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<title>
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Entry
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- #105600 - ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa; CDAN3A
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- OMIM
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<span class="h4">#105600</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS224120"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa) OR (KIF23)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3565&Typ=Pat" title="Congenital dyserythropoietic anemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital dyserythropoiet… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13887&Typ=Pat" title="Congenital dyserythropoietic anemia type III" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital dyserythropoiet… </a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=105600[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85" title="Congenital dyserythropoietic anemia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital dyserythropoiet…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98870" title="Congenital dyserythropoietic anemia type III" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital dyserythropoiet…</a></div>
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<div><a href="http://www.informatics.jax.org/disease/105600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111399" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 26409005<br />
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<strong>ORPHA:</strong> 85, 98870<br />
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<strong>DO:</strong> 0111399<br />
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|
|
|
">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>
|
|
105600
|
|
</span>
|
|
</span>
|
|
</div>
|
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</div>
|
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|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa; CDAN3A
|
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|
|
</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">
|
|
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIA<br />
|
|
CDA, TYPE IIIA<br />
|
|
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III; CDAN3<br />
|
|
CDA, TYPE III<br />
|
|
ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS<br />
|
|
ERYTHRORETICULOSIS, HEREDITARY BENIGN
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<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/15/336?start=-3&limit=10&highlight=336">
|
|
15q23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Anemia, congenital dyserythropoietic, type IIIA
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105600"> 105600 </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">
|
|
KIF23
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605064"> 605064 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/105600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS224120" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/105600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/105600" 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>
|
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|
|
|
<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>
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Congenital dyserythropoietic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52951008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52951008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002876&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002876</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004810</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004810</a>]</span><br /> -
|
|
Anemia, macrocytic, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677877</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83414005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83414005</a>]</span><br /> -
|
|
Erythroid hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012132</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012132" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012132</a>]</span><br /> -
|
|
Intravascular hemolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15601008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15601008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235574</a>]</span><br /> -
|
|
Ineffective erythropoiesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70730006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70730006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010972</a>]</span><br /> -
|
|
Anisocytosis seen on blood smear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677878</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165475005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57241006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57241006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71.8</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011273</a>]</span><br /> -
|
|
Poikilocytosis seen on blood smear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677879</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165479004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165479004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71.8</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004447</a>]</span><br /> -
|
|
Multinucleated erythroblasts on bone marrow biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677880</a>]</span><br /> -
|
|
Red cell nuclear abnormalities seen on bone marrow biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677881&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677881</a>]</span><br /> -
|
|
Irregular distribution of red cell nuclear chromatin seen on electron microscopy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677882</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
|
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased thymidine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677875&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677875</a>]</span><br /> -
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|
Increased lactate dehydrogenase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151754</a>]</span><br /> -
|
|
Absent haptoglobin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5677876&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5677876</a>]</span><br /> -
|
|
Hyperbilirubinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14783006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14783006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26165005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26165005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020433</a>, <a href="https://bioportal.bioontology.org/search?q=C0311468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood<br /> -
|
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Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Some affected individuals may be asymptomatic<br />
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</span>
|
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</div>
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|
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the kinesin family member 23 gene (KIF23, <a href="/entry/605064#0001">605064.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Anemia, congenital dyserythropoietic
|
|
- <a href="/phenotypicSeries/PS224120">PS224120</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<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>
|
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</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/12/368?start=-3&limit=10&highlight=368"> 12q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619789"> Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619789"> 619789 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604980"> RACGAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604980"> 604980 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/81?start=-3&limit=10&highlight=81"> 15q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615631"> Dyserythropoietic anemia, congenital, type Ib </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/615631"> 615631 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615626"> CDIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615626"> 615626 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/138?start=-3&limit=10&highlight=138"> 15q15.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224120"> Dyserythropoietic anemia, congenital, type Ia </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/224120"> 224120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607465"> CDAN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607465"> 607465 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/336?start=-3&limit=10&highlight=336"> 15q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105600"> Anemia, congenital dyserythropoietic, type IIIA </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/105600"> 105600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605064"> KIF23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605064"> 605064 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/341?start=-3&limit=10&highlight=341"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613673"> Anemia, dyserythropoietic congenital, type IVa </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/613673"> 613673 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600599"> KLF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600599"> 600599 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/341?start=-3&limit=10&highlight=341"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620969"> Anemia, congenital dyserythropoietic, type IVb </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/620969"> 620969 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600599"> KLF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600599"> 600599 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/126?start=-3&limit=10&highlight=126"> 20p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224100"> Dyserythropoietic anemia, congenital, type II </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/224100"> 224100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610512"> SEC23B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610512"> 610512 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that congenital dyserythropoietic anemia type IIIa (CDAN3A) is caused by heterozygous mutation in the KIF23 gene (<a href="/entry/605064">605064</a>) on chromosome 15q23.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<p>Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by <a href="#8" class="mim-tip-reference" title="Lind, L., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson-Sojka, B., Sikstrom, C., Holmgren, G. <strong>Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.</strong> Hum. Molec. Genet. 4: 109-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711721</a>] [<a href="https://doi.org/10.1093/hmg/4.1.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711721">Lind et al., 1995</a>; <a href="#7" class="mim-tip-reference" title="Liljeholm, M., Irvine, A. F., Vikberg, A.-L., Norberg, A., Month, S., Sandstrom, H., Wahlin, A., Mishima, M., Golovleva, I. <strong>Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.</strong> Blood 121: 4791-4799, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23570799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23570799</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23570799">Liljeholm et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7711721+23570799" 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>For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see <a href="/entry/224120">224120</a>.</p>
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<p>In an American mother and all 3 of her children, <a href="#16" class="mim-tip-reference" title="Wolff, J. A., von Hofe, F. M. <strong>Familial erythroid multinuclearity.</strong> Blood 6: 1274-1283, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14886400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14886400</a>]" pmid="14886400">Wolff and von Hofe (1951)</a> described mild anemia, macrocytosis in the peripheral blood, and giant multinuclear erythroblasts in the bone marrow. They termed the disorder 'familial erythroid multinuclearity.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14886400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson (1962)</a> reported 15 cases in a family from the Vasterbotten area of northern Sweden. They called the disorder 'hereditary benign erythroreticulosis.' An autosomal dominant pattern of inheritance was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13867810" 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="Weatherly, T. L., Flannery, E. P., Doyle, W. F., Shohet, S. B., Garratty, G. <strong>Congenital dyserythropoietic anemia (CDA) with increased red cell lipids.</strong> Am. J. Med. 57: 912-919, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4432872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4432872</a>] [<a href="https://doi.org/10.1016/0002-9343(74)90169-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4432872">Weatherly et al. (1974)</a> described a form of congenital dyserythropoietic anemia in a Filipino mother and 2 of her daughters. There were no serologic abnormalities and the proband's red cells showed a lipid abnormality not previously described in CDA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4432872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bjorksten, B., Holmgren, G., Roos, G., Stenling, R. <strong>Congenital dyserythropoietic anaemia type III: an electron microscopic study.</strong> Brit. J. Haemat. 38: 37-42, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/638061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">638061</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1978.tb07106.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="638061">Bjorksten et al. (1978)</a> stated that, including the reports of <a href="#3" class="mim-tip-reference" title="Clauvel, J. P., Cosson, A., Breton-Gorius, J., Flandrin, G., Faille, A., Bonnet-Gajdos, M., Turpin, F., Bernard, J. <strong>Dyserythropoiese congenitale: etude de 6 observations.</strong> Nouv. Rev. Franc. Hemat. 12: 635-672, 1972."None>Clauvel et al. (1972)</a> and <a href="#4" class="mim-tip-reference" title="Goudsmit, R., Beckers, D., De Bruijne, J. I., Engelfriet, C. P., James, J., Morselt, A. F. W., Reynierse, T. <strong>Congenital dyserythropoietic anaemia, type III.</strong> Brit. J. Haemat. 23: 97-105, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5045964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5045964</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1972.tb03463.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5045964">Goudsmit et al. (1972)</a>, only 23 cases of CDA III in 4 families had been reported. <a href="#7" class="mim-tip-reference" title="Liljeholm, M., Irvine, A. F., Vikberg, A.-L., Norberg, A., Month, S., Sandstrom, H., Wahlin, A., Mishima, M., Golovleva, I. <strong>Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.</strong> Blood 121: 4791-4799, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23570799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23570799</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23570799">Liljeholm et al. (2013)</a> stated that the patient reported by <a href="#4" class="mim-tip-reference" title="Goudsmit, R., Beckers, D., De Bruijne, J. I., Engelfriet, C. P., James, J., Morselt, A. F. W., Reynierse, T. <strong>Congenital dyserythropoietic anaemia, type III.</strong> Brit. J. Haemat. 23: 97-105, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5045964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5045964</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1972.tb03463.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5045964">Goudsmit et al. (1972)</a> may have a had a different condition because the pattern of inheritance was most consistent with an autosomal recessive disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=638061+5045964+23570799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Wickramasinghe, S. N., Parry, T. E., Williams, C., Bond, A. N., Hughes, M., Crook, S. <strong>A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells.</strong> J. Clin. Path. 35: 1103-1109, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6182166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6182166</a>] [<a href="https://doi.org/10.1136/jcp.35.10.1103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6182166">Wickramasinghe et al. (1982)</a> reported an asymptomatic 19-year-old man from the British Isles with CDA III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6182166" 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>Some electron-microscopic differences from CDA I (<a href="/entry/224120">224120</a>) were reported by <a href="#2" class="mim-tip-reference" title="Bjorksten, B., Holmgren, G., Roos, G., Stenling, R. <strong>Congenital dyserythropoietic anaemia type III: an electron microscopic study.</strong> Brit. J. Haemat. 38: 37-42, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/638061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">638061</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1978.tb07106.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="638061">Bjorksten et al. (1978)</a>, who studied a mother and daughter from the kindred reported by <a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson (1962)</a>. <a href="#5" class="mim-tip-reference" title="Holmgren, G. <strong>Personal Communication.</strong> Umea, Sweden 1/15/1985."None>Holmgren (1985)</a> stated that 17 cases had been identified in this family, all living in northern Sweden. In a study of 2 affected members of this family, <a href="#15" class="mim-tip-reference" title="Wickramasinghe, S. N., Wahlin, A., Anstee, D., Parsons, S. F., Stopps, G., Bergstrom, I., Eriksson, M., Sandstrom, H., Shiels, S. <strong>Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III.</strong> Europ. J. Haemat. 50: 213-221, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8500603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8500603</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1993.tb01923.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8500603">Wickramasinghe et al. (1993)</a> found unusual features: hemosiderinuria, grossly disorganized erythroblast nuclei, differences in the ultrastructural appearance of individual nuclei within the same multinucleate erythroblast, and intraerythroblastic inclusions resembling precipitated globin chains. In both cases, the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28 and 48 times, respectively, the haploid DNA content. They commented that the findings were similar to those that occur in patients with presumed autosomal recessive inheritance of CDA III. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13867810+638061+8500603" 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="#9" class="mim-tip-reference" title="Lind, L., Sikstrom, C., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson, B., Holmgren, G. <strong>The locus for congenital dyserythropoietic anemia type III (CDA III), associated with monoclonal gammopathy and myeloma, is localized on chromosome 15q21. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A1035 only, 1993."None>Lind et al. (1993)</a> pointed out that affected members of the Swedish family originally reported by <a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson (1962)</a> displayed mild to moderate anemia, multinuclear erythroblasts, and elevated levels of serum thymidine kinase. <a href="#8" class="mim-tip-reference" title="Lind, L., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson-Sojka, B., Sikstrom, C., Holmgren, G. <strong>Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.</strong> Hum. Molec. Genet. 4: 109-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711721</a>] [<a href="https://doi.org/10.1093/hmg/4.1.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711721">Lind et al. (1995)</a> further characterized the disorder in this family with known affected members in 5 generations and by inference in a sixth. They found an unusual concurrence of type III CDA with myeloma or benign monoclonal gammopathy. Among 20 CDA III patients examined (<a href="#12" class="mim-tip-reference" title="Sandstrom, H., Wahlin, A., Eriksson, M., Bergstrom, I., Wickramasinghe, S. N. <strong>Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III.</strong> Europ. J. Haemat. 52: 42-46, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8299769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8299769</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1994.tb01283.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8299769">Sandstrom et al., 1994</a>), 1 had multiple myeloma and 3 had monoclonal gammopathy of undetermined significance (MGUS), whereas the healthy relatives did not show any sign of gammopathy. A deceased member of the family had had both CDA III and myeloma, whereas no signs of gammopathy had been recorded among family members not affected by CDA III. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13867810+8299769+7711721" 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="Mendez, M., Moreno-Carralero, M. I., Peri, V. L., Camacho-Galan, R., Bosch-Benitez, J. M., Huerta-Aragones, J., Sanchez-Calero-Guilate, J., Moreno-Risco, M. B., Alonso-Dominguez, J. M., Moran-Jimenez, M. J. <strong>Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.</strong> Ann. Hemat. 100: 353-364, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33159567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33159567</a>] [<a href="https://doi.org/10.1007/s00277-020-04319-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33159567">Mendez et al. (2021)</a> reported a 19-year-old Cuban man (patient 6a) who was diagnosed with Gilbert syndrome due to hyperbilirubinemia at age 14 years. At age 17, he was hospitalized with a hemolytic crisis associated with a febrile illness. Features included mild macrocytic anemia, splenomegaly, and severe erythroid hyperplasia, anisocytosis, and poikilocytosis in a blood smear. Bone marrow aspirate showed large multinucleated erythroblasts; karyorrhexis and basophilic stippling were also observed. Electron microscopy showed irregular distribution of euchromatin and heterochromatin in red cells. He did not require blood transfusion. His mother (patient 6B) was clinically asymptomatic, but had splenomegaly and had undergone cholecystectomy. Her peripheral blood smear showed some abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33159567" 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 CDAN3A in the large Swedish family reported by <a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson (1962)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13867810" 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="#9" class="mim-tip-reference" title="Lind, L., Sikstrom, C., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson, B., Holmgren, G. <strong>The locus for congenital dyserythropoietic anemia type III (CDA III), associated with monoclonal gammopathy and myeloma, is localized on chromosome 15q21. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A1035 only, 1993."None>Lind et al. (1993)</a> performed linkage studies in the large kindred originally reported by <a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson (1962)</a>, which could be traced back to a couple born in northern Sweden in the 19th century. Using microsatellite markers, they found linkage of the disorder to chromosome 15q21, between D15S125 and D15S114. The lod scores were 6.0 or greater with both markers. <a href="#8" class="mim-tip-reference" title="Lind, L., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson-Sojka, B., Sikstrom, C., Holmgren, G. <strong>Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.</strong> Hum. Molec. Genet. 4: 109-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711721</a>] [<a href="https://doi.org/10.1093/hmg/4.1.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711721">Lind et al. (1995)</a> demonstrated close linkage of the CDAN3 locus to microsatellite markers within an 11-cM interval within 15q21-q25. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13867810+7711721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 39 affected members of a Swedish family (<a href="#1" class="mim-tip-reference" title="Bergstrom, I., Jacobsson, L. <strong>Hereditary benign erythroreticulosis.</strong> Blood 19: 296-303, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>]" pmid="13867810">Bergstrom and Jacobsson, 1962</a>) and in 4 affected members of an American family (<a href="#16" class="mim-tip-reference" title="Wolff, J. A., von Hofe, F. M. <strong>Familial erythroid multinuclearity.</strong> Blood 6: 1274-1283, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14886400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14886400</a>]" pmid="14886400">Wolff and von Hofe, 1951</a>) with CDAN3A, <a href="#7" class="mim-tip-reference" title="Liljeholm, M., Irvine, A. F., Vikberg, A.-L., Norberg, A., Month, S., Sandstrom, H., Wahlin, A., Mishima, M., Golovleva, I. <strong>Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.</strong> Blood 121: 4791-4799, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23570799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23570799</a>] [<a href="https://doi.org/10.1182/blood-2012-10-461392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23570799">Liljeholm et al. (2013)</a> identified a heterozygous missense mutation in the KIF23 gene (P916R; <a href="/entry/605064#0001">605064.0001</a>).The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in both families. It was not present in 356 Swedish controls or in the dbSNP database. In vitro functional expression assays showed that the P916R mutant was unable to rescue failed cytokinesis in KIF23-null HeLa cells. Erythrocytes appeared to be most affected by this variant, which explained the presence of multinucleated erythroblasts in the bone marrow. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13867810+23570799+14886400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 19-year-old Cuban man (patient 6a) with CDAN3A, <a href="#10" class="mim-tip-reference" title="Mendez, M., Moreno-Carralero, M. I., Peri, V. L., Camacho-Galan, R., Bosch-Benitez, J. M., Huerta-Aragones, J., Sanchez-Calero-Guilate, J., Moreno-Risco, M. B., Alonso-Dominguez, J. M., Moran-Jimenez, M. J. <strong>Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.</strong> Ann. Hemat. 100: 353-364, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33159567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33159567</a>] [<a href="https://doi.org/10.1007/s00277-020-04319-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33159567">Mendez et al. (2021)</a> identified a heterozygous frameshift mutation in the KIF23 gene, predicted to result in abnormal elongation of the protein (<a href="/entry/605064#0002">605064.0002</a>). The mutation, which was found by targeted sequencing of a gene panel and confirmed, was inherited from the mildly affected mother (patient 6b) who was clinically asymptomatic. The mutation was not present in the dbSNP or gnomAD database. The authors noted that the mutation would eliminate the second nuclear localization signal and thereby interfere with nuclear distribution of the KIF23 protein essential for cytokinesis. Immunofluorescence studies of cells transfected with the mutation showed diffuse cytoplasmic KIF23 staining or intense KIF23 staining around the nucleus, whereas cells transfected with wildtype showed KIF23 staining as intense dots within the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33159567" 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="Ohisalo, J. J., Viitala, J., Lintula, R., Ruutu, T. <strong>A new congenital dyserythropoietic anaemia.</strong> Brit. J. Haemat. 68: 111-114, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3345287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3345287</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1988.tb04187.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3345287">Ohisalo et al. (1988)</a> reported what they suggested was a 'new' type of CDA in father and daughter. The father's case had been described by <a href="#6" class="mim-tip-reference" title="Koskinen, P. J., Kurkipaa, M., Airaksinen, K. <strong>Massive heterotopia of bone marrow simulating mediastinal tumour.</strong> Ann. Med. Int. Fenn. 51: 145-149, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14458656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14458656</a>]" pmid="14458656">Koskinen et al. (1962)</a>. He became icteric at the age of 10 years and anemia was established at the age of 23. The bone marrow showed highly hyperplastic erythropoiesis, and reticulocyte counts ranged from 4.2 to 28.5%. Constitutional anomalies included dome-shaped head and slightly protruding eyes with high and sharply arched palate. He had hemolysis and died of hemochromatosis at the age of 37 years. Massive heterotopia of bone marrow simulated mediastinal tumor. The daughter had been icteric from the age of 8 months. Cholecystectomy was performed at the age of 13 years. Mild anemia and marked hypercellularity of the bone marrow were found. The concentration of bilirubin was lowered markedly by administration of phenobarbital. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3345287+14458656" 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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Bergstrom, I., Jacobsson, L.
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<strong>Hereditary benign erythroreticulosis.</strong>
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Blood 19: 296-303, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13867810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13867810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13867810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bjorksten, B., Holmgren, G., Roos, G., Stenling, R.
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<strong>Congenital dyserythropoietic anaemia type III: an electron microscopic study.</strong>
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Brit. J. Haemat. 38: 37-42, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/638061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">638061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=638061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1978.tb07106.x" target="_blank">Full Text</a>]
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Clauvel, J. P., Cosson, A., Breton-Gorius, J., Flandrin, G., Faille, A., Bonnet-Gajdos, M., Turpin, F., Bernard, J.
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<strong>Dyserythropoiese congenitale: etude de 6 observations.</strong>
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Nouv. Rev. Franc. Hemat. 12: 635-672, 1972.
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Goudsmit, R., Beckers, D., De Bruijne, J. I., Engelfriet, C. P., James, J., Morselt, A. F. W., Reynierse, T.
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<strong>Congenital dyserythropoietic anaemia, type III.</strong>
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Brit. J. Haemat. 23: 97-105, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5045964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5045964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5045964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1972.tb03463.x" target="_blank">Full Text</a>]
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Holmgren, G.
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<strong>Personal Communication.</strong>
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Umea, Sweden 1/15/1985.
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Koskinen, P. J., Kurkipaa, M., Airaksinen, K.
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<strong>Massive heterotopia of bone marrow simulating mediastinal tumour.</strong>
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Ann. Med. Int. Fenn. 51: 145-149, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14458656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14458656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14458656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liljeholm, M., Irvine, A. F., Vikberg, A.-L., Norberg, A., Month, S., Sandstrom, H., Wahlin, A., Mishima, M., Golovleva, I.
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<strong>Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.</strong>
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Blood 121: 4791-4799, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23570799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23570799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23570799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood-2012-10-461392" target="_blank">Full Text</a>]
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Lind, L., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson-Sojka, B., Sikstrom, C., Holmgren, G.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.</strong>
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Hum. Molec. Genet. 4: 109-112, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.1.109" target="_blank">Full Text</a>]
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Lind, L., Sikstrom, C., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson, B., Holmgren, G.
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<strong>The locus for congenital dyserythropoietic anemia type III (CDA III), associated with monoclonal gammopathy and myeloma, is localized on chromosome 15q21. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A1035 only, 1993.
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Mendez, M., Moreno-Carralero, M. I., Peri, V. L., Camacho-Galan, R., Bosch-Benitez, J. M., Huerta-Aragones, J., Sanchez-Calero-Guilate, J., Moreno-Risco, M. B., Alonso-Dominguez, J. M., Moran-Jimenez, M. J.
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<strong>Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.</strong>
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Ann. Hemat. 100: 353-364, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33159567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33159567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33159567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00277-020-04319-5" target="_blank">Full Text</a>]
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Ohisalo, J. J., Viitala, J., Lintula, R., Ruutu, T.
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<strong>A new congenital dyserythropoietic anaemia.</strong>
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Brit. J. Haemat. 68: 111-114, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3345287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3345287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3345287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1988.tb04187.x" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Sandstrom1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sandstrom, H., Wahlin, A., Eriksson, M., Bergstrom, I., Wickramasinghe, S. N.
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<strong>Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III.</strong>
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Europ. J. Haemat. 52: 42-46, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8299769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8299769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8299769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1994.tb01283.x" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Weatherly1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weatherly, T. L., Flannery, E. P., Doyle, W. F., Shohet, S. B., Garratty, G.
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<strong>Congenital dyserythropoietic anemia (CDA) with increased red cell lipids.</strong>
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Am. J. Med. 57: 912-919, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4432872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4432872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4432872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9343(74)90169-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Wickramasinghe1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wickramasinghe, S. N., Parry, T. E., Williams, C., Bond, A. N., Hughes, M., Crook, S.
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<strong>A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells.</strong>
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J. Clin. Path. 35: 1103-1109, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6182166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6182166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6182166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jcp.35.10.1103" target="_blank">Full Text</a>]
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</p>
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<a id="15" class="mim-anchor"></a>
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<a id="Wickramasinghe1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wickramasinghe, S. N., Wahlin, A., Anstee, D., Parsons, S. F., Stopps, G., Bergstrom, I., Eriksson, M., Sandstrom, H., Shiels, S.
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<strong>Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III.</strong>
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Europ. J. Haemat. 50: 213-221, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8500603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8500603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8500603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1993.tb01923.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Wolff1951" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolff, J. A., von Hofe, F. M.
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<strong>Familial erythroid multinuclearity.</strong>
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Blood 6: 1274-1283, 1951.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14886400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14886400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14886400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/10/2022
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/16/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/15/2022<br>ckniffin : 03/10/2022<br>ckniffin : 02/10/2014<br>carol : 12/23/2010<br>mgross : 3/17/2004<br>carol : 2/26/2001<br>carol : 6/27/1999<br>terry : 5/20/1999<br>carol : 2/15/1999<br>alopez : 6/8/1998<br>jenny : 11/5/1997<br>carol : 2/6/1995<br>jason : 6/9/1994<br>mimadm : 3/11/1994<br>carol : 10/13/1993<br>carol : 9/29/1993<br>carol : 7/9/1993
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</span>
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<span class="mim-font">
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<strong>#</strong> 105600
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</span>
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<div>
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<h3>
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<span class="mim-font">
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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa; CDAN3A
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIA<br />
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CDA, TYPE IIIA<br />
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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III; CDAN3<br />
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CDA, TYPE III<br />
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ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS<br />
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ERYTHRORETICULOSIS, HEREDITARY BENIGN
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 26409005;
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<strong>ORPHA:</strong> 85, 98870;
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<strong>DO:</strong> 0111399;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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15q23
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<span class="mim-font">
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Anemia, congenital dyserythropoietic, type IIIA
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</td>
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<td>
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<span class="mim-font">
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105600
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</span>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<span class="mim-font">
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KIF23
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</td>
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<span class="mim-font">
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605064
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that congenital dyserythropoietic anemia type IIIa (CDAN3A) is caused by heterozygous mutation in the KIF23 gene (605064) on chromosome 15q23.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013). </p><p>For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>In an American mother and all 3 of her children, Wolff and von Hofe (1951) described mild anemia, macrocytosis in the peripheral blood, and giant multinuclear erythroblasts in the bone marrow. They termed the disorder 'familial erythroid multinuclearity.' </p><p>Bergstrom and Jacobsson (1962) reported 15 cases in a family from the Vasterbotten area of northern Sweden. They called the disorder 'hereditary benign erythroreticulosis.' An autosomal dominant pattern of inheritance was observed. </p><p>Weatherly et al. (1974) described a form of congenital dyserythropoietic anemia in a Filipino mother and 2 of her daughters. There were no serologic abnormalities and the proband's red cells showed a lipid abnormality not previously described in CDA. </p><p>Bjorksten et al. (1978) stated that, including the reports of Clauvel et al. (1972) and Goudsmit et al. (1972), only 23 cases of CDA III in 4 families had been reported. Liljeholm et al. (2013) stated that the patient reported by Goudsmit et al. (1972) may have a had a different condition because the pattern of inheritance was most consistent with an autosomal recessive disorder. </p><p>Wickramasinghe et al. (1982) reported an asymptomatic 19-year-old man from the British Isles with CDA III. </p><p>Some electron-microscopic differences from CDA I (224120) were reported by Bjorksten et al. (1978), who studied a mother and daughter from the kindred reported by Bergstrom and Jacobsson (1962). Holmgren (1985) stated that 17 cases had been identified in this family, all living in northern Sweden. In a study of 2 affected members of this family, Wickramasinghe et al. (1993) found unusual features: hemosiderinuria, grossly disorganized erythroblast nuclei, differences in the ultrastructural appearance of individual nuclei within the same multinucleate erythroblast, and intraerythroblastic inclusions resembling precipitated globin chains. In both cases, the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28 and 48 times, respectively, the haploid DNA content. They commented that the findings were similar to those that occur in patients with presumed autosomal recessive inheritance of CDA III. </p><p>Lind et al. (1993) pointed out that affected members of the Swedish family originally reported by Bergstrom and Jacobsson (1962) displayed mild to moderate anemia, multinuclear erythroblasts, and elevated levels of serum thymidine kinase. Lind et al. (1995) further characterized the disorder in this family with known affected members in 5 generations and by inference in a sixth. They found an unusual concurrence of type III CDA with myeloma or benign monoclonal gammopathy. Among 20 CDA III patients examined (Sandstrom et al., 1994), 1 had multiple myeloma and 3 had monoclonal gammopathy of undetermined significance (MGUS), whereas the healthy relatives did not show any sign of gammopathy. A deceased member of the family had had both CDA III and myeloma, whereas no signs of gammopathy had been recorded among family members not affected by CDA III. </p><p>Mendez et al. (2021) reported a 19-year-old Cuban man (patient 6a) who was diagnosed with Gilbert syndrome due to hyperbilirubinemia at age 14 years. At age 17, he was hospitalized with a hemolytic crisis associated with a febrile illness. Features included mild macrocytic anemia, splenomegaly, and severe erythroid hyperplasia, anisocytosis, and poikilocytosis in a blood smear. Bone marrow aspirate showed large multinucleated erythroblasts; karyorrhexis and basophilic stippling were also observed. Electron microscopy showed irregular distribution of euchromatin and heterochromatin in red cells. He did not require blood transfusion. His mother (patient 6B) was clinically asymptomatic, but had splenomegaly and had undergone cholecystectomy. Her peripheral blood smear showed some abnormalities. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of CDAN3A in the large Swedish family reported by Bergstrom and Jacobsson (1962) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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<p>Lind et al. (1993) performed linkage studies in the large kindred originally reported by Bergstrom and Jacobsson (1962), which could be traced back to a couple born in northern Sweden in the 19th century. Using microsatellite markers, they found linkage of the disorder to chromosome 15q21, between D15S125 and D15S114. The lod scores were 6.0 or greater with both markers. Lind et al. (1995) demonstrated close linkage of the CDAN3 locus to microsatellite markers within an 11-cM interval within 15q21-q25. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 39 affected members of a Swedish family (Bergstrom and Jacobsson, 1962) and in 4 affected members of an American family (Wolff and von Hofe, 1951) with CDAN3A, Liljeholm et al. (2013) identified a heterozygous missense mutation in the KIF23 gene (P916R; 605064.0001).The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in both families. It was not present in 356 Swedish controls or in the dbSNP database. In vitro functional expression assays showed that the P916R mutant was unable to rescue failed cytokinesis in KIF23-null HeLa cells. Erythrocytes appeared to be most affected by this variant, which explained the presence of multinucleated erythroblasts in the bone marrow. </p><p>In a 19-year-old Cuban man (patient 6a) with CDAN3A, Mendez et al. (2021) identified a heterozygous frameshift mutation in the KIF23 gene, predicted to result in abnormal elongation of the protein (605064.0002). The mutation, which was found by targeted sequencing of a gene panel and confirmed, was inherited from the mildly affected mother (patient 6b) who was clinically asymptomatic. The mutation was not present in the dbSNP or gnomAD database. The authors noted that the mutation would eliminate the second nuclear localization signal and thereby interfere with nuclear distribution of the KIF23 protein essential for cytokinesis. Immunofluorescence studies of cells transfected with the mutation showed diffuse cytoplasmic KIF23 staining or intense KIF23 staining around the nucleus, whereas cells transfected with wildtype showed KIF23 staining as intense dots within the nucleus. </p>
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<span class="mim-font">
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<strong>History</strong>
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<p>Ohisalo et al. (1988) reported what they suggested was a 'new' type of CDA in father and daughter. The father's case had been described by Koskinen et al. (1962). He became icteric at the age of 10 years and anemia was established at the age of 23. The bone marrow showed highly hyperplastic erythropoiesis, and reticulocyte counts ranged from 4.2 to 28.5%. Constitutional anomalies included dome-shaped head and slightly protruding eyes with high and sharply arched palate. He had hemolysis and died of hemochromatosis at the age of 37 years. Massive heterotopia of bone marrow simulated mediastinal tumor. The daughter had been icteric from the age of 8 months. Cholecystectomy was performed at the age of 13 years. Mild anemia and marked hypercellularity of the bone marrow were found. The concentration of bilirubin was lowered markedly by administration of phenobarbital. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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</div>
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<li>
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<p class="mim-text-font">
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Bergstrom, I., Jacobsson, L.
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<strong>Hereditary benign erythroreticulosis.</strong>
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Blood 19: 296-303, 1962.
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[PubMed: 13867810]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bjorksten, B., Holmgren, G., Roos, G., Stenling, R.
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<strong>Congenital dyserythropoietic anaemia type III: an electron microscopic study.</strong>
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Brit. J. Haemat. 38: 37-42, 1978.
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[PubMed: 638061]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1978.tb07106.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Clauvel, J. P., Cosson, A., Breton-Gorius, J., Flandrin, G., Faille, A., Bonnet-Gajdos, M., Turpin, F., Bernard, J.
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<strong>Dyserythropoiese congenitale: etude de 6 observations.</strong>
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Nouv. Rev. Franc. Hemat. 12: 635-672, 1972.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goudsmit, R., Beckers, D., De Bruijne, J. I., Engelfriet, C. P., James, J., Morselt, A. F. W., Reynierse, T.
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<strong>Congenital dyserythropoietic anaemia, type III.</strong>
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Brit. J. Haemat. 23: 97-105, 1972.
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[PubMed: 5045964]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1972.tb03463.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Holmgren, G.
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<strong>Personal Communication.</strong>
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Umea, Sweden 1/15/1985.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Koskinen, P. J., Kurkipaa, M., Airaksinen, K.
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<strong>Massive heterotopia of bone marrow simulating mediastinal tumour.</strong>
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Ann. Med. Int. Fenn. 51: 145-149, 1962.
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[PubMed: 14458656]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Liljeholm, M., Irvine, A. F., Vikberg, A.-L., Norberg, A., Month, S., Sandstrom, H., Wahlin, A., Mishima, M., Golovleva, I.
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<strong>Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.</strong>
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Blood 121: 4791-4799, 2013.
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[PubMed: 23570799]
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[Full Text: https://doi.org/10.1182/blood-2012-10-461392]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lind, L., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson-Sojka, B., Sikstrom, C., Holmgren, G.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.</strong>
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Hum. Molec. Genet. 4: 109-112, 1995.
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[PubMed: 7711721]
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[Full Text: https://doi.org/10.1093/hmg/4.1.109]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lind, L., Sikstrom, C., Sandstrom, H., Wahlin, A., Eriksson, M., Nilsson, B., Holmgren, G.
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<strong>The locus for congenital dyserythropoietic anemia type III (CDA III), associated with monoclonal gammopathy and myeloma, is localized on chromosome 15q21. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A1035 only, 1993.
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</p>
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<li>
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<p class="mim-text-font">
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Mendez, M., Moreno-Carralero, M. I., Peri, V. L., Camacho-Galan, R., Bosch-Benitez, J. M., Huerta-Aragones, J., Sanchez-Calero-Guilate, J., Moreno-Risco, M. B., Alonso-Dominguez, J. M., Moran-Jimenez, M. J.
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<strong>Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.</strong>
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Ann. Hemat. 100: 353-364, 2021.
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[PubMed: 33159567]
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[Full Text: https://doi.org/10.1007/s00277-020-04319-5]
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<li>
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<p class="mim-text-font">
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Ohisalo, J. J., Viitala, J., Lintula, R., Ruutu, T.
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<strong>A new congenital dyserythropoietic anaemia.</strong>
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Brit. J. Haemat. 68: 111-114, 1988.
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[PubMed: 3345287]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1988.tb04187.x]
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<p class="mim-text-font">
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Sandstrom, H., Wahlin, A., Eriksson, M., Bergstrom, I., Wickramasinghe, S. N.
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<strong>Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III.</strong>
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Europ. J. Haemat. 52: 42-46, 1994.
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[PubMed: 8299769]
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[Full Text: https://doi.org/10.1111/j.1600-0609.1994.tb01283.x]
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<li>
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<p class="mim-text-font">
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Weatherly, T. L., Flannery, E. P., Doyle, W. F., Shohet, S. B., Garratty, G.
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<strong>Congenital dyserythropoietic anemia (CDA) with increased red cell lipids.</strong>
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Am. J. Med. 57: 912-919, 1974.
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[PubMed: 4432872]
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[Full Text: https://doi.org/10.1016/0002-9343(74)90169-7]
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<p class="mim-text-font">
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Wickramasinghe, S. N., Parry, T. E., Williams, C., Bond, A. N., Hughes, M., Crook, S.
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<strong>A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells.</strong>
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J. Clin. Path. 35: 1103-1109, 1982.
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[PubMed: 6182166]
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[Full Text: https://doi.org/10.1136/jcp.35.10.1103]
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<li>
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<p class="mim-text-font">
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Wickramasinghe, S. N., Wahlin, A., Anstee, D., Parsons, S. F., Stopps, G., Bergstrom, I., Eriksson, M., Sandstrom, H., Shiels, S.
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<strong>Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III.</strong>
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Europ. J. Haemat. 50: 213-221, 1993.
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[PubMed: 8500603]
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[Full Text: https://doi.org/10.1111/j.1600-0609.1993.tb01923.x]
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<p class="mim-text-font">
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Wolff, J. A., von Hofe, F. M.
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<strong>Familial erythroid multinuclearity.</strong>
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Blood 6: 1274-1283, 1951.
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[PubMed: 14886400]
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Cassandra L. Kniffin - updated : 03/10/2022
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