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Entry
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- #224120 - ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
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- OMIM
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<p>
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<span class="h4">#224120</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/224120"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS224120"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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 id="mimEuroGentestFold" class="collapse">
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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=13886&Typ=Pat" title="Congenital dyserythropoietic anemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital dyserythropoiet… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK5313/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=224120[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 id="mimOrphanetFold" class="collapse">
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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=98869" title="Congenital dyserythropoietic anemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital dyserythropoiet…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/465c4c4d-d736-460d-9c4e-aa3f898d5164/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111398" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/224120" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000313,002300" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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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> 59548005<br />
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<strong>ORPHA:</strong> 85, 98869<br />
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<strong>DO:</strong> 0111398<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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224120
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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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 Ia<br />
|
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CDA, TYPE Ia<br />
|
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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
|
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<th>
|
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Inheritance
|
|
</th>
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<th>
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Phenotype <br /> mapping key
|
|
</th>
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<th>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/15/138?start=-3&limit=10&highlight=138">
|
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15q15.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Dyserythropoietic anemia, congenital, type Ia
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/224120"> 224120 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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CDAN1
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/607465"> 607465 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/224120" 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>
|
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</div>
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<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>
|
|
|
|
|
|
|
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|
|
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|
|
<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/224120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/224120" 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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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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> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Syndactyly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Jaundice <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2203646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2203646</a>, <a href="https://bioportal.bioontology.org/search?q=C0022346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022346</a>, <a href="https://bioportal.bioontology.org/search?q=C2010848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2010848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</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">
|
|
|
|
- Dyserythropoietic anemia <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 /> -
|
|
Peripheral blood smear shows polychromasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806287&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806287</a>]</span><br /> -
|
|
Poikilocytosis <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221281</a> 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> <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 /> -
|
|
Anisocytosis <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221278</a> 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> <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 /> -
|
|
Macrocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72826005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72826005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397073000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397073000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0684332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0684332</a>, <a href="https://bioportal.bioontology.org/search?q=C2004480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2004480</a>, <a href="https://bioportal.bioontology.org/search?q=C0085662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085662</a>]</span><br /> -
|
|
Increased reticulocytes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46049004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46049004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span><br /> -
|
|
Bone marrow biopsy shows erythroid hyperplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838111&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838111</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 /> -
|
|
Megaloblastic erythropoiesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67093004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67093004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302176</a>]</span><br /> -
|
|
Multinuclear erythroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749670</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034278</a>]</span><br /> -
|
|
Internuclear chromatin bridges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806289</a>]</span><br /> -
|
|
Heterochromatin clumps with spongy, 'Swiss cheese' appearance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806290</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
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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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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </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>
|
|
<span class="mim-font">
|
|
|
|
- Decreased hemoglobin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165397008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165397008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
|
|
Increased serum bilirubin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0859062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0859062</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">
|
|
<strong> MISCELLANEOUS </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>
|
|
<span class="mim-font">
|
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|
|
- Variable age at diagnosis<br /> -
|
|
Anemia may show favorable response to alpha-interferon treatment<br />
|
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|
|
</span>
|
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</div>
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|
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</div>
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|
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</div>
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the codanin 1 gene (CDAN1, <a href="/entry/607465#0001">607465.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
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|
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</div>
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
|
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|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<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>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/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>
|
|
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<p>A number sign (#) is used with this entry because of evidence that congenital dyserythropoietic anemia type Ia (CDAN1A) is caused by homozygous or compound heterozygous mutation in the gene encoding codanin-1 (CDAN1; <a href="/entry/607465">607465</a>) on chromosome 15q15.</p>
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<p>CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (<a href="#15" class="mim-tip-reference" title="Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J. <strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong> Brit. J. Haemat. 130: 628-634, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098079">Tamary et al., 2005</a>). Striking morphologic abnormalities of erythroblasts, reviewed by <a href="#22" class="mim-tip-reference" title="Wickramasinghe, S. N., Wood, W. G. <strong>Advances in the understanding of the congenital dyserythropoietic anaemias.</strong> Brit. J. Haemat. 131: 431-446, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16281933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16281933</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05757.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16281933">Wickramasinghe and Wood (2005)</a>, include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16281933+16098079" 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>Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by <a href="#20" class="mim-tip-reference" title="Wendt, F., Heimpel, H. <strong>Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar.</strong> Med. Klin. 62: 172-177, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5590186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5590186</a>]" pmid="5590186">Wendt and Heimpel (1967)</a>. Type I is characterized by megaloblastic changes. Type II (<a href="/entry/224100">224100</a>), which is more common, is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (see, e.g., <a href="/entry/105600">105600</a>) has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (see <a href="/entry/613673">613673</a>) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (<a href="#21" class="mim-tip-reference" title="Wickramasinghe, S. N., Illum, N., Wimberley, P. D. <strong>Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions.</strong> Brit. J. Haemat. 79: 322-330, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1659863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1659863</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1991.tb04541.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1659863">Wickramasinghe et al., 1991</a>; <a href="#2" class="mim-tip-reference" title="Arnaud, L., Saison, C., Helias, V., Lucien, N., Steschenko, D., Giarratana, M.-C., Prehu, C., Foliguet, B., Montout, L., de Brevern, A. G., Francina, A., Ripoche, P., and 11 others. <strong>A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.</strong> Am. J. Hum. Genet. 87: 721-727, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21055716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21055716</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21055716[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.10.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21055716">Arnaud et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21055716+5590186+1659863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Congenital Dyserythropoietic Anemia</em></strong></p><p>
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CDAN1B (<a href="/entry/615631">615631</a>) is caused by mutation in the CDIN1 gene (<a href="/entry/615626">615626</a>) on chromosome 15q14; CDAN2 (<a href="/entry/224100">224100</a>) is caused by mutation in the SEC23B gene (<a href="/entry/610512">610512</a>) on chromosome 20p11; CDAN3A (<a href="/entry/105600">105600</a>) is caused by mutation in the KIF23 gene (<a href="/entry/605064">605064</a>) on chromosome 15q23; CDAN3B (<a href="/entry/619789">619789</a>) is caused by mutation in the RACGAP1 gene (<a href="/entry/604980">604980</a>) on chromosome 12q13; and CDAN4A (<a href="/entry/613673">613673</a>) and CDAN4B (<a href="/entry/620969">620969</a>) are both caused by mutation in the KLF1 gene (<a href="/entry/600599">600599</a>) on chromosome 19p13.</p><p>For a possible additional form of CDA type I, see <a href="/entry/603529">603529</a>.</p>
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<p><a href="#20" class="mim-tip-reference" title="Wendt, F., Heimpel, H. <strong>Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar.</strong> Med. Klin. 62: 172-177, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5590186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5590186</a>]" pmid="5590186">Wendt and Heimpel (1967)</a> described dizygotic twins with a macrocytic form of dyserythropoietic anemia in which the bone marrow contained megaloblastoid erythroblasts with characteristic chromatin bridges between the nuclei. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5590186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Benjamin, J. T., Rosse, W. F., Dalldorf, F. G., McMillan, C. W. <strong>Congenital dyserythropoietic anemia--type 4.</strong> J. Pediat. 87: 210-216, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1097617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1097617</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80581-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1097617">Benjamin et al. (1975)</a> described a single patient with a form of dyserythropoietic anemia that did not satisfy any of the known criteria. Her red cells had normoblastic multinuclearity and normocytosis but lacked the ultrastructural and serologic features of type II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1097617" 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="#8" class="mim-tip-reference" title="Heimpel, H. <strong>Congenital dyserythropoietic anaemia type I: clinical and experimental aspects. In: Porter, R.; Fitzsimons, D. W. (ed.): Congenital Disorders of Erythropoiesis (Ciba Symposium).</strong> Amsterdam: Elsevier (pub.) 1976."None>Heimpel (1976)</a> counted 21 reported cases of CDA I, the rarest type. These included 3 pairs of sibs.</p><p><a href="#10" class="mim-tip-reference" title="Lay, H. N., Pemberton, P. J., Hilton, H. B. <strong>Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice.</strong> Arch. Dis. Child. 53: 753-755, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718245</a>] [<a href="https://doi.org/10.1136/adc.53.9.753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="718245">Lay et al. (1978)</a> reported 2 brothers with neonatal jaundice, requiring transfusion at 8 weeks of age but subsequently remaining well, with only mild anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718245" 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="Kuribayashi, T., Uchida, S., Kuroume, T., Umegae, S., Omine, M., Maekawa, T. <strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan.</strong> Blut 39: 201-209, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476312</a>] [<a href="https://doi.org/10.1007/BF01008449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="476312">Kuribayashi et al. (1979)</a> reported affected brother and sister with first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Mori, P. G., Favareto, F., Schenone, A., Molinari, A. C., Boeri, E., Massimo, L., Bandelloni, R., Sansone, G. <strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings.</strong> Acta Haemat. 75: 219-223, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3096054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3096054</a>] [<a href="https://doi.org/10.1159/000206129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3096054">Mori et al. (1986)</a> reported the sixth family with more than 1 affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3096054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Facon, T., Mannessier, L., Lepelley, P., Weill, J., Fenaux, P., Dupriez, B., Morel, P., Jouet, J. P. <strong>Congenital diserythropoietic [sic] anemia type I: report on monozygotic twins with associated hemochromatosis and short stature.</strong> Blut 61: 248-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2224147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2224147</a>] [<a href="https://doi.org/10.1007/BF01744140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2224147">Facon et al. (1990)</a> reported affected identical twins; both children had mild hemochromatosis. Moderate growth retardation appeared to be related to pituitary failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2224147" 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="#4" class="mim-tip-reference" title="Carter, C., Darbyshire, P. J., Wickramasinghe, S. N. <strong>A congenital dyserythropoietic anaemia variant presenting as hydrops foetalis.</strong> Brit. J. Haemat. 72: 289-290, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757972</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1989.tb07699.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2757972">Carter et al. (1989)</a> and <a href="#23" class="mim-tip-reference" title="Williams, G., Lorimer, S., Merry, C. C., Greenberg, C. R., Bishop, A. J. <strong>A variant congenital dyserythropoietic anaemia presenting as a fatal hydrops foetalis.</strong> Brit. J. Haemat. 76: 438-439, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2261356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2261356</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb06383.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2261356">Williams et al. (1990)</a> reported cases of congenital erythropoietic anemia presenting as hydrops fetalis. The patient reported by <a href="#4" class="mim-tip-reference" title="Carter, C., Darbyshire, P. J., Wickramasinghe, S. N. <strong>A congenital dyserythropoietic anaemia variant presenting as hydrops foetalis.</strong> Brit. J. Haemat. 72: 289-290, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757972</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1989.tb07699.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2757972">Carter et al. (1989)</a> was the product of first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2757972+2261356" 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="Al-Fawaz, I. M., Al-Mashhadani, S. A. <strong>Congenital dyserythropoietic anaemia type I: report of two siblings from Saudi Arabia.</strong> Acta Haemat. 93: 50-53, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7725852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7725852</a>] [<a href="https://doi.org/10.1159/000204092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7725852">Al-Fawaz and Al-Mashhadani (1995)</a> described the cases of a brother and sister with CDA I. The girl presented in the neonatal period with anemia, jaundice, and hepatosplenomegaly and required 4 blood transfusions in the first 7 months of life, while her brother was discovered to be anemic and jaundiced only at the age of 2 years and did not receive any blood transfusions. The children were reported from Saudi Arabia; the parents were first cousins. The authors referred to a previous report of 3 cases from Kuwait (<a href="#24" class="mim-tip-reference" title="Zaki, M., Hassanein, A. A., Daoud, A. S., Al Saleh, Q. <strong>Congenital dyserythropoietic anaemia in children: report of three cases from Kuwait.</strong> Ann. Trop. Paediat. 9: 161-164, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2475061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2475061</a>] [<a href="https://doi.org/10.1080/02724936.1989.11748621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2475061">Zaki et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2475061+7725852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Tamary, H., Shalmon, L., Shalev, H., Halil, A., Shaft, D., Zoldan, M., Resnitzky, P., Korostishevky, M., Zaizov, R. <strong>Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3. (Abstract)</strong> Blood 88 (suppl. 1): 144a, 1996."None>Tamary et al. (1996)</a> described CDA I among Israeli Bedouins. In affected persons, the erythroid precursors demonstrated S phase arrest and ultrastructural morphologic features consistent with apoptosis.</p><p><a href="#14" class="mim-tip-reference" title="Shalev, H., Moser, A., Kapelushnik, J., Karplus, M., Zucker, N., Yaniv, I., Tamary, H. <strong>Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn.</strong> J. Pediat. 136: 553-555, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10753260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10753260</a>] [<a href="https://doi.org/10.1016/s0022-3476(00)90025-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10753260">Shalev et al. (2000)</a> reported 3 sibs from a Bedouin family with CDA I who presented with persistent pulmonary hypertension of the newborn. They suggested that the diagnosis of CDA I should be considered in any neonate with persistent pulmonary hypertension and anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10753260" 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="Parez, N., Dommergues, M., Zupan, V., Chambost, H., Fieschi, J. B., Delaunay, J., Mielot, F., Cramer, E. M., Dommergues, J.-P., Wickramasinghe, S. N., Tchernia, G. <strong>Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.</strong> Brit. J. Haemat. 110: 420-423, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10971401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10971401</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2000.02168.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10971401">Parez et al. (2000)</a> described a patient with severe pre- and postnatal manifestations of CDA I. Exchange transfusions were required for fetal anemia at 28 and 30 weeks' gestation. Transfusions were administered at birth by cesarean section at week 35 and at regular intervals thereafter. Successful treatment with alpha-interferon was initiated at 14 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10971401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J. <strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong> Brit. J. Haemat. 130: 628-634, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2005.05642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098079">Tamary et al. (2005)</a> reported 6 French patients, 1 European American patient, and 1 Israeli Arab patient. Four of the 8 patients had neonatal manifestations, 3 had complex bone disease, and 2 had both. Three patients had only mild anemia and hyperferritinemia. The bony abnormalities were described as acrodysostosis with vertebral anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E. <strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong> Blood 107: 334-340, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16141353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16141353</a>] [<a href="https://doi.org/10.1182/blood-2005-01-0421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16141353">Heimpel et al. (2006)</a> followed 21 patients from 19 families with CDA I for up to 37 years. All patients exhibited chronic macrocytic anemia of variable severity, requiring regular red cell transfusions in only 2 individuals. Additional congenital malformations were seen in 7 patients, involving a sixth toe and syndactyly in 3 patients and a ventricular septal defect, short stature, double kidneys, and hip dysplasia in 1 each. Gallstones developed in 4 patients before the age of 30 years, and iron overloading was found in 20 of 21 patients. Splenectomy, which was performed in 7 patients, did not result in improvement of hemoglobin parameters. Five patients were treated with interferon alpha-2a (see <a href="/entry/147562">147562</a>), and all responded with a rise in hemoglobin concentration of 2.5 to 3.5 g/dL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16141353" 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>Many patients with CDA I develop iron overload, even if transfusion-independent. Among 17 CDA I patients, <a href="#16" class="mim-tip-reference" title="Tamary, H., Shalev, H., Perez-Avraham, G., Zoldan, M., Levi, I., Swinkels, D. W., Tanno, T., Miller, J. L. <strong>Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.</strong> Blood 112: 5241-5244, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18824595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18824595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18824595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2008-06-165738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18824595">Tamary et al. (2008)</a> found significantly increased levels of the cytokine GDF15 (<a href="/entry/605312">605312</a>) compared to controls. GDF15 suppresses hepcidin (<a href="/entry/606464">606464</a>), a regulator of iron homeostasis. Increased GDF15 was associated with ineffective hematopoiesis and iron-loading complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18824595" 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="#18" class="mim-tip-reference" title="Tamary, H., Shalmon, L., Shalev, H., Halil, A., Shaft, D., Zoldan, M., Resnitzky, P., Korostishevky, M., Zaizov, R. <strong>Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3. (Abstract)</strong> Blood 88 (suppl. 1): 144a, 1996."None>Tamary et al. (1996)</a> concluded that the gene for CDA I is located on 15q15.1-q15.3. The locus for CDA III had been mapped to approximately the same region, 15q21, and the locus for CDA II to 20q11.2. <a href="#18" class="mim-tip-reference" title="Tamary, H., Shalmon, L., Shalev, H., Halil, A., Shaft, D., Zoldan, M., Resnitzky, P., Korostishevky, M., Zaizov, R. <strong>Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3. (Abstract)</strong> Blood 88 (suppl. 1): 144a, 1996."None>Tamary et al. (1996)</a> employed homozygosity linkage mapping to localize the genetic defect responsible for CDA type I in 4 large consanguineous Israeli Bedouin families with 24 affected patients. They reported linkage to markers on 15q15.1-q15.3; 3 markers yielded maximum lod scores ranging from 5.025 to 6.585 with values of theta ranging from 0.02 to 0.06. Informative crossover events identified by haplotype analysis narrowed the area containing the CDA I gene to approximately 5 cM within the region stated. They suggested that the site where the CDA III gene had been mapped was approximately 20 cM telomeric to the locus for CDA I. In the full report, <a href="#17" class="mim-tip-reference" title="Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R. <strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong> Am. J. Hum. Genet. 62: 1062-1069, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545404</a>] [<a href="https://doi.org/10.1086/301834" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545404">Tamary et al. (1998)</a> reported studies in 25 Bedouins from the 4 large consanguineous families. A founder haplotype was identified. Identification of historical crossover events further narrowed the gene location to between D15S779 and D15S778. The data suggested localization of the CDA I gene within a 0.5-cM interval. The founder mutation probably occurred at least 400 years earlier. The only known erythroid-specific gene mapped to this region was that for erythrocyte surface protein band 4.2 (EPB42; <a href="/entry/177070">177070</a>). Sequence analysis of the coding region of the EPB42 gene revealed no mutations in the CDA I patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545404" 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 CDAN1A in the families reported by <a href="#5" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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="#5" class="mim-tip-reference" title="Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others. <strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong> Am. J. Hum. Genet. 71: 1467-1474, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/344781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12434312">Dgany et al. (2002)</a> identified CDAN1, the gene responsible for CDA I, through the identification of 12 different mutations in 9 families with the disorder (e.g., <a href="/entry/607465#0001">607465.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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 15 of 16 CDA I patients analyzed, <a href="#7" class="mim-tip-reference" title="Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E. <strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong> Blood 107: 334-340, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16141353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16141353</a>] [<a href="https://doi.org/10.1182/blood-2005-01-0421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16141353">Heimpel et al. (2006)</a> identified 17 different mutations in at least 1 allele of the CDAN1 gene. All but 1 of the mutations were located in exons 12 to 28; 1 mutation was found in exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16141353" 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 R1042W mutation in the CDAN1 gene (<a href="/entry/607465#0001">607465.0001</a>) is a founder mutation in the Bedouin population (<a href="#16" class="mim-tip-reference" title="Tamary, H., Shalev, H., Perez-Avraham, G., Zoldan, M., Levi, I., Swinkels, D. W., Tanno, T., Miller, J. L. <strong>Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.</strong> Blood 112: 5241-5244, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18824595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18824595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18824595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1182/blood-2008-06-165738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18824595">Tamary et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18824595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Maeda1980" class="mim-tip-reference" title="Maeda, K., Saeed, S. M., Rebuck, J. W., Monto, R. W. <strong>Type I dyserythropoietic anemia: a 30-year follow-up.</strong> Am. J. Clin. Path. 73: 433-438, 1980.">Maeda et al. (1980)</a>; <a href="#Vainchenker1980" class="mim-tip-reference" title="Vainchenker, W., Guichard, J., Bouguet, J., Breton-Gorius, J. <strong>Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts.</strong> Brit. J. Haemat. 46: 33-37, 1980.">Vainchenker et al. (1980)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1159/000204092" target="_blank">Full Text</a>]
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<a id="Arnaud2010" class="mim-anchor"></a>
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<strong>A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21055716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21055716</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21055716[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21055716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.10.010" target="_blank">Full Text</a>]
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<a id="Benjamin1975" class="mim-anchor"></a>
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<p class="mim-text-font">
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Benjamin, J. T., Rosse, W. F., Dalldorf, F. G., McMillan, C. W.
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[<a href="https://doi.org/10.1016/s0022-3476(75)80581-6" target="_blank">Full Text</a>]
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<a id="Carter1989" class="mim-anchor"></a>
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<strong>A congenital dyserythropoietic anaemia variant presenting as hydrops foetalis.</strong>
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[<a href="https://doi.org/10.1111/j.1365-2141.1989.tb07699.x" target="_blank">Full Text</a>]
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<a id="Dgany2002" class="mim-anchor"></a>
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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12434312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12434312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12434312[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12434312" 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/10.1086/344781" target="_blank">Full Text</a>]
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<a id="Facon1990" class="mim-anchor"></a>
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<p class="mim-text-font">
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Facon, T., Mannessier, L., Lepelley, P., Weill, J., Fenaux, P., Dupriez, B., Morel, P., Jouet, J. P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2224147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2224147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2224147" 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/BF01744140" target="_blank">Full Text</a>]
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Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E.
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[<a href="https://doi.org/10.1182/blood-2005-01-0421" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Heimpel1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heimpel, H.
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<strong>Congenital dyserythropoietic anaemia type I: clinical and experimental aspects. In: Porter, R.; Fitzsimons, D. W. (ed.): Congenital Disorders of Erythropoiesis (Ciba Symposium).</strong>
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<a id="9" class="mim-anchor"></a>
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<a id="Kuribayashi1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kuribayashi, T., Uchida, S., Kuroume, T., Umegae, S., Omine, M., Maekawa, T.
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<strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476312" 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/BF01008449" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718245" 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/adc.53.9.753" target="_blank">Full Text</a>]
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<a id="Maeda1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maeda, K., Saeed, S. M., Rebuck, J. W., Monto, R. W.
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<strong>Type I dyserythropoietic anemia: a 30-year follow-up.</strong>
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Am. J. Clin. Path. 73: 433-438, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7361726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7361726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7361726" 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/ajcp/73.3.433" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Mori1986" class="mim-anchor"></a>
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<div class="">
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Mori, P. G., Favareto, F., Schenone, A., Molinari, A. C., Boeri, E., Massimo, L., Bandelloni, R., Sansone, G.
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<strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3096054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3096054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3096054" 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/10.1159/000206129" target="_blank">Full Text</a>]
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<a id="Parez2000" class="mim-anchor"></a>
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<div class="">
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Parez, N., Dommergues, M., Zupan, V., Chambost, H., Fieschi, J. B., Delaunay, J., Mielot, F., Cramer, E. M., Dommergues, J.-P., Wickramasinghe, S. N., Tchernia, G.
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[<a href="https://doi.org/10.1046/j.1365-2141.2000.02168.x" target="_blank">Full Text</a>]
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<a id="Shalev2000" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0022-3476(00)90025-8" target="_blank">Full Text</a>]
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<a id="Tamary2005" class="mim-anchor"></a>
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Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098079" 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.1365-2141.2005.05642.x" target="_blank">Full Text</a>]
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<a id="Tamary2008" class="mim-anchor"></a>
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<div class="">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18824595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18824595</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18824595[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18824595" 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-2008-06-165738" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Tamary1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong>
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Am. J. Hum. Genet. 62: 1062-1069, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545404" 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/10.1086/301834" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Tamary1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Shaft, D., Zoldan, M., Resnitzky, P., Korostishevky, M., Zaizov, R.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1-15.3. (Abstract)</strong>
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Blood 88 (suppl. 1): 144a, 1996.
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<a id="19" class="mim-anchor"></a>
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<a id="Vainchenker1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vainchenker, W., Guichard, J., Bouguet, J., Breton-Gorius, J.
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<strong>Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts.</strong>
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Brit. J. Haemat. 46: 33-37, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7426450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7426450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7426450" 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.1365-2141.1980.tb05932.x" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Wendt1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wendt, F., Heimpel, H.
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<strong>Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar.</strong>
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Med. Klin. 62: 172-177, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5590186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5590186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5590186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Wickramasinghe1991" 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., Illum, N., Wimberley, P. D.
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<strong>Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions.</strong>
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Brit. J. Haemat. 79: 322-330, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1659863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1659863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1659863" 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.1365-2141.1991.tb04541.x" target="_blank">Full Text</a>]
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Wickramasinghe2005" 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., Wood, W. G.
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<strong>Advances in the understanding of the congenital dyserythropoietic anaemias.</strong>
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Brit. J. Haemat. 131: 431-446, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16281933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16281933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16281933" 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.1365-2141.2005.05757.x" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Williams1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, G., Lorimer, S., Merry, C. C., Greenberg, C. R., Bishop, A. J.
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<strong>A variant congenital dyserythropoietic anaemia presenting as a fatal hydrops foetalis.</strong>
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Brit. J. Haemat. 76: 438-439, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2261356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2261356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2261356" 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.1365-2141.1990.tb06383.x" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Zaki1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zaki, M., Hassanein, A. A., Daoud, A. S., Al Saleh, Q.
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<strong>Congenital dyserythropoietic anaemia in children: report of three cases from Kuwait.</strong>
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Ann. Trop. Paediat. 9: 161-164, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2475061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2475061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2475061" 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/10.1080/02724936.1989.11748621" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/10/2014
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/10/2009<br>Victor A. McKusick - updated : 9/28/2006<br>Marla J. F. O'Neill - updated : 3/30/2006<br>Victor A. McKusick - updated : 10/11/2005<br>Victor A. McKusick - updated : 1/8/2003<br>Deborah L. Stone - updated : 10/4/2001<br>Victor A. McKusick - updated : 11/29/2000<br>Victor A. McKusick - updated : 5/15/1998<br>Victor A. McKusick - updated : 10/28/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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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 : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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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alopez : 10/03/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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ckniffin : 10/02/2024<br>carol : 12/25/2022<br>carol : 03/15/2022<br>ckniffin : 03/10/2022<br>carol : 08/20/2018<br>carol : 08/17/2018<br>carol : 08/16/2018<br>carol : 02/11/2014<br>carol : 2/11/2014<br>mcolton : 2/10/2014<br>ckniffin : 2/10/2014<br>carol : 8/16/2013<br>terry : 9/28/2011<br>carol : 12/23/2010<br>ckniffin : 12/21/2010<br>carol : 12/20/2010<br>ckniffin : 12/20/2010<br>wwang : 6/30/2009<br>ckniffin : 6/10/2009<br>carol : 10/3/2006<br>terry : 9/28/2006<br>wwang : 3/31/2006<br>terry : 3/30/2006<br>wwang : 10/21/2005<br>terry : 10/11/2005<br>mgross : 1/8/2003<br>terry : 1/8/2003<br>carol : 10/4/2001<br>carol : 10/4/2001<br>mcapotos : 12/18/2000<br>mcapotos : 12/13/2000<br>terry : 11/29/2000<br>carol : 2/15/1999<br>alopez : 6/3/1998<br>alopez : 6/3/1998<br>alopez : 6/3/1998<br>terry : 5/15/1998<br>mark : 10/28/1997<br>terry : 10/28/1997<br>terry : 9/11/1995<br>mark : 8/3/1995<br>davew : 6/1/1994<br>mimadm : 4/18/1994<br>carol : 9/29/1993<br>supermim : 3/16/1992
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<h3>
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<span class="mim-font">
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<strong>#</strong> 224120
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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 Ia; CDAN1A
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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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<h4>
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<span class="mim-font">
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DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia<br />
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CDA, TYPE Ia<br />
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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 59548005;
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<strong>ORPHA:</strong> 85, 98869;
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<strong>DO:</strong> 0111398;
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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15q15.2
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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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Dyserythropoietic anemia, congenital, type Ia
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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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224120
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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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Autosomal recessive
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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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</td>
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<td>
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<span class="mim-font">
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CDAN1
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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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607465
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</span>
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</td>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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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 Ia (CDAN1A) is caused by homozygous or compound heterozygous mutation in the gene encoding codanin-1 (CDAN1; 607465) on chromosome 15q15.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy. </p><p>Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. Type II (224100), which is more common, is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (see, e.g., 105600) has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (see 613673) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). </p><p><strong><em>Genetic Heterogeneity of Congenital Dyserythropoietic Anemia</em></strong></p><p>
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CDAN1B (615631) is caused by mutation in the CDIN1 gene (615626) on chromosome 15q14; CDAN2 (224100) is caused by mutation in the SEC23B gene (610512) on chromosome 20p11; CDAN3A (105600) is caused by mutation in the KIF23 gene (605064) on chromosome 15q23; CDAN3B (619789) is caused by mutation in the RACGAP1 gene (604980) on chromosome 12q13; and CDAN4A (613673) and CDAN4B (620969) are both caused by mutation in the KLF1 gene (600599) on chromosome 19p13.</p><p>For a possible additional form of CDA type I, see 603529.</p>
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<h4>
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<strong>Clinical Features</strong>
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</h4>
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<p>Wendt and Heimpel (1967) described dizygotic twins with a macrocytic form of dyserythropoietic anemia in which the bone marrow contained megaloblastoid erythroblasts with characteristic chromatin bridges between the nuclei. </p><p>Benjamin et al. (1975) described a single patient with a form of dyserythropoietic anemia that did not satisfy any of the known criteria. Her red cells had normoblastic multinuclearity and normocytosis but lacked the ultrastructural and serologic features of type II. </p><p>Heimpel (1976) counted 21 reported cases of CDA I, the rarest type. These included 3 pairs of sibs.</p><p>Lay et al. (1978) reported 2 brothers with neonatal jaundice, requiring transfusion at 8 weeks of age but subsequently remaining well, with only mild anemia. </p><p>Kuribayashi et al. (1979) reported affected brother and sister with first-cousin parents. </p><p>Mori et al. (1986) reported the sixth family with more than 1 affected sib. </p><p>Facon et al. (1990) reported affected identical twins; both children had mild hemochromatosis. Moderate growth retardation appeared to be related to pituitary failure. </p><p>Carter et al. (1989) and Williams et al. (1990) reported cases of congenital erythropoietic anemia presenting as hydrops fetalis. The patient reported by Carter et al. (1989) was the product of first-cousin parents. </p><p>Al-Fawaz and Al-Mashhadani (1995) described the cases of a brother and sister with CDA I. The girl presented in the neonatal period with anemia, jaundice, and hepatosplenomegaly and required 4 blood transfusions in the first 7 months of life, while her brother was discovered to be anemic and jaundiced only at the age of 2 years and did not receive any blood transfusions. The children were reported from Saudi Arabia; the parents were first cousins. The authors referred to a previous report of 3 cases from Kuwait (Zaki et al., 1989). </p><p>Tamary et al. (1996) described CDA I among Israeli Bedouins. In affected persons, the erythroid precursors demonstrated S phase arrest and ultrastructural morphologic features consistent with apoptosis.</p><p>Shalev et al. (2000) reported 3 sibs from a Bedouin family with CDA I who presented with persistent pulmonary hypertension of the newborn. They suggested that the diagnosis of CDA I should be considered in any neonate with persistent pulmonary hypertension and anemia. </p><p>Parez et al. (2000) described a patient with severe pre- and postnatal manifestations of CDA I. Exchange transfusions were required for fetal anemia at 28 and 30 weeks' gestation. Transfusions were administered at birth by cesarean section at week 35 and at regular intervals thereafter. Successful treatment with alpha-interferon was initiated at 14 months. </p><p>Tamary et al. (2005) reported 6 French patients, 1 European American patient, and 1 Israeli Arab patient. Four of the 8 patients had neonatal manifestations, 3 had complex bone disease, and 2 had both. Three patients had only mild anemia and hyperferritinemia. The bony abnormalities were described as acrodysostosis with vertebral anomalies. </p><p>Heimpel et al. (2006) followed 21 patients from 19 families with CDA I for up to 37 years. All patients exhibited chronic macrocytic anemia of variable severity, requiring regular red cell transfusions in only 2 individuals. Additional congenital malformations were seen in 7 patients, involving a sixth toe and syndactyly in 3 patients and a ventricular septal defect, short stature, double kidneys, and hip dysplasia in 1 each. Gallstones developed in 4 patients before the age of 30 years, and iron overloading was found in 20 of 21 patients. Splenectomy, which was performed in 7 patients, did not result in improvement of hemoglobin parameters. Five patients were treated with interferon alpha-2a (see 147562), and all responded with a rise in hemoglobin concentration of 2.5 to 3.5 g/dL. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<p>Many patients with CDA I develop iron overload, even if transfusion-independent. Among 17 CDA I patients, Tamary et al. (2008) found significantly increased levels of the cytokine GDF15 (605312) compared to controls. GDF15 suppresses hepcidin (606464), a regulator of iron homeostasis. Increased GDF15 was associated with ineffective hematopoiesis and iron-loading complications. </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Tamary et al. (1996) concluded that the gene for CDA I is located on 15q15.1-q15.3. The locus for CDA III had been mapped to approximately the same region, 15q21, and the locus for CDA II to 20q11.2. Tamary et al. (1996) employed homozygosity linkage mapping to localize the genetic defect responsible for CDA type I in 4 large consanguineous Israeli Bedouin families with 24 affected patients. They reported linkage to markers on 15q15.1-q15.3; 3 markers yielded maximum lod scores ranging from 5.025 to 6.585 with values of theta ranging from 0.02 to 0.06. Informative crossover events identified by haplotype analysis narrowed the area containing the CDA I gene to approximately 5 cM within the region stated. They suggested that the site where the CDA III gene had been mapped was approximately 20 cM telomeric to the locus for CDA I. In the full report, Tamary et al. (1998) reported studies in 25 Bedouins from the 4 large consanguineous families. A founder haplotype was identified. Identification of historical crossover events further narrowed the gene location to between D15S779 and D15S778. The data suggested localization of the CDA I gene within a 0.5-cM interval. The founder mutation probably occurred at least 400 years earlier. The only known erythroid-specific gene mapped to this region was that for erythrocyte surface protein band 4.2 (EPB42; 177070). Sequence analysis of the coding region of the EPB42 gene revealed no mutations in the CDA I patients. </p>
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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 class="mim-text-font">
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<p>The transmission pattern of CDAN1A in the families reported by Dgany et al. (2002) was consistent with autosomal recessive inheritance. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Dgany et al. (2002) identified CDAN1, the gene responsible for CDA I, through the identification of 12 different mutations in 9 families with the disorder (e.g., 607465.0001). </p><p>In 15 of 16 CDA I patients analyzed, Heimpel et al. (2006) identified 17 different mutations in at least 1 allele of the CDAN1 gene. All but 1 of the mutations were located in exons 12 to 28; 1 mutation was found in exon 6. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>The R1042W mutation in the CDAN1 gene (607465.0001) is a founder mutation in the Bedouin population (Tamary et al., 2008). </p>
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</span>
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<div>
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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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Maeda et al. (1980); Vainchenker et al. (1980)
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</span>
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al-Fawaz, I. M., Al-Mashhadani, S. A.
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<strong>Congenital dyserythropoietic anaemia type I: report of two siblings from Saudi Arabia.</strong>
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Acta Haemat. 93: 50-53, 1995.
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[PubMed: 7725852]
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[Full Text: https://doi.org/10.1159/000204092]
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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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Arnaud, L., Saison, C., Helias, V., Lucien, N., Steschenko, D., Giarratana, M.-C., Prehu, C., Foliguet, B., Montout, L., de Brevern, A. G., Francina, A., Ripoche, P., and 11 others.
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<strong>A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.</strong>
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Am. J. Hum. Genet. 87: 721-727, 2010.
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[PubMed: 21055716]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.10.010]
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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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Benjamin, J. T., Rosse, W. F., Dalldorf, F. G., McMillan, C. W.
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<strong>Congenital dyserythropoietic anemia--type 4.</strong>
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J. Pediat. 87: 210-216, 1975.
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[PubMed: 1097617]
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[Full Text: https://doi.org/10.1016/s0022-3476(75)80581-6]
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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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Carter, C., Darbyshire, P. J., Wickramasinghe, S. N.
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<strong>A congenital dyserythropoietic anaemia variant presenting as hydrops foetalis.</strong>
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Brit. J. Haemat. 72: 289-290, 1989.
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[PubMed: 2757972]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1989.tb07699.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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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., and 13 others.
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<strong>Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.</strong>
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Am. J. Hum. Genet. 71: 1467-1474, 2002.
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[PubMed: 12434312]
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[Full Text: https://doi.org/10.1086/344781]
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</p>
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</li>
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<li>
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Facon, T., Mannessier, L., Lepelley, P., Weill, J., Fenaux, P., Dupriez, B., Morel, P., Jouet, J. P.
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<strong>Congenital diserythropoietic [sic] anemia type I: report on monozygotic twins with associated hemochromatosis and short stature.</strong>
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Blut 61: 248-250, 1990.
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[PubMed: 2224147]
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[Full Text: https://doi.org/10.1007/BF01744140]
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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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Heimpel, H., Schwarz, K., Ebnother, M., Goede, J. S., Heydrich, D., Kamp, T., Plaumann, L., Rath, B., Roessler, J., Schildknecht, O., Schmid, M., Wuillemin, W., Einsiedler, B., Leichtle, R., Tamary, H., Kohne, E.
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<strong>Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.</strong>
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Blood 107: 334-340, 2006.
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[PubMed: 16141353]
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[Full Text: https://doi.org/10.1182/blood-2005-01-0421]
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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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Heimpel, H.
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<strong>Congenital dyserythropoietic anaemia type I: clinical and experimental aspects. In: Porter, R.; Fitzsimons, D. W. (ed.): Congenital Disorders of Erythropoiesis (Ciba Symposium).</strong>
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Amsterdam: Elsevier (pub.) 1976.
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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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Kuribayashi, T., Uchida, S., Kuroume, T., Umegae, S., Omine, M., Maekawa, T.
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<strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan.</strong>
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Blut 39: 201-209, 1979.
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[PubMed: 476312]
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[Full Text: https://doi.org/10.1007/BF01008449]
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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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Lay, H. N., Pemberton, P. J., Hilton, H. B.
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<strong>Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice.</strong>
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Arch. Dis. Child. 53: 753-755, 1978.
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[PubMed: 718245]
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[Full Text: https://doi.org/10.1136/adc.53.9.753]
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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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Maeda, K., Saeed, S. M., Rebuck, J. W., Monto, R. W.
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<strong>Type I dyserythropoietic anemia: a 30-year follow-up.</strong>
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Am. J. Clin. Path. 73: 433-438, 1980.
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[PubMed: 7361726]
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[Full Text: https://doi.org/10.1093/ajcp/73.3.433]
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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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Mori, P. G., Favareto, F., Schenone, A., Molinari, A. C., Boeri, E., Massimo, L., Bandelloni, R., Sansone, G.
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<strong>Congenital dyserythropoietic anemia type I: report of a pair of siblings.</strong>
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Acta Haemat. 75: 219-223, 1986.
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[PubMed: 3096054]
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[Full Text: https://doi.org/10.1159/000206129]
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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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Parez, N., Dommergues, M., Zupan, V., Chambost, H., Fieschi, J. B., Delaunay, J., Mielot, F., Cramer, E. M., Dommergues, J.-P., Wickramasinghe, S. N., Tchernia, G.
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<strong>Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.</strong>
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Brit. J. Haemat. 110: 420-423, 2000.
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[PubMed: 10971401]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2000.02168.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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Shalev, H., Moser, A., Kapelushnik, J., Karplus, M., Zucker, N., Yaniv, I., Tamary, H.
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<strong>Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn.</strong>
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J. Pediat. 136: 553-555, 2000.
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[PubMed: 10753260]
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[Full Text: https://doi.org/10.1016/s0022-3476(00)90025-8]
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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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Tamary, H., Dgany, O., Proust, A., Krasnov, T., Avidan, N., Eidelitz-Markus, T., Tchernia, G., Genevieve, D., Cormier-Daire, V., Bader-Meunier, B., Ferrero-Vacher, C., Munzer, M., Gruppo, R., Fibach, E., Konen, O., Yaniv, I., Delaunay, J.
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<strong>Clinical and molecular variability in congenital dyserythropoietic anaemia type I.</strong>
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Brit. J. Haemat. 130: 628-634, 2005.
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[PubMed: 16098079]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2005.05642.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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Tamary, H., Shalev, H., Perez-Avraham, G., Zoldan, M., Levi, I., Swinkels, D. W., Tanno, T., Miller, J. L.
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<strong>Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I.</strong>
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Blood 112: 5241-5244, 2008.
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[PubMed: 18824595]
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[Full Text: https://doi.org/10.1182/blood-2008-06-165738]
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</p>
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<p class="mim-text-font">
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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Dobrushin, D., Ashkenazi, N., Zoldan, M., Resnitzky, P., Korostishevsky, M., Bonne-Tamir, B., Zaizov, R.
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<strong>Localization of the gene for congenital dyserythropoietic anemia type I to a less than 1-cM interval on chromosome 15q15.1-15.3.</strong>
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Tamary, H., Shalmon, L., Shalev, H., Halil, A., Shaft, D., Zoldan, M., Resnitzky, P., Korostishevky, M., Zaizov, R.
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Vainchenker, W., Guichard, J., Bouguet, J., Breton-Gorius, J.
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<strong>Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts.</strong>
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Wendt, F., Heimpel, H.
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<strong>Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar.</strong>
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Williams, G., Lorimer, S., Merry, C. C., Greenberg, C. R., Bishop, A. J.
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Zaki, M., Hassanein, A. A., Daoud, A. S., Al Saleh, Q.
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