-reference" title="Cario, H. &lt;strong&gt;Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.&lt;/strong&gt; Ann. Hemat. 84: 137-145, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15599750/&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;15599750&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00277-004-0985-1&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="15599750">Cario, 2005</a>). 'Erythrocytosis' is the preferred term used here in order to distinguish inherited disorders characterized by increased circulating red blood cells from 'polycythemia vera' (PV; <a href="/entry/263300">263300</a>), which is a myeloproliferative disorder associated with somatic mutations in the JAK2 gene (<a href="/entry/147796">147796</a>). Familial erythrocytosis is also distinct from erythroleukemia (<a href="/entry/133180">133180</a>), which is considered to be a subtype of acute myelogenous leukemia (AML; <a href="/entry/601626">601626</a>) characterized by immature erythroid cells in the bone marrow and peripheral blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15725900+15599750" 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>Erythrocytosis can be classified as primary or secondary. Primary erythrocytosis is due to an intrinsic inherited or somatic defect in erythroid progenitor cells resulting in an enhanced response to circulating cytokines. In primary erythrocytosis, the red cell compartment expands independently of extrinsic influences. Familial erythrocytosis-1 is a primary erythrocytosis due to a defect in the EPOR gene that results in enhanced response of erythroid progenitors to physiologic or low levels of erythropoietin. Polycythemia vera is also considered to be a primary erythrocytosis because it is due to a defect in the JAK2 gene within erythroid progenitor cells resulting in constitutive intracellular signaling and clonal proliferation. In contrast, secondary erythrocytosis is driven by hormonal factors extrinsic to the erythroid compartment, such as hypoxia due to lung disease or increased EPO from an EPO-secreting tumor (<a href="#17" class="mim-tip-reference" title="Prchal, J. T. &lt;strong&gt;Polycythemia vera and other primary polycythemias.&lt;/strong&gt; Curr. Opin. Hemat. 12: 112-116, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15725900/&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;15725900&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/01.moh.0000154029.05396.d2&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="15725900">Prchal, 2005</a>; <a href="#4" class="mim-tip-reference" title="Cario, H. &lt;strong&gt;Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.&lt;/strong&gt; Ann. Hemat. 84: 137-145, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15599750/&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;15599750&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00277-004-0985-1&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="15599750">Cario, 2005</a>; <a href="#12" class="mim-tip-reference" title="Gregg, X. T., Prchal, J. T. &lt;strong&gt;Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.&lt;/strong&gt; Curr. Hemat. Rep. 4: 238-242, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15865879/&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;15865879&lt;/a&gt;]" pmid="15865879">Gregg and Prchal, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15725900+15865879+15599750" 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="#11" class="mim-tip-reference" title="Engelking, E. &lt;strong&gt;Ueber familiaere Polyzythaemie und die dabei beobachteten Augenveraenderungen.&lt;/strong&gt; Klin. Monatsbl. Augenheilkd. 64: 645-664, 1920."None>Engelking (1920)</a> and <a href="#21" class="mim-tip-reference" title="Wieland, W. &lt;strong&gt;Weitere Untersuchungen ueber Polycythaemia vera im Kindesalter.&lt;/strong&gt; Z. Kinderheilk. 53: 703-715, 1932."None>Wieland (1932)</a> separately reported a family in which 11 members of 3 generations had erythrocytosis. In some, the abnormality was noted in childhood. A patient reported by <a href="#2" class="mim-tip-reference" title="Auerback, M. L., Wolff, J. A., Mettier, S. R. &lt;strong&gt;Benign familial polycythemia in childhood.&lt;/strong&gt; Pediatrics 21: 54-58, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13494077/&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;13494077&lt;/a&gt;]" pmid="13494077">Auerback et al. (1958)</a> was again reported by <a href="#5" class="mim-tip-reference" title="Cassileth, P. A., Hyman, G. A. &lt;strong&gt;Benign familial erythrocytosis: report of three cases and a review of the literature.&lt;/strong&gt; Am. J. Med. Sci. 251: 692-697, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5946371/&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;5946371&lt;/a&gt;]" pmid="5946371">Cassileth and Hyman (1966)</a> with family study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13494077+5946371" 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="#16" class="mim-tip-reference" title="Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F. &lt;strong&gt;Autosomal dominant polycythemia.&lt;/strong&gt; Blood 66: 1208-1214, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4052634/&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;4052634&lt;/a&gt;]" pmid="4052634">Prchal et al. (1985)</a> reported a family with autosomal dominant inheritance of erythrocytosis. Affected members had increased serum red blood cell mass, increased hemoglobin, and decreased EPO levels. Arterial oxygen levels and blood oxygen affinity were normal. In vitro erythroid colony forming units showed significantly increased stimulation by low levels of EPO. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4052634" 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="Queisser, W., Heim, M. E., Schmitz, J. M., Worst, P. &lt;strong&gt;Idiopathische familiaere Polyglobulie: Beobachtung einer Familie mit autosomal dominantem Erbgang.&lt;/strong&gt; Dtsch. Med. Wochenschr. 113: 851-856, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3371213/&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;3371213&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1067733&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="3371213">Queisser et al. (1988)</a> described erythrocytosis in 7 members of a family in 4 generations with male-to-male transmission. The propositus was first diagnosed at age 26 years. He had headaches and marked plethora. Erythropoietin levels were not elevated. The disorder was characterized in middle age in other members of the family by hypertension, cardiovascular and thromboembolic phenomena, and abnormal bleeding. The proband was treated successfully with repeated venous phlebotomies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3371213" 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="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. &lt;strong&gt;Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.&lt;/strong&gt; Blood 78: 3066-3069, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1954391/&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;1954391&lt;/a&gt;]" pmid="1954391">Juvonen et al. (1991)</a> reported a large Finnish family with autosomal dominant erythrocytosis. In vitro studies showed hypersensitivity of erythroid progenitors to EPO. The erythrocytosis had not had any obvious effect on the health or life span of the affected individuals. In fact, many reached an advanced age and 1 won several Olympic gold medals and world championships in endurance sports. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1954391" 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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<p>In the large Finnish kindred with familial erythrocytosis reported by <a href="#13" class="mim-tip-reference" title="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. &lt;strong&gt;Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.&lt;/strong&gt; Blood 78: 3066-3069, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1954391/&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;1954391&lt;/a&gt;]" pmid="1954391">Juvonen et al. (1991)</a>, <a href="#8" class="mim-tip-reference" title="de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E. &lt;strong&gt;Familial erythrocytosis genetically linked to erythropoietin receptor gene.&lt;/strong&gt; Lancet 341: 82-84, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8093406/&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;8093406&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)92558-b&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="8093406">de la Chapelle et al. (1993)</a> demonstrated linkage to a highly informative, simple sequence repeat (SSR) polymorphism in the 5-prime region of the EPOR gene (lod score of 6.37). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8093406+1954391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of ECYT1 in the family reported by <a href="#13" class="mim-tip-reference" title="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. &lt;strong&gt;Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.&lt;/strong&gt; Blood 78: 3066-3069, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1954391/&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;1954391&lt;/a&gt;]" pmid="1954391">Juvonen et al. (1991)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1954391" 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>Molecular Genetics</strong>
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<p>In all 29 affected members of a large Finnish family with autosomal dominant erythrocytosis reported by <a href="#13" class="mim-tip-reference" title="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. &lt;strong&gt;Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.&lt;/strong&gt; Blood 78: 3066-3069, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1954391/&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;1954391&lt;/a&gt;]" pmid="1954391">Juvonen et al. (1991)</a>, <a href="#8" class="mim-tip-reference" title="de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E. &lt;strong&gt;Familial erythrocytosis genetically linked to erythropoietin receptor gene.&lt;/strong&gt; Lancet 341: 82-84, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8093406/&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;8093406&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)92558-b&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="8093406">de la Chapelle et al. (1993)</a> identified a heterozygous mutation in the EPOR gene (<a href="/entry/133171#0001">133171.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8093406+1954391" 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 2 unrelated families with autosomal dominant erythrocytosis, <a href="#14" class="mim-tip-reference" title="Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T. &lt;strong&gt;Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.&lt;/strong&gt; Blood 90: 2057-2061, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9292543/&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;9292543&lt;/a&gt;]" pmid="9292543">Kralovics et al. (1997)</a> identified 2 different heterozygous mutations in the EPOR gene (<a href="/entry/133171#0004">133171.0004</a>; <a href="/entry/133171#0005">133171.0005</a>). The authors noted that most of the described EPOR mutations (6 of 8) associated with polycythemia resulted in an absence of the C-terminal negative regulatory domain of the receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292543" 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 3 affected members of a family with familial erythrocytosis originally reported by <a href="#16" class="mim-tip-reference" title="Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F. &lt;strong&gt;Autosomal dominant polycythemia.&lt;/strong&gt; Blood 66: 1208-1214, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4052634/&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;4052634&lt;/a&gt;]" pmid="4052634">Prchal et al. (1985)</a>, <a href="#15" class="mim-tip-reference" title="Kralovics, R., Sokol, L., Prchal, J. T. &lt;strong&gt;Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.&lt;/strong&gt; J. Clin. Invest. 102: 124-129, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9649565/&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;9649565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI2886&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="9649565">Kralovics et al. (1998)</a> identified a heterozygous mutation in the EPOR gene (<a href="/entry/133171#0006">133171.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9649565+4052634" 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="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p><a href="#7" class="mim-tip-reference" title="Dainiak, N., Hoffman, R., Lebowitz, A. I., Solomon, L., Maffei, L., Ritchey, K. &lt;strong&gt;Erythropoietin-dependent primary pure erythrocytosis.&lt;/strong&gt; Blood 53: 1076-1084, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/444659/&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;444659&lt;/a&gt;]" pmid="444659">Dainiak et al. (1979)</a>, <a href="#22" class="mim-tip-reference" title="Yonemitsu, H., Yamaguchi, K., Shigeta, H., Okuda, K., Takaku, F. &lt;strong&gt;Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.&lt;/strong&gt; Blood 42: 793-797, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4746102/&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;4746102&lt;/a&gt;]" pmid="4746102">Yonemitsu et al. (1973)</a>, and <a href="#9" class="mim-tip-reference" title="Distelhorst, C. W., Wagner, D. S., Goldwasser, E., Adamson, J. W. &lt;strong&gt;Autosomal dominant familial erythrocytosis due to autonomous erythropoietin production.&lt;/strong&gt; Blood 58: 1155-1158, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7306703/&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;7306703&lt;/a&gt;]" pmid="7306703">Distelhorst et al. (1981)</a> attributed familial erythrocytosis to increased autonomous erythropoietin production. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=444659+4746102+7306703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Emanuel, P. D., Eaves, C. J., Broudy, V. C., Papayannopoulou, T., Moore, M. R., D&#x27;Andrea, A. D., Prchal, J. F., Eaves, A. C., Prchal, J. T. &lt;strong&gt;Familial and congenital polycythemia in three unrelated families.&lt;/strong&gt; Blood 79: 3019-3030, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1316790/&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;1316790&lt;/a&gt;]" pmid="1316790">Emanuel et al. (1992)</a> reported studies of 3 extensively affected families with familial and congenital erythrocytosis. Although 13 affected individuals were identified in 4 generations in 1 family, there was no instance of male-to-male transmission; in the second family, however, there were 2 such instances. Another patient was an isolated case. In all 3 families, secondary causes of erythrocytosis were ruled out. Erythropoietin levels were normal or low, even after phlebotomy. No evidence of rearrangement or amplification of the EPOR gene could be demonstrated. Functional studies examining the number and binding affinity of the EPO receptor on erythroid progenitors from 3 of their patients demonstrated no abnormalities. <a href="#10" class="mim-tip-reference" title="Emanuel, P. D., Eaves, C. J., Broudy, V. C., Papayannopoulou, T., Moore, M. R., D&#x27;Andrea, A. D., Prchal, J. F., Eaves, A. C., Prchal, J. T. &lt;strong&gt;Familial and congenital polycythemia in three unrelated families.&lt;/strong&gt; Blood 79: 3019-3030, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1316790/&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;1316790&lt;/a&gt;]" pmid="1316790">Emanuel et al. (1992)</a> suggested that the erythrocytosis in these families may not involve the EPOR itself, but may have resulted from alterations in postreceptor responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1316790" 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>
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<a href="#Adamson1975" class="mim-tip-reference" title="Adamson, J. W. &lt;strong&gt;Familial polycythemia.&lt;/strong&gt; Semin. Hemat. 12: 383-396, 1975.">Adamson (1975)</a>; <a href="#Charache1970" class="mim-tip-reference" title="Charache, S. &lt;strong&gt;Familial polycythemia.&lt;/strong&gt; Mt. Sinai J. Med. 37: 418-425, 1970.">Charache (1970)</a>; <a href="#Spodaro1933" class="mim-tip-reference" title="Spodaro, A., Forkner, C. E. &lt;strong&gt;Benign familial polycythemia.&lt;/strong&gt; Arch. Intern. Med. 52: 593-602, 1933.">Spodaro and Forkner (1933)</a>
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<a id="references"class="mim-anchor"></a>
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<a id="1" class="mim-anchor"></a>
<a id="Adamson1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Adamson, J. W.
<strong>Familial polycythemia.</strong>
Semin. Hemat. 12: 383-396, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1105792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1105792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1105792" 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="Auerback1958" class="mim-anchor"></a>
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<p class="mim-text-font">
Auerback, M. L., Wolff, J. A., Mettier, S. R.
<strong>Benign familial polycythemia in childhood.</strong>
Pediatrics 21: 54-58, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13494077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13494077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13494077" 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="3" class="mim-anchor"></a>
<a id="Bento2014" class="mim-anchor"></a>
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Bento, C., Percy, M. J., Gardie, B., Magalhaes Maia, T., van Wijk, R., Perrotta, S., Della Ragione F., Almeida, H., Rossi, C., Girodon, F., Astrom, M., Neumann, D., and 12 others.
<strong>Genetic basis of congenital erythrocytosis: mutation update and online databases.</strong>
Hum. Mutat. 35: 15-26, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24115288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24115288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24115288" 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.22448" target="_blank">Full Text</a>]
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<a id="Cario2005" class="mim-anchor"></a>
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Cario, H.
<strong>Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.</strong>
Ann. Hemat. 84: 137-145, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15599750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15599750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15599750" 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/s00277-004-0985-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Cassileth1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cassileth, P. A., Hyman, G. A.
<strong>Benign familial erythrocytosis: report of three cases and a review of the literature.</strong>
Am. J. Med. Sci. 251: 692-697, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5946371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5946371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5946371" 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="6" class="mim-anchor"></a>
<a id="Charache1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Charache, S.
<strong>Familial polycythemia.</strong>
Mt. Sinai J. Med. 37: 418-425, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5311164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5311164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5311164" 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="7" class="mim-anchor"></a>
<a id="Dainiak1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dainiak, N., Hoffman, R., Lebowitz, A. I., Solomon, L., Maffei, L., Ritchey, K.
<strong>Erythropoietin-dependent primary pure erythrocytosis.</strong>
Blood 53: 1076-1084, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444659" 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="8" class="mim-anchor"></a>
<a id="de la Chapelle1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E.
<strong>Familial erythrocytosis genetically linked to erythropoietin receptor gene.</strong>
Lancet 341: 82-84, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8093406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8093406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8093406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0140-6736(93)92558-b" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Distelhorst1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Distelhorst, C. W., Wagner, D. S., Goldwasser, E., Adamson, J. W.
<strong>Autosomal dominant familial erythrocytosis due to autonomous erythropoietin production.</strong>
Blood 58: 1155-1158, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7306703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7306703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7306703" 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="10" class="mim-anchor"></a>
<a id="Emanuel1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Emanuel, P. D., Eaves, C. J., Broudy, V. C., Papayannopoulou, T., Moore, M. R., D'Andrea, A. D., Prchal, J. F., Eaves, A. C., Prchal, J. T.
<strong>Familial and congenital polycythemia in three unrelated families.</strong>
Blood 79: 3019-3030, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1316790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1316790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1316790" 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="11" class="mim-anchor"></a>
<a id="Engelking1920" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Engelking, E.
<strong>Ueber familiaere Polyzythaemie und die dabei beobachteten Augenveraenderungen.</strong>
Klin. Monatsbl. Augenheilkd. 64: 645-664, 1920.
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Gregg2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gregg, X. T., Prchal, J. T.
<strong>Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.</strong>
Curr. Hemat. Rep. 4: 238-242, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15865879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15865879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15865879" 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="13" class="mim-anchor"></a>
<a id="Juvonen1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T.
<strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong>
Blood 78: 3066-3069, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1954391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1954391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1954391" 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="14" class="mim-anchor"></a>
<a id="Kralovics1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T.
<strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong>
Blood 90: 2057-2061, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292543" 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="15" class="mim-anchor"></a>
<a id="Kralovics1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kralovics, R., Sokol, L., Prchal, J. T.
<strong>Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.</strong>
J. Clin. Invest. 102: 124-129, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9649565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9649565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9649565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI2886" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Prchal1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F.
<strong>Autosomal dominant polycythemia.</strong>
Blood 66: 1208-1214, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4052634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4052634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4052634" 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="17" class="mim-anchor"></a>
<a id="Prchal2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Prchal, J. T.
<strong>Polycythemia vera and other primary polycythemias.</strong>
Curr. Opin. Hemat. 12: 112-116, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15725900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15725900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15725900" 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.moh.0000154029.05396.d2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Queisser1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Queisser, W., Heim, M. E., Schmitz, J. M., Worst, P.
<strong>Idiopathische familiaere Polyglobulie: Beobachtung einer Familie mit autosomal dominantem Erbgang.</strong>
Dtsch. Med. Wochenschr. 113: 851-856, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3371213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3371213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3371213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2008-1067733" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Spodaro1933" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spodaro, A., Forkner, C. E.
<strong>Benign familial polycythemia.</strong>
Arch. Intern. Med. 52: 593-602, 1933.
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Stamatoyannopoulos1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stamatoyannopoulos, G.
<strong>Familial erythrocytosis.</strong>
Birth Defects Orig. Art. Ser. 8(3): 39-45, 1972.
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Wieland1932" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wieland, W.
<strong>Weitere Untersuchungen ueber Polycythaemia vera im Kindesalter.</strong>
Z. Kinderheilk. 53: 703-715, 1932.
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Yonemitsu1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yonemitsu, H., Yamaguchi, K., Shigeta, H., Okuda, K., Takaku, F.
<strong>Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.</strong>
Blood 42: 793-797, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4746102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4746102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4746102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
</ol>
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<div>
<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Carol A. Bocchini - updated : 04/14/2014
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - reorganized : 5/24/2006<br>Victor A. McKusick - updated : 3/29/2006
</span>
</div>
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<div>
<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 11/03/2023
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<span class="mim-text-font">
carol : 02/22/2022<br>carol : 01/22/2019<br>carol : 09/05/2018<br>carol : 06/18/2018<br>carol : 06/15/2018<br>carol : 05/14/2018<br>alopez : 03/16/2018<br>ckniffin : 03/15/2018<br>carol : 04/14/2014<br>terry : 7/20/2011<br>terry : 7/20/2011<br>carol : 7/12/2011<br>carol : 4/13/2011<br>terry : 11/16/2010<br>terry : 12/1/2009<br>carol : 5/24/2006<br>carol : 5/24/2006<br>ckniffin : 5/23/2006<br>terry : 3/29/2006<br>carol : 4/4/2001<br>mimadm : 9/24/1994<br>warfield : 4/8/1994<br>pfoster : 4/1/1994<br>carol : 10/26/1993<br>carol : 7/22/1993<br>carol : 2/9/1993
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<h3>
<span class="mim-font">
<strong>#</strong> 133100
</span>
</h3>
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<div>
<h3>
<span class="mim-font">
ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
</span>
</h3>
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<div>
<br />
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<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP<br />
ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
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<div>
<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 90042; &nbsp;
<strong>DO:</strong> 0060652; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
9p24.1
</span>
</td>
<td>
<span class="mim-font">
Erythrocytosis, somatic
</span>
</td>
<td>
<span class="mim-font">
133100
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
JAK2
</span>
</td>
<td>
<span class="mim-font">
147796
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
12q24.12
</span>
</td>
<td>
<span class="mim-font">
Erythrocytosis, somatic
</span>
</td>
<td>
<span class="mim-font">
133100
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SH2B3
</span>
</td>
<td>
<span class="mim-font">
605093
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
19p13.2
</span>
</td>
<td>
<span class="mim-font">
[Erythrocytosis, familial, 1]
</span>
</td>
<td>
<span class="mim-font">
133100
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
EPOR
</span>
</td>
<td>
<span class="mim-font">
133171
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because familial erythrocytosis-1 (ECYT1) is caused by heterozygous mutation in the gene encoding the erythropoietin receptor (EPOR; 133171) on chromosome 19p13.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (133170), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). </p><p><strong><em>Genetic Heterogeneity of Familial Erythrocytosis</em></strong></p><p>
See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p21; ECYT5 (617907), caused by mutation in the EPO gene (133170) on chromosome 7q22; ECYT6 (617980), caused by mutation in the HBB gene (141900) on chromosome 11q15; ECYT7 (617981), caused by mutation in the HBA genes (141800; 141850) on chromosome 16p13; and ECYT8 (222800), caused by mutation in the BPGM gene (613896) on chromosome 7q33.</p><p>Stamatoyannopoulos (1972) reviewed causes of familial erythrocytosis and noted that the disorder may result from defects in the regulation of 2,3-diphosphoglycerate (see 613896 and 222800).</p><p>Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively.</p><p>For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014). </p>
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<h4>
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<strong>Nomenclature</strong>
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<p>The term 'polycythemia' (Greek: 'many cells in the blood') is used interchangeably with 'erythrocytosis,' although the latter term more specifically refers to an increase in the number of circulating differentiated red blood cells (Prchal, 2005; Cario, 2005). 'Erythrocytosis' is the preferred term used here in order to distinguish inherited disorders characterized by increased circulating red blood cells from 'polycythemia vera' (PV; 263300), which is a myeloproliferative disorder associated with somatic mutations in the JAK2 gene (147796). Familial erythrocytosis is also distinct from erythroleukemia (133180), which is considered to be a subtype of acute myelogenous leukemia (AML; 601626) characterized by immature erythroid cells in the bone marrow and peripheral blood. </p><p>Erythrocytosis can be classified as primary or secondary. Primary erythrocytosis is due to an intrinsic inherited or somatic defect in erythroid progenitor cells resulting in an enhanced response to circulating cytokines. In primary erythrocytosis, the red cell compartment expands independently of extrinsic influences. Familial erythrocytosis-1 is a primary erythrocytosis due to a defect in the EPOR gene that results in enhanced response of erythroid progenitors to physiologic or low levels of erythropoietin. Polycythemia vera is also considered to be a primary erythrocytosis because it is due to a defect in the JAK2 gene within erythroid progenitor cells resulting in constitutive intracellular signaling and clonal proliferation. In contrast, secondary erythrocytosis is driven by hormonal factors extrinsic to the erythroid compartment, such as hypoxia due to lung disease or increased EPO from an EPO-secreting tumor (Prchal, 2005; Cario, 2005; Gregg and Prchal, 2005). </p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
<p>Engelking (1920) and Wieland (1932) separately reported a family in which 11 members of 3 generations had erythrocytosis. In some, the abnormality was noted in childhood. A patient reported by Auerback et al. (1958) was again reported by Cassileth and Hyman (1966) with family study. </p><p>Prchal et al. (1985) reported a family with autosomal dominant inheritance of erythrocytosis. Affected members had increased serum red blood cell mass, increased hemoglobin, and decreased EPO levels. Arterial oxygen levels and blood oxygen affinity were normal. In vitro erythroid colony forming units showed significantly increased stimulation by low levels of EPO. </p><p>Queisser et al. (1988) described erythrocytosis in 7 members of a family in 4 generations with male-to-male transmission. The propositus was first diagnosed at age 26 years. He had headaches and marked plethora. Erythropoietin levels were not elevated. The disorder was characterized in middle age in other members of the family by hypertension, cardiovascular and thromboembolic phenomena, and abnormal bleeding. The proband was treated successfully with repeated venous phlebotomies. </p><p>Juvonen et al. (1991) reported a large Finnish family with autosomal dominant erythrocytosis. In vitro studies showed hypersensitivity of erythroid progenitors to EPO. The erythrocytosis had not had any obvious effect on the health or life span of the affected individuals. In fact, many reached an advanced age and 1 won several Olympic gold medals and world championships in endurance sports. </p>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
</div>
<span class="mim-text-font">
<p>In the large Finnish kindred with familial erythrocytosis reported by Juvonen et al. (1991), de la Chapelle et al. (1993) demonstrated linkage to a highly informative, simple sequence repeat (SSR) polymorphism in the 5-prime region of the EPOR gene (lod score of 6.37). </p>
</span>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>The transmission pattern of ECYT1 in the family reported by Juvonen et al. (1991) was consistent with autosomal dominant inheritance. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In all 29 affected members of a large Finnish family with autosomal dominant erythrocytosis reported by Juvonen et al. (1991), de la Chapelle et al. (1993) identified a heterozygous mutation in the EPOR gene (133171.0001). </p><p>In 2 unrelated families with autosomal dominant erythrocytosis, Kralovics et al. (1997) identified 2 different heterozygous mutations in the EPOR gene (133171.0004; 133171.0005). The authors noted that most of the described EPOR mutations (6 of 8) associated with polycythemia resulted in an absence of the C-terminal negative regulatory domain of the receptor. </p><p>In 3 affected members of a family with familial erythrocytosis originally reported by Prchal et al. (1985), Kralovics et al. (1998) identified a heterozygous mutation in the EPOR gene (133171.0006). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Dainiak et al. (1979), Yonemitsu et al. (1973), and Distelhorst et al. (1981) attributed familial erythrocytosis to increased autonomous erythropoietin production. </p><p>Emanuel et al. (1992) reported studies of 3 extensively affected families with familial and congenital erythrocytosis. Although 13 affected individuals were identified in 4 generations in 1 family, there was no instance of male-to-male transmission; in the second family, however, there were 2 such instances. Another patient was an isolated case. In all 3 families, secondary causes of erythrocytosis were ruled out. Erythropoietin levels were normal or low, even after phlebotomy. No evidence of rearrangement or amplification of the EPOR gene could be demonstrated. Functional studies examining the number and binding affinity of the EPO receptor on erythroid progenitors from 3 of their patients demonstrated no abnormalities. Emanuel et al. (1992) suggested that the erythrocytosis in these families may not involve the EPOR itself, but may have resulted from alterations in postreceptor responses. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Adamson (1975); Charache (1970); Spodaro and Forkner (1933)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Adamson, J. W.
<strong>Familial polycythemia.</strong>
Semin. Hemat. 12: 383-396, 1975.
[PubMed: 1105792]
</p>
</li>
<li>
<p class="mim-text-font">
Auerback, M. L., Wolff, J. A., Mettier, S. R.
<strong>Benign familial polycythemia in childhood.</strong>
Pediatrics 21: 54-58, 1958.
[PubMed: 13494077]
</p>
</li>
<li>
<p class="mim-text-font">
Bento, C., Percy, M. J., Gardie, B., Magalhaes Maia, T., van Wijk, R., Perrotta, S., Della Ragione F., Almeida, H., Rossi, C., Girodon, F., Astrom, M., Neumann, D., and 12 others.
<strong>Genetic basis of congenital erythrocytosis: mutation update and online databases.</strong>
Hum. Mutat. 35: 15-26, 2014.
[PubMed: 24115288]
[Full Text: https://doi.org/10.1002/humu.22448]
</p>
</li>
<li>
<p class="mim-text-font">
Cario, H.
<strong>Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.</strong>
Ann. Hemat. 84: 137-145, 2005.
[PubMed: 15599750]
[Full Text: https://doi.org/10.1007/s00277-004-0985-1]
</p>
</li>
<li>
<p class="mim-text-font">
Cassileth, P. A., Hyman, G. A.
<strong>Benign familial erythrocytosis: report of three cases and a review of the literature.</strong>
Am. J. Med. Sci. 251: 692-697, 1966.
[PubMed: 5946371]
</p>
</li>
<li>
<p class="mim-text-font">
Charache, S.
<strong>Familial polycythemia.</strong>
Mt. Sinai J. Med. 37: 418-425, 1970.
[PubMed: 5311164]
</p>
</li>
<li>
<p class="mim-text-font">
Dainiak, N., Hoffman, R., Lebowitz, A. I., Solomon, L., Maffei, L., Ritchey, K.
<strong>Erythropoietin-dependent primary pure erythrocytosis.</strong>
Blood 53: 1076-1084, 1979.
[PubMed: 444659]
</p>
</li>
<li>
<p class="mim-text-font">
de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E.
<strong>Familial erythrocytosis genetically linked to erythropoietin receptor gene.</strong>
Lancet 341: 82-84, 1993.
[PubMed: 8093406]
[Full Text: https://doi.org/10.1016/0140-6736(93)92558-b]
</p>
</li>
<li>
<p class="mim-text-font">
Distelhorst, C. W., Wagner, D. S., Goldwasser, E., Adamson, J. W.
<strong>Autosomal dominant familial erythrocytosis due to autonomous erythropoietin production.</strong>
Blood 58: 1155-1158, 1981.
[PubMed: 7306703]
</p>
</li>
<li>
<p class="mim-text-font">
Emanuel, P. D., Eaves, C. J., Broudy, V. C., Papayannopoulou, T., Moore, M. R., D'Andrea, A. D., Prchal, J. F., Eaves, A. C., Prchal, J. T.
<strong>Familial and congenital polycythemia in three unrelated families.</strong>
Blood 79: 3019-3030, 1992.
[PubMed: 1316790]
</p>
</li>
<li>
<p class="mim-text-font">
Engelking, E.
<strong>Ueber familiaere Polyzythaemie und die dabei beobachteten Augenveraenderungen.</strong>
Klin. Monatsbl. Augenheilkd. 64: 645-664, 1920.
</p>
</li>
<li>
<p class="mim-text-font">
Gregg, X. T., Prchal, J. T.
<strong>Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.</strong>
Curr. Hemat. Rep. 4: 238-242, 2005.
[PubMed: 15865879]
</p>
</li>
<li>
<p class="mim-text-font">
Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T.
<strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong>
Blood 78: 3066-3069, 1991.
[PubMed: 1954391]
</p>
</li>
<li>
<p class="mim-text-font">
Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T.
<strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong>
Blood 90: 2057-2061, 1997.
[PubMed: 9292543]
</p>
</li>
<li>
<p class="mim-text-font">
Kralovics, R., Sokol, L., Prchal, J. T.
<strong>Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.</strong>
J. Clin. Invest. 102: 124-129, 1998.
[PubMed: 9649565]
[Full Text: https://doi.org/10.1172/JCI2886]
</p>
</li>
<li>
<p class="mim-text-font">
Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F.
<strong>Autosomal dominant polycythemia.</strong>
Blood 66: 1208-1214, 1985.
[PubMed: 4052634]
</p>
</li>
<li>
<p class="mim-text-font">
Prchal, J. T.
<strong>Polycythemia vera and other primary polycythemias.</strong>
Curr. Opin. Hemat. 12: 112-116, 2005.
[PubMed: 15725900]
[Full Text: https://doi.org/10.1097/01.moh.0000154029.05396.d2]
</p>
</li>
<li>
<p class="mim-text-font">
Queisser, W., Heim, M. E., Schmitz, J. M., Worst, P.
<strong>Idiopathische familiaere Polyglobulie: Beobachtung einer Familie mit autosomal dominantem Erbgang.</strong>
Dtsch. Med. Wochenschr. 113: 851-856, 1988.
[PubMed: 3371213]
[Full Text: https://doi.org/10.1055/s-2008-1067733]
</p>
</li>
<li>
<p class="mim-text-font">
Spodaro, A., Forkner, C. E.
<strong>Benign familial polycythemia.</strong>
Arch. Intern. Med. 52: 593-602, 1933.
</p>
</li>
<li>
<p class="mim-text-font">
Stamatoyannopoulos, G.
<strong>Familial erythrocytosis.</strong>
Birth Defects Orig. Art. Ser. 8(3): 39-45, 1972.
</p>
</li>
<li>
<p class="mim-text-font">
Wieland, W.
<strong>Weitere Untersuchungen ueber Polycythaemia vera im Kindesalter.</strong>
Z. Kinderheilk. 53: 703-715, 1932.
</p>
</li>
<li>
<p class="mim-text-font">
Yonemitsu, H., Yamaguchi, K., Shigeta, H., Okuda, K., Takaku, F.
<strong>Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.</strong>
Blood 42: 793-797, 1973.
[PubMed: 4746102]
</p>
</li>
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Carol A. Bocchini - updated : 04/14/2014<br>Cassandra L. Kniffin - reorganized : 5/24/2006<br>Victor A. McKusick - updated : 3/29/2006
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