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Entry
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- #105650 - DIAMOND-BLACKFAN ANEMIA 1; DBA1
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- OMIM
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<span class="h4">#105650</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/105650"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS105650"> <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="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<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 id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=DIAMOND-BLACKFAN ANEMIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=429&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK7047/" 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://www.diseaseinfosearch.org/x/9732" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=105650[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=124" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0f0f4629-715b-46b6-9a9d-d529cdbbcb42/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 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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</span>
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</span>
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</div>
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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:0111895" 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/105650" 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/OMIA000041/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111895" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 124<br />
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<strong>DO:</strong> 0111895<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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105650
|
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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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DIAMOND-BLACKFAN ANEMIA 1; DBA1
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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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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
DBA<br />
|
|
BLACKFAN-DIAMOND SYNDROME; BDS<br />
|
|
ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND<br />
|
|
ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC<br />
|
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RED CELL APLASIA, PURE, HEREDITARY<br />
|
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AREGENERATIVE ANEMIA, CHRONIC CONGENITAL<br />
|
|
ERYTHROGENESIS IMPERFECTA<br />
|
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AASE-SMITH SYNDROME II<br />
|
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AASE SYNDROME
|
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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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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<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 table-hover 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>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/741?start=-3&limit=10&highlight=741">
|
|
19q13.2
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Diamond-Blackfan anemia 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105650"> 105650 </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 dominant">AD</abbr>
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</span>
|
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</td>
|
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<td>
|
|
<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>
|
|
<span class="mim-font">
|
|
RPS19
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603474"> 603474 </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/105650" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS105650" 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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|
|
<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/105650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/105650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrauterine growth retardation, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840006&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840006</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008883</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
|
|
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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 /> -
|
|
Delayed closure of fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" 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 /> -
|
|
Retrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a>, <a href="https://bioportal.bioontology.org/search?q=C3494422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" 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 />
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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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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
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</div>
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
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Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" 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 /> -
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|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
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</span>
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|
</div>
|
|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Flat nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842876&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842876</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000457</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000457</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6177d3a4fab7cfab6ced65cf65caf77a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Ridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6177d3a4fab7cfab6ced65cf65caf77a" 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 />
|
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|
</span>
|
|
</div>
|
|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
|
|
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
|
|
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
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|
|
</span>
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|
</div>
|
|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Webbed neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11731003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11731003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000465</a>]</span><br /> -
|
|
Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" 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 />
|
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|
</span>
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|
</div>
|
|
</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> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
|
|
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarctation of the aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7305005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7305005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/747.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span><br /> -
|
|
Absent radial pulse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301165004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301165004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0577854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0577854</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
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|
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|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow shoulders <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 11 pairs of ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000878</a>]</span><br /> -
|
|
Clavicle agenesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/92964003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">92964003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345349</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> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Parietal foramina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718099006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718099006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29307005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29307005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11240000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11240000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0222706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0222706</a>, <a href="https://bioportal.bioontology.org/search?q=C1868598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bifid thoracic vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008437</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008437" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008437</a>]</span><br /> -
|
|
Hypoplastic sacral vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008475" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008475</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008475" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008475</a>]</span><br /> -
|
|
Hypoplastic coccygeal vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008447</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild radial hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751481</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93288001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93288001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205170001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205170001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002984" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002984</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Triphalangeal thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205308004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205308004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001199</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001199</a>]</span><br /> -
|
|
Bifid thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51219000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51219000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265608</a>]</span><br /> -
|
|
Hypoplastic thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253936008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253936008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009778</a>]</span><br /> -
|
|
Absent thumbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009777" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009777</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009777" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009777</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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<div>
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Skin </em>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
- Pallor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398979000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R23.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R23.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/782.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">782.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000980</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000980</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
</div>
|
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|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751483</a>]</span><br /> -
|
|
Reticulocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124961001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124961001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001896" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001896</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001896" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001896</a>]</span><br /> -
|
|
Neutropenia, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751484</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br /> -
|
|
Thrombocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6631009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6631009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.839</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0836924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0836924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span><br /> -
|
|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
|
|
Elevated fetal hemoglobin (HbF) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751485</a>]</span><br /> -
|
|
Presence of i erythrocyte antigen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751486</a>]</span><br /> -
|
|
Increased myeloid to erythroid ratio (M:E ratio) 10:1-200:1 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751487</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteogenic sarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163405004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163405004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/189878003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">189878003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</a>]</span><br /> -
|
|
Myelodysplastic syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109995007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109995007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128623006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128623006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D46.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D46.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/238.75" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">238.75</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463824</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002863" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002863</a>]</span><br /> -
|
|
Colon cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/269533000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">269533000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363510005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363510005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363406005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363406005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/153.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346629</a>, <a href="https://bioportal.bioontology.org/search?q=C0007102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007102</a>, <a href="https://bioportal.bioontology.org/search?q=C0699790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Delivery </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Premature birth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282020008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282020008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367494004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367494004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/644.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">644.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151526</a>, <a href="https://bioportal.bioontology.org/search?q=C2028283&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2028283</a>, <a href="https://bioportal.bioontology.org/search?q=C0233315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated erythrocyte adenosine deaminase (eADA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805346</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
|
Age at diagnosis 2-4 months<br /> -
|
|
40% patients have associated abnormalities<br /> -
|
|
Variable expressivity in families<br /> -
|
|
Most cases are sporadic<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ribosomal protein S19 gene (RPS19, <a href="/entry/603474#0001">603474.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Diamond-Blackfan anemia
|
|
- <a href="/phenotypicSeries/PS105650">PS105650</a>
|
|
- 21 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/275?start=-3&limit=10&highlight=275"> 1p36.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612562"> Diamond-Blackfan anemia 7 </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/612562"> 612562 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604175"> RPL11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604175"> 604175 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/804?start=-3&limit=10&highlight=804"> 1p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612561"> Diamond-Blackfan anemia 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612561"> 612561 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603634"> RPL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603634"> 603634 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1182?start=-3&limit=10&highlight=1182"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617409"> ?Diamond-Blackfan anemia 17 </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/617409"> 617409 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603702"> RPS27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603702"> 603702 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/20?start=-3&limit=10&highlight=20"> 2p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612563"> Diamond-Blackfan anemia 8 </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/612563"> 612563 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603658"> RPS7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603658"> 603658 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/121?start=-3&limit=10&highlight=121"> 3p24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615550"> Diamond-Blackfan anemia 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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/615550"> 615550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604174"> RPL15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604174"> 604174 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/1013?start=-3&limit=10&highlight=1013"> 3q29 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612528"> Diamond-Blackfan anemia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612528"> 612528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180468"> RPL35A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180468"> 180468 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/414?start=-3&limit=10&highlight=414"> 6p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613308"> Diamond-Blackfan anemia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613308"> 613308 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603632"> RPS10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603632"> 603632 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/1?start=-3&limit=10&highlight=1"> 8p23.3-p22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606129"> Diamond-Blackfan anemia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606129"> 606129 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606129"> DBA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606129"> 606129 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/494?start=-3&limit=10&highlight=494"> 9q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618312"> ?Diamond-Blackfan anemia 19 </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/618312"> 618312 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618315"> RPL35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618315"> 618315 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/328?start=-3&limit=10&highlight=328"> 10q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610629"> Diamond-blackfan anemia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610629"> 610629 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602412"> RPS24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602412"> 602412 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/494?start=-3&limit=10&highlight=494"> 12q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613309"> Diamond-Blackfan anemia 10 </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/613309"> 613309 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603701"> RPS26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603701"> 603701 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/204?start=-3&limit=10&highlight=204"> 14q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615909"> Diamond-Blackfan anemia 13 </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/615909"> 615909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603633"> RPS29 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603633"> 603633 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/453?start=-3&limit=10&highlight=453"> 15q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612527"> Diamond-Blackfan anemia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612527"> 612527 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180472"> RPS17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180472"> 180472 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/231?start=-3&limit=10&highlight=231"> 16p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618313"> ?Diamond-Blackfan anemia 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618313"> 618313 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603674"> RPS15A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603674"> 603674 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/423?start=-3&limit=10&highlight=423"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620072"> Diamond-Blackfan anemia 21 </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/620072"> 620072 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614951"> HEATR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614951"> 614951 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/209?start=-3&limit=10&highlight=209"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614900"> ?Diamond-Blackfan anemia 11 </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/614900"> 614900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603704"> RPL26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603704"> 603704 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/606?start=-3&limit=10&highlight=606"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617408"> ?Diamond-Blackfan anemia 16 </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/617408"> 617408 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607526"> RPL27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607526"> 607526 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/230?start=-3&limit=10&highlight=230"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606164"> Diamond Blackfan anemia 15 with mandibulofacial dysostosis </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/606164"> 606164 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603685"> RPS28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603685"> 603685 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/741?start=-3&limit=10&highlight=741"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105650"> Diamond-Blackfan anemia 1 </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/105650"> 105650 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603474"> RPS19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603474"> 603474 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/902?start=-3&limit=10&highlight=902"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618310"> ?Diamond-Blackfan anemia 18 </a>
|
|
</span>
|
|
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<p>A number sign (#) is used with this entry because Diamond-Blackfan anemia-1 (DBA1) is caused by heterozygous mutation in the gene encoding ribosomal protein S19 (RPS19; <a href="/entry/603474">603474</a>) on chromosome 19q13.</p>
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<p>Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by <a href="#44" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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 Diamond-Blackfan Anemia</em></strong></p><p>
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A locus for DBA (DBA2; <a href="/entry/606129">606129</a>) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (<a href="/entry/610629">610629</a>), caused by mutation in the RPS24 gene (<a href="/entry/602412">602412</a>) on 10q22; DBA4 (<a href="/entry/612527">612527</a>), caused by mutation in the RPS17 gene (<a href="/entry/180472">180472</a>) on 15q25; DBA5 (<a href="/entry/612528">612528</a>), caused by mutation in the RPL35A gene (<a href="/entry/180468">180468</a>) on 3q29; DBA6 (<a href="/entry/612561">612561</a>), caused by mutation in the RPL5 gene (<a href="/entry/603634">603634</a>) on 1p22; DBA7 (<a href="/entry/612562">612562</a>), caused by mutation in the RPL11 gene (<a href="/entry/604175">604175</a>) on 1p36; DBA8 (<a href="/entry/612563">612563</a>), caused by mutation in the RPS7 gene (<a href="/entry/603658">603658</a>) on 2p25; DBA9 (<a href="/entry/613308">613308</a>), caused by mutation in the RPS10 gene (<a href="/entry/603632">603632</a>) on 6p21; DBA10 (<a href="/entry/613309">613309</a>), caused by mutation in the RPS26 (<a href="/entry/603701">603701</a>) gene on 12q13; DBA11 (<a href="/entry/614900">614900</a>), caused by mutation in the RPL26 gene (<a href="/entry/603704">603704</a>) on 17p13; DBA12 (<a href="/entry/615550">615550</a>), caused by mutation in the RPL15 gene (<a href="/entry/604174">604174</a>) on 3p24; DBA13 (<a href="/entry/615909">615909</a>), caused by mutation in the RPS29 gene (<a href="/entry/603633">603633</a>) on 14q21; DBA14 (<a href="/entry/300946">300946</a>), caused by mutation in the TSR2 gene (<a href="/entry/300945">300945</a>) on Xp11; DBA15 (<a href="/entry/606164">606164</a>), caused by mutation in the RPS28 gene (<a href="/entry/603685">603685</a>) on 19p13; DBA16 (<a href="/entry/617408">617408</a>), caused by mutation in the RPL27 gene (<a href="/entry/607526">607526</a>) on 17q21; DBA17 (<a href="/entry/617409">617409</a>), caused by mutation in the RPS27 gene (<a href="/entry/603702">603702</a>) on 1q21; DBA18 (<a href="/entry/618310">618310</a>), caused by mutation in the RPL18 gene (<a href="/entry/604179">604179</a>) on 19q13; DBA19 (<a href="/entry/618312">618312</a>), caused by mutation in the RPL35 gene (<a href="/entry/618315">618315</a>) on 9q33; DBA20 (<a href="/entry/618313">618313</a>), caused by mutation in the RPS15A gene (<a href="/entry/603674">603674</a>) on 16p12; and DBA21 (<a href="/entry/620072">620072</a>), caused by mutation in the HEATR3 gene (<a href="/entry/614951">614951</a>) on 16q12.</p>
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<p><a href="#13" class="mim-tip-reference" title="Diamond, L. K., Allen, D. W., Magill, F. B. <strong>Congenital (erythroid) hypoplastic anemia: a 25 year study.</strong> Am. J. Dis. Child. 102: 403-415, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13722603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13722603</a>] [<a href="https://doi.org/10.1001/archpedi.1961.02080010405019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13722603">Diamond et al. (1961)</a> observed triphalangeal thumbs in 1 of 30 patients with congenital erythroid hypoplastic anemia. <a href="#2" class="mim-tip-reference" title="Alter, B. P. <strong>Thumbs and anemia.</strong> Pediatrics 62: 613-614, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714597</a>]" pmid="714597">Alter (1978)</a> pointed out that triphalangeal thumbs occurred in 6 of 133 cases of congenital hypoplastic anemia. In all, 45 of the 133 cases (34%) had associated hand anomalies of some kind. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=714597+13722603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Cathie, I. A. B. <strong>Erythrogenesis imperfecta.</strong> Arch. Dis. Child. 25: 313-324, 1950.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14790824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14790824</a>] [<a href="https://doi.org/10.1136/adc.25.124.313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14790824">Cathie (1950)</a> described a similar facial appearance in 4 unrelated affected children with erythrogenesis imperfecta, including snub noses, thick upper lips, and widely separated eyes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14790824" 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 propensity for the development of leukemia has been reported (<a href="#43" class="mim-tip-reference" title="Krishnan, E. U., Wegner, K., Garg, S. K. <strong>Congenital hypoplastic anemia terminating in acute promyelocytic leukemia.</strong> Pediatrics 61: 898-901, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/276838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">276838</a>]" pmid="276838">Krishnan et al., 1978</a>; <a href="#66" class="mim-tip-reference" title="Wasser, J. S., Yolken, R., Miller, D. R., Diamond, L. <strong>Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia.</strong> Blood 51: 991-995, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/273451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">273451</a>]" pmid="273451">Wasser et al., 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=273451+276838" 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="Ball, S. E., McGuckin, C. P., Jenkins, G., Gordon-Smith, E. C. <strong>Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.</strong> Brit. J. Haemat. 94: 645-653, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826887</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1996.d01-1839.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826887">Ball et al. (1996)</a> analyzed retrospective data from 80 cases of DBA (33 male, 47 female) born in the U.K. in a 20-year period (1975-1994), representing an annual incidence of 5 per million live births. Ten children from 7 families had an apparently familial disorder. Thirteen percent were anemic at birth, and 72.5% had presented by the age of 3 months. Sixty-seven percent had macrocytosis at presentation, 72% responded initially to steroids, and at the time of study, 61% were transfusion-dependent, 45% were steroid-dependent, and 39% required regular transfusions. Unequivocal physical anomalies, predominantly craniofacial, were present in 37%, and were more likely in boys (52%) than girls (25%). Eighteen percent had thumb anomalies. Height was below the 3rd centile for age in 28%; 31% had neither short stature nor physical anomalies. In 4 children without physical abnormalities, red cell indices were normal and steroid-independent remission was achieved, suggesting transient erythroblastopenia of childhood (<a href="/entry/227050">227050</a>) rather than DBA. The birth month distribution of children with sporadic DBA and craniofacial dysmorphism suggested a possible seasonality, consistent with a viral etiology. In the familial cases, affected males had unequivocal anomalies, whereas females had only short stature or equivocal anomalies. In 3 families, 2 generations were affected; in 1 family, 3 generations were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8826887" 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="#68" class="mim-tip-reference" title="Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. <strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong> Blood 94: 4294-4306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>]" pmid="10590074">Willig et al. (1999)</a> reported 42 probands with DBA caused by mutation in the RPS19 gene. The mean age at presentation was 2 months, and approximately 40% had associated physical anomalies, including triphalangeal thumb, duplication of thumb, short stature, ventricular septal defects, kidney hypoplasia, low hairline, and congenital glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" 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>Clinical Variability</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Anur, P., Nemecek, E. R., Kurre, P. <strong>The evolving spectrum of 'non-classical' Diamond-Blackfan anaemia - a case of eADA positive pancytopenia in a young adult. (Letter)</strong> Brit. J. Haemat. 145: 428-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208100</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2009.07590.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208100">Anur et al. (2009)</a> reported a patient with nonclassical Diamond-Blackfan anemia. She presented at age 17 years with progressive pancytopenia and bone marrow hypoplasia diagnosed after nausea and vomiting following outpatient surgery for correction of a flexion contracture of the finger. She became transfusion-dependent and the disorder was steroid-resistant. Erythrocyte adenosine deaminase was increased, consistent with the diagnosis. She underwent bone marrow transplantation, but died of complications. Molecular studies were not performed on this patient. <a href="#4" class="mim-tip-reference" title="Anur, P., Nemecek, E. R., Kurre, P. <strong>The evolving spectrum of 'non-classical' Diamond-Blackfan anaemia - a case of eADA positive pancytopenia in a young adult. (Letter)</strong> Brit. J. Haemat. 145: 428-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208100</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2009.07590.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208100">Anur et al. (2009)</a> emphasized the unusual and late clinical presentation of DBA in this patient, who had rapidly progressive aplastic anemia and did not show typical physical stigmata of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19208100" 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="#68" class="mim-tip-reference" title="Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. <strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong> Blood 94: 4294-4306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>]" pmid="10590074">Willig et al. (1999)</a> stated that although the majority of DBA cases are sporadic, approximately 10 to 25% are familial, with most showing autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" 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="#25" class="mim-tip-reference" title="Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H. <strong>Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia.</strong> Hum. Mutat. 33: 1037-1044, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22431104[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/10.1002/humu.22081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22431104">Gazda et al. (2012)</a> stated that approximately 40 to 50% of DBA cases are familial and show autosomal and commonly dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22431104" 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>Familial cases of congenital erythroid hypoplastic anemia were reported by <a href="#8" class="mim-tip-reference" title="Burgert, E. O., Jr., Kennedy, R. L. J., Pease, G. L. <strong>Congenital hypoplastic anemia.</strong> Pediatrics 13: 218-226, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13155070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13155070</a>]" pmid="13155070">Burgert et al. (1954)</a> and by <a href="#13" class="mim-tip-reference" title="Diamond, L. K., Allen, D. W., Magill, F. B. <strong>Congenital (erythroid) hypoplastic anemia: a 25 year study.</strong> Am. J. Dis. Child. 102: 403-415, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13722603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13722603</a>] [<a href="https://doi.org/10.1001/archpedi.1961.02080010405019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13722603">Diamond et al. (1961)</a>. <a href="#63" class="mim-tip-reference" title="Wallman, I. S. <strong>Hereditary red cell aplasia.</strong> Med. J. Aust. 43: 488-490, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13368831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13368831</a>] [<a href="https://doi.org/10.5694/j.1326-5377.1956.tb56915.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13368831">Wallman (1956)</a> described a father and daughter with erythroid hypoplasia, but the ages of onset (34 and 6 years, respectively) were beyond the usual limits of the Diamond-Blackfan syndrome. <a href="#21" class="mim-tip-reference" title="Forare, S. A. <strong>Pure red cell anemia in step siblings.</strong> Acta Paediat. (Stockh.) 52: 159-160, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13958671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13958671</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1963.tb03758.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13958671">Forare (1963)</a> observed affected brother and sister with the same father but different mothers. Although he referred to them as 'step-sibs,' they are actually half-sibs. <a href="#49" class="mim-tip-reference" title="Mott, M. G., Apley, J., Raper, A. B. <strong>Congenital (erythroid) hypoplastic anaemia: modified expression in males.</strong> Arch. Dis. Child. 44: 757-760, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5356983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5356983</a>] [<a href="https://doi.org/10.1136/adc.44.238.757" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5356983">Mott et al. (1969)</a> reported a similar situation of 3 affected children from 2 mothers and the same father. <a href="#19" class="mim-tip-reference" title="Falter, M. L., Robinson, M. G. <strong>Autosomal dominant inheritance and amino aciduria in Blackfan-Diamond anemia.</strong> J. Med. Genet. 9: 64-66, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025485</a>] [<a href="https://doi.org/10.1136/jmg.9.1.64" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5025485">Falter and Robinson (1972)</a> described affected mother and daughter. Only the mother had aminoaciduria, suggesting that it was unrelated to the hematologic disorder. <a href="#45" class="mim-tip-reference" title="Lawton, J. W. M., Aldrich, J. E., Turner, T. L. <strong>Congenital erythroid hypoplastic anemia: autosomal dominant transmission.</strong> Scand. J. Haemat. 13: 276-280, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4445826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4445826</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1974.tb00270.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4445826">Lawton et al. (1974)</a> described father and son with documented erythroid anemia from infancy. The father's anemia remitted at age 6 years, but he continued to have macrocytosis, reticulocytosis, and raised fetal hemoglobin. <a href="#35" class="mim-tip-reference" title="Hamilton, P. J., Dawson, A. A., Galloway, W. H. <strong>Congenital erythroid hypoplastic anaemia in mother and daughter.</strong> Arch. Dis. Child. 49: 71-73, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4818099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4818099</a>] [<a href="https://doi.org/10.1136/adc.49.1.71" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4818099">Hamilton et al. (1974)</a> described affected mother and daughter. Other families with possible autosomal dominant transmission were reported by <a href="#38" class="mim-tip-reference" title="Hunter, R. E., Hakami, N. <strong>The occurrence of congenital hypoplastic anemia in half brothers.</strong> J. Pediat. 81: 346-348, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5042496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5042496</a>] [<a href="https://doi.org/10.1016/s0022-3476(72)80309-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5042496">Hunter and Hakami (1972)</a>, <a href="#65" class="mim-tip-reference" title="Wang, W. C., Mentzer, W., Alter, B. <strong>Congenital hypoplastic anemia: Diamond-Blackfan syndrome: comments and additional data on clinical aspects of Diamond-Blackfan syndrome.</strong> Blood Cells 4: 215-218, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/747771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">747771</a>]" pmid="747771">Wang et al. (1978)</a>, and <a href="#30" class="mim-tip-reference" title="Gray, P. <strong>Pure red-cell aplasia.</strong> Med. J. Aust. 1: 519-521, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6178949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6178949</a>] [<a href="https://doi.org/10.5694/j.1326-5377.1982.tb124149.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6178949">Gray (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5025485+13958671+4818099+13722603+13368831+6178949+4445826+5356983+5042496+747771+13155070" 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="#57" class="mim-tip-reference" title="Sensenbrenner, J. A. <strong>Congenital hypoplastic anemia of Blackfan and Diamond in sibs.</strong> Birth Defects Orig. Art. Ser. 8(3): 166-170, 1972."None>Sensenbrenner (1972)</a> described affected brother and sister. Pallor was first noted in the male at age 4 months and heart failure from anemia occurred at 10 months. Prednisone effectively controlled the anemia, but the brother developed aseptic necrosis of the left hip. Both patients had height below the 3rd percentile; at age 16, the brother was 147 cm tall, and at age 11, the sister was 127 cm tall. Both patients showed appropriate sexual maturation.</p><p><a href="#62" class="mim-tip-reference" title="Viskochil, D. H., Carey, J. C., Glader, B. E., Rothstein, G., Christensen, R. D. <strong>Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred.</strong> Am. J. Med. Genet. 35: 251-256, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309764</a>] [<a href="https://doi.org/10.1002/ajmg.1320350221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2309764">Viskochil et al. (1990)</a> reported a kindred with 7 affected members in 4 sibships spanning 3 generations, with several instances of male-to-male transmission. <a href="#39" class="mim-tip-reference" title="Hurst, J. A., Baraitser, M., Wonke, B. <strong>Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities.</strong> Am. J. Med. Genet. 40: 482-484, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746615</a>] [<a href="https://doi.org/10.1002/ajmg.1320400422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746615">Hurst et al. (1991)</a> described a mother and son with congenital erythroid hypoplastic anemia; the son had a right radial club hand with absent thumb and conjoined radius and ulna on the right with small, useless thumb on the left. <a href="#29" class="mim-tip-reference" title="Gojic, V., van't Veer-Korthof, E. T., Bosch, L. J., Puyn, W. H., van Haeringen, A. <strong>Congenital hypoplastic anemia: another example of autosomal dominant transmission.</strong> Am. J. Med. Genet. 50: 87-89, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8160759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8160759</a>] [<a href="https://doi.org/10.1002/ajmg.1320500119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8160759">Gojic et al. (1994)</a> reported a family in which 4 males in 3 successive generations had congenital hypoplastic anemia. None of these individuals had malformations; specifically, the thumbs and radii were normal. Two brothers were of short stature: 162 and 156 cm. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1746615+8160759+2309764" 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>Of 6 pedigrees presented by <a href="#33" class="mim-tip-reference" title="Gustavsson, P., Willig, T.-N., van Haeringen, A., Tchernia, G., Dianzani, I., Donner, M., Elinder, G., Henter, J.-I., Nilsson, P.-G., Gordon, L., Skeppner, G., van't Veer-Korthof, L., Kreuger, A., Dahl, N. <strong>Diamond-Blackfan anaemia: genetic heterogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.</strong> Nature Genet. 16: 368-371, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241274</a>] [<a href="https://doi.org/10.1038/ng0897-368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241274">Gustavsson et al. (1997)</a>, 2 families suggested autosomal recessive inheritance, and 4 families showed dominant inheritance with variable expressivity. In 1 family, the disease was evident in 3 generations with 2 instances of male-to-male transmission. In 2 families, the mother showed a mild anemia. In a fourth family, no phenotype was detected in the parents but the segregation of haplotypes indicated dominant inheritance from the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9241274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 38 multiplex families with DBA collected from multiple geographic areas, <a href="#22" class="mim-tip-reference" title="Gazda, H., Lipton, J. M., Willig, T.-N., Ball, S., Niemeyer, C. M., Tchernia, G., Mohandas, N., Daly, M. J., Ploszynska, A., Orfali, K. A., Vlachos, A., Glader, B. E., Rokicka-Milewska, R., Ohara, A., Baker, D., Pospisilova, D., Webber, A., Viskochil, D. H., Nathan, D. G., Beggs, A. H., Sieff, C. A. <strong>Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.</strong> Blood 97: 2145-2150, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11264183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11264183</a>] [<a href="https://doi.org/10.1182/blood.v97.7.2145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11264183">Gazda et al. (2001)</a> found a pedigree pattern consistent with autosomal dominant inheritance in all but 3. The 3 exceptions were small pedigrees consisting of 2 affected children and unaffected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11264183" 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>Using custom enrichment technology combined with high-throughput sequencing of 80 ribosomal protein genes, <a href="#27" class="mim-tip-reference" title="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> identified and validated inactivating mutations in samples from 15 (88%) of 17 patients with Diamond-Blackfan anemia. Mutations in 8 different genes were identified; the most commonly affected gene in this cohort was RPL5 (<a href="/entry/603634">603634</a>), found in 5 patients, including an affected mother and daughter. The results indicated that this methodology is efficient for diagnosing the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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>Prenatal Diagnosis</em></strong></p><p>
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<a href="#47" class="mim-tip-reference" title="McLennan, A. C., Chitty, L. S., Rissik, J., Maxwell, D. J. <strong>Prenatal diagnosis of Blackfan-Diamond syndrome: case report and review of the literature.</strong> Prenatal Diag. 16: 349-353, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8734811</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8734811">McLennan et al. (1996)</a> made the prenatal diagnosis of congenital hypoplastic anemia causing hydrops fetalis in a child born to a 26-year-old woman with steroid-dependent Blackfan-Diamond syndrome. The diagnosis of BDS had been made in the mother at the age of 2 years following investigation of short stature and failure to thrive. From the age of 4 years, she had been treated with steroids, titrated to maintain a hemoglobin level between 7 and 8.5 g/dl. There was no relevant family history. Her first pregnancy ended in a spontaneous abortion at 8 weeks. In the second pregnancy, failure to visualize cardiac structures adequately at 22 weeks led to referral to a tertiary center. Cardiomegaly and a small pericardial effusion with structurally normal heart were demonstrated. By 33 weeks, the mother developed severe ascites and enlargement of the heart, which occupied nearly the entire chest. Cordocentesis at that time confirmed severe fetal anemia, and transfusion of packed red cells was undertaken. The infant was delivered by cesarean section at 34 weeks. No physical anomalies were found except for proximal and superior displacement of the first metatarsophalangeal joint of an otherwise normal left great toe. Mild cardiac failure had resolved by day 14. Bone marrow at 3 months of age showed a cellular marrow with normal megakaryocytes and myeloid differentiation but virtual absence of red cell precursors. Prednisolone was introduced at that stage without any significant response over the next 2 months. At 14 months of age, the baby was being managed with intermittent transfusions and continued steroid administration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8734811" 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="#55" class="mim-tip-reference" title="Pfeiffer, R. A., Ambs, E. <strong>Das Aase-Syndrom: autosomal-rezessiv vererbte, konnatal insuffiziente Erythropoese und Triphalangie der Daumen.</strong> Mschr. Kinderheilk. 131: 235-237, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865981</a>]" pmid="6865981">Pfeiffer and Ambs (1983)</a> reported a patient in whom, as in other reported patients, treatment with prednisone was effective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6865981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 out of 6 patients, <a href="#17" class="mim-tip-reference" title="Dunbar, C. E., Smith, D. A., Kimball, J., Garrison, L., Nienhuis, A. W., Young, N. S. <strong>Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3.</strong> Brit. J. Haemat. 79: 316-321, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1958491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1958491</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1991.tb04540.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1958491">Dunbar et al. (1991)</a> observed sustained remission following treatment with interleukin-3 (IL3; <a href="/entry/147740">147740</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1958491" 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="#69" class="mim-tip-reference" title="Willig, T.-N., Niemeyer, C. M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J. L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S, Guillard, J. M., Mohandas, N., Tchernia, G. <strong>Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients.</strong> Pediat. Res. 46: 553-561, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541318</a>] [<a href="https://doi.org/10.1203/00006450-199911000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541318">Willig et al. (1999)</a> assembled a registry of 229 DBA patients, including 151 from France, 70 from Germany, and 8 from other countries. Of 222 available for long-term follow-up analysis, 62.6% initially responded to steroid therapy. Initial steroid responsiveness was significantly and independently associated with older age at presentation, family history of DBA, and normal platelet count at the time of diagnosis. Severe evolution of the disease, transfusion dependence or death, was significantly and independently associated with a younger age at presentation and with a history of premature birth. In contrast, patients with a family history of the disease experienced a better outcome. The authors found that reassessing steroid responsiveness during the course of the disease for initially nonresponsive patients was useful. Bone marrow transplantation was successful in 11 of 13 cases. They suggested that HLA typing of probands and sibs should be performed early if patients are transfusion-dependent, and cord blood should be preserved. In families with dominant inheritance, no parental imprinting effect or anticipation phenomenon could be demonstrated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541318" 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="#52" class="mim-tip-reference" title="Nathan, D. G., Clarke, B. J., Hillman, D. G., Alter, B. P., Housman, D. E. <strong>Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia.</strong> J. Clin. Invest. 61: 489-498, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/621285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">621285</a>] [<a href="https://doi.org/10.1172/JCI108960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="621285">Nathan et al. (1978)</a> suggested that Diamond-Blackfan anemia may be a 'congenital abnormality of erythropoietin (EPO; <a href="/entry/133170">133170</a>) responsiveness that causes a functional, if not absolute, deficiency of erythroid precursors.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=621285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Halperin, D. S., Freedman, M. H. <strong>Diamond-Blackfan anemia: etiology, pathophysiology, and treatment.</strong> Am. J. Pediat. Hemat. Oncol. 11: 380-394, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2694854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2694854</a>]" pmid="2694854">Halperin and Freedman (1989)</a> noted that erythroid stem cells in DBA are partly or completely refractory to EPO. However, they noted that patients have normal EPO structure and no anti-EPO antibodies, suggesting that there may be an abnormality in EPO receptor expression, EPO binding, or EPO signal transduction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2694854" 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="#28" class="mim-tip-reference" title="Glader, B. E., Backer, K., Diamond, L. K. <strong>Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.</strong> New Eng. J. Med. 309: 1486-1490, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6646173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6646173</a>] [<a href="https://doi.org/10.1056/NEJM198312153092404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6646173">Glader et al. (1983)</a> found increased adenosine deaminase (ADA; <a href="/entry/608958">608958</a>) activity in red cells of patients with DBS. <a href="#67" class="mim-tip-reference" title="Whitehouse, D. B., Hopkinson, D. A., Evans, D. I. K. <strong>Adenosine deaminase activity in Diamond-Blackfan syndrome. (Letter)</strong> Lancet 324: 1398-1399, 1984. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6150395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6150395</a>] [<a href="https://doi.org/10.1016/s0140-6736(84)92092-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6150395">Whitehouse et al. (1984)</a> found heterogeneity in DBS with respect to erythrocyte ADA activity and concluded that increased ADA activity was not limited to erythroid cells. Two sibs in 1 family showed increased red cell ADA activity over 4 months of multiple blood sampling. Both patients had the ADA 2-1 electrophoretic pattern and both allelozymes showed hyperactivity, indicating that there was not a mutation at the ADA locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6150395+6646173" 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="Abkowitz, J. L., Sabo, K. M., Nakamoto, B., Blau, C. A., Martin, F. H., Zsebo, K. M., Papayannopoulou, T. <strong>Diamond-Blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit.</strong> Blood 78: 2198-2202, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1718487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1718487</a>]" pmid="1718487">Abkowitz et al. (1991)</a> cultured marrow and blood mononuclear cells from 10 Diamond-Blackfan patients with various hematopoietic growth factors in the presence or absence of stem cell factor (SCF; mast cell growth factor; Steel factor; SF; <a href="/entry/184745">184745</a>). Because of erythroid bursts observed in cultures containing SCF, the authors speculated that the SCF axis may be involved in the pathogenesis of Diamond-Blackfan anemia, and suggested that a therapeutic trial of SCF in patients would be worthwhile. Similar results were obtained by <a href="#5" class="mim-tip-reference" title="Bagnara, G. P., Zauli, G., Vitale, L., Rosito, P., Vecchi, V., Paolucci, G., Avanzi, G. C., Ramenghi, U., Timeus, F., Gabutti, V. <strong>In vitro growth and regulation of bone marrow enriched CD34(+) hematopoietic progenitors in Diamond-Blackfan anemia.</strong> Blood 78: 2203-2210, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1718488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1718488</a>]" pmid="1718488">Bagnara et al. (1991)</a> and by <a href="#10" class="mim-tip-reference" title="Carow, C. E., Hangoc, G., Cooper, S. H., Williams, D. E., Broxmeyer, H. E. <strong>Mast cell growth factor (c-kit ligand) supports the growth of human multipotential progenitor cells with a high replating potential.</strong> Blood 78: 2216-2221, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1718490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1718490</a>]" pmid="1718490">Carow et al. (1991)</a>. <a href="#58" class="mim-tip-reference" title="Sieff, C. A., Yokoyama, C. T., Zsebo, K. M., Trammell, J., Andersen, J. W., Nathan, D. G., Williams, D. A. <strong>The production of Steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of Steel factor with erythropoietin and interleukin-3.</strong> Brit. J. Haemat. 82: 640-647, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1282827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1282827</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1992.tb06938.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1282827">Sieff et al. (1992)</a> investigated whether DBA was due to hyporesponsiveness to or hypoproduction of Steel factor. By studying long-term bone marrow cultures, they found that the DBA patients studied responded to SCF and produced SCF mRNA normally, indicating that SCF itself was not involved in DBA pathophysiology. <a href="#53" class="mim-tip-reference" title="Olivieri, N. F., Grunberger, T., Ben-David, Y., Ng, J., Williams, D. E., Lyman, S., Anderson, D. M., Axelrad, A. A., Correa, P., Bernstein, A., Freedman, M. H. <strong>Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the Steel locus.</strong> Blood 78: 2211-2215, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1718489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1718489</a>]" pmid="1718489">Olivieri et al. (1991)</a> found no gross abnormalities in the structure of either stem cell factor or its tyrosine kinase receptor (KIT; <a href="/entry/164920">164920</a>) in 10 DBA patients. <a href="#59" class="mim-tip-reference" title="Spritz, R. A., Freedman, M. H. <strong>Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia. (Letter)</strong> Blood 81: 3165, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7684626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7684626</a>]" pmid="7684626">Spritz and Freedman (1993)</a> found no mutations in either the SCF or KIT genes in patients with DBA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1282827+1718490+1718489+7684626+1718487+1718488" 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="Dianzani, I., Garelli, E., Dompe, C., Crescenzio, N., Locatelli, F., Schiliro, G., Castaman, G., Bagnara, G. P., Olivieri, N. F., Gabutti, V., Ramenghi, U. <strong>Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.</strong> Blood 87: 2568-2572, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630424</a>]" pmid="8630424">Dianzani et al. (1996)</a> stated that there was neither molecular nor clinical evidence for the involvement of stem cell factor or interleukin-3 (IL3; <a href="/entry/147740">147740</a>) in the pathogenesis of DBA. <a href="#15" class="mim-tip-reference" title="Dianzani, I., Garelli, E., Dompe, C., Crescenzio, N., Locatelli, F., Schiliro, G., Castaman, G., Bagnara, G. P., Olivieri, N. F., Gabutti, V., Ramenghi, U. <strong>Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.</strong> Blood 87: 2568-2572, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630424</a>]" pmid="8630424">Dianzani et al. (1996)</a> also found no abnormality of the coding sequence of the EPOR gene (<a href="/entry/133171">133171</a>) in 23 DBA patients using SSCP. A Southern blot hybridization with an EPOR probe was negative in 7 patients. Furthermore, linkage studies showed that the disorder did not segregate with the EPOR gene in 2 informative DBA families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using gene expression profiling, <a href="#24" class="mim-tip-reference" title="Gazda, H. T., Kho, A. T., Sanoudou, D., Zaucha, J. M., Kohane, I. S., Sieff, C. A., Beggs, A. H. <strong>Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.</strong> Stem Cells 24: 2034-2044, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16741228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16741228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16741228[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/10.1634/stemcells.2005-0554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16741228">Gazda et al. (2006)</a> found that erythroid precursors of 3 patients with RPS19-association DBA in remission showed downregulation of multiple ribosomal protein genes, as well as downregulation of genes involved in transcription and translation compared to cells from 6 control individuals. DBA cells also showed upregulation of several proapoptotic genes, including TNFRSF10B (<a href="/entry/603612">603612</a>) and TNFRSF6 (<a href="/entry/134637">134637</a>). In addition, DBA cells showed downregulation of MYB (<a href="/entry/189990">189990</a>) and changes in expression of other cancer-related genes. Some of these changes were validated by RT-PCR studies. <a href="#24" class="mim-tip-reference" title="Gazda, H. T., Kho, A. T., Sanoudou, D., Zaucha, J. M., Kohane, I. S., Sieff, C. A., Beggs, A. H. <strong>Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.</strong> Stem Cells 24: 2034-2044, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16741228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16741228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16741228[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/10.1634/stemcells.2005-0554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16741228">Gazda et al. (2006)</a> concluded that DBA results from impaired ribosome biogenesis and decreased protein translation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16741228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using small interfering RNA (siRNA), <a href="#20" class="mim-tip-reference" title="Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R. <strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong> Blood 109: 980-986, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16990592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16990592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16990592[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-2006-07-038232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16990592">Flygare et al. (2007)</a> showed that reduced expression of RPS19 in a human erythroleukemia cell line led to a defect in maturation of the 40S ribosomal subunits, affected erythroid differentiation, and increased apoptosis. Cells expressing siRNA targeting RPS19 failed to efficiently cleave 21S pre-rRNAs at the E site within internal transcribed sequence-1, which would normally lead to formation of the mature 3-prime end of the 18S rRNA. CD34 (<a href="/entry/142230">142230</a>)-negative and CD34-positive bone marrow cells from DBA patients with mutations in RPS19 showed an increased ratio of 21S to 18SE pre-rRNA compared with healthy controls, and the defect was more pronounced in CD34-negative patient cells. The findings indicated that RPS19 is required for efficient maturation of 40S ribosomal subunits. The results showed that cells from patients with DFA have a defect in pre-rRNA processing, and <a href="#20" class="mim-tip-reference" title="Flygare, J., Aspesi, A., Bailey, J. C., Miyake, K., Caffrey, J. M., Karlsson, S., Ellis, S. R. <strong>Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.</strong> Blood 109: 980-986, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16990592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16990592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16990592[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-2006-07-038232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16990592">Flygare et al. (2007)</a> concluded that the disorder results from defects in ribosome synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16990592" 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="Calo, E., Gu, B., Bowen, M. E., Aryan F., Zalc, A., Liang, J., Flynn, R. A., Swigut, T., Chang, H. Y., Attardi, L. D., Wysocka, J. <strong>Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.</strong> Nature 554: 112-117, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29364875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29364875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29364875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature25449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29364875">Calo et al. (2018)</a> showed that ribosomal gene perturbations associated with Diamond-Blackfan anemia disrupted DDX21 (<a href="/entry/606357">606357</a>) localization. At the molecular level, <a href="#9" class="mim-tip-reference" title="Calo, E., Gu, B., Bowen, M. E., Aryan F., Zalc, A., Liang, J., Flynn, R. A., Swigut, T., Chang, H. Y., Attardi, L. D., Wysocka, J. <strong>Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.</strong> Nature 554: 112-117, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29364875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29364875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29364875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature25449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29364875">Calo et al. (2018)</a> demonstrated that impaired rRNA synthesis elicits a DNA damage response, and that ribosomal DNA damage results in tissue-selective and dosage-dependent effects on craniofacial development. <a href="#9" class="mim-tip-reference" title="Calo, E., Gu, B., Bowen, M. E., Aryan F., Zalc, A., Liang, J., Flynn, R. A., Swigut, T., Chang, H. Y., Attardi, L. D., Wysocka, J. <strong>Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.</strong> Nature 554: 112-117, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29364875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29364875</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29364875[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature25449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29364875">Calo et al. (2018)</a> concluded that these and other findings illustrated how disruption in general regulators that compromise nucleolar homeostasis can result in tissue-selective malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29364875" 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="#32" class="mim-tip-reference" title="Gustavsson, P., Skeppner, G., Johansson, B., Berg, T., Gordon, L., Kreuger, A., Dahl, N. <strong>Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.</strong> J. Med. Genet. 34: 779-782, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9321770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9321770</a>] [<a href="https://doi.org/10.1136/jmg.34.9.779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9321770">Gustavsson et al. (1997)</a> reported a female patient with a de novo balanced translocation t(X;19)(p21;q13) who presented with constitutional erythroblastopenia as well as short stature and left kidney hypoplasia. By analysis of 26 families with DBA, <a href="#33" class="mim-tip-reference" title="Gustavsson, P., Willig, T.-N., van Haeringen, A., Tchernia, G., Dianzani, I., Donner, M., Elinder, G., Henter, J.-I., Nilsson, P.-G., Gordon, L., Skeppner, G., van't Veer-Korthof, L., Kreuger, A., Dahl, N. <strong>Diamond-Blackfan anaemia: genetic heterogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.</strong> Nature Genet. 16: 368-371, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241274</a>] [<a href="https://doi.org/10.1038/ng0897-368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241274">Gustavsson et al. (1997)</a> found linkage to chromosome 19q13 with a peak lod score at D19S197 (maximum lod = 7.08, theta = 0.00). Within this region, a submicroscopic de novo deletion of 3.3 Mb was identified in a patient with DBA. The deletion coincided with the translocation breakpoint observed in the patient mentioned earlier and, together with key recombinations, restricted the DBA gene to a 1.8-Mb region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9241274+9321770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using polymorphic 19q13 markers, including a short-tandem repeat in the critical DBA locus region, <a href="#31" class="mim-tip-reference" title="Gustavsson, P., Garelli, E., Draptchinskaia, N., Ball, S., Willig, T.-N., Tentler, D., Dianzani, I., Punnett, H. H., Shafer, F. E., Cario, H., Ramenghi, U., Glomstein, A., Pfeiffer, R. A., Goringe, A., Olivieri, N. F., Smibert, E., Tchernia, G., Elinder, G., Dahl, N. <strong>Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 63: 1388-1395, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792865</a>] [<a href="https://doi.org/10.1086/302100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792865">Gustavsson et al. (1998)</a> studied 29 multiplex DBA families and 50 families with sporadic DBA cases. In 26 of the 29 multiplex families, DNA analysis yielded results consistent with a DBA gene on 19q within a 4.1-cM interval restricted by D19S200 and D19S178; however, in 3 multiplex families, the DBA candidate region on 19q13 was excluded from the segregation of marker alleles. This result suggested genetic heterogeneity for DBA, but indicated that the gene region on 19q segregates with the majority of familial cases. Among the 50 families comprising sporadic DBA cases, <a href="#31" class="mim-tip-reference" title="Gustavsson, P., Garelli, E., Draptchinskaia, N., Ball, S., Willig, T.-N., Tentler, D., Dianzani, I., Punnett, H. H., Shafer, F. E., Cario, H., Ramenghi, U., Glomstein, A., Pfeiffer, R. A., Goringe, A., Olivieri, N. F., Smibert, E., Tchernia, G., Elinder, G., Dahl, N. <strong>Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 63: 1388-1395, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792865</a>] [<a href="https://doi.org/10.1086/302100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9792865">Gustavsson et al. (1998)</a> identified 2 de novo and overlapping microdeletions on 19q13. In combination, the 3 known microdeletions associated with DBA restricted the critical gene region to approximately 1 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792865" 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</em></strong></p><p>
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In 5 of 12 Italian families with DBA, <a href="#56" class="mim-tip-reference" title="Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M. F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D'Avanzo, M., Nobili, B., Massolo, F., Mori, P. G., Locatelli, F., Gustavsson, P., Dahl, N., Dianzani, I. <strong>Diamond-Blackfan anaemia in the Italian population.</strong> Brit. J. Haemat. 104: 841-848, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10192448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10192448</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1999.01267.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10192448">Ramenghi et al. (1999)</a> excluded the locus on 19q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10192448" 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="Costa, L. D. A., Fixler, J., Berets, O., Leblanc, T., Willig, T.-N., Mohandas, N., Tchernia, G. <strong>Piebaldism in Diamond-Blackfan anaemia: a new phenotype? (Letter)</strong> Brit. J. Haemat. 119: 572 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12406103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12406103</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03835_1.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12406103">Costa et al. (2002)</a> described piebaldism in a patient with DBA who did not have a mutation in the RPS19, KIT, or SCF genes. RPS19 is involved in approximately 25% of patients with DBA, KIT is a basis for piebald trait, and SCF is the KIT ligand. <a href="#12" class="mim-tip-reference" title="Costa, L. D. A., Fixler, J., Berets, O., Leblanc, T., Willig, T.-N., Mohandas, N., Tchernia, G. <strong>Piebaldism in Diamond-Blackfan anaemia: a new phenotype? (Letter)</strong> Brit. J. Haemat. 119: 572 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12406103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12406103</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2002.03835_1.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12406103">Costa et al. (2002)</a> suggested that DBA with piebaldism may represent a novel phenotype due to mutation in a gene not previously identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12406103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 10 of 40 probands with DBA, <a href="#16" class="mim-tip-reference" title="Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N. <strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong> Nature Genet. 21: 169-175, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9988267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9988267</a>] [<a href="https://doi.org/10.1038/5951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9988267">Draptchinskaia et al. (1999)</a> identified 9 different heterozygous mutations in the RPS19 gene (see, e.g., <a href="/entry/603474#0001">603474.0001</a>-<a href="/entry/603474#0002">603474.0002</a>). Twenty-one patients had a family history of the disorder and 19 were sporadic cases. Six of the patients with mutations had a family history of the disorder. No mutations were found in the 5-prime untranslated region sequence or in the coding sequence in the 30 other probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9988267" 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="#68" class="mim-tip-reference" title="Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G. <strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong> Blood 94: 4294-4306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>]" pmid="10590074">Willig et al. (1999)</a> identified heterozygous mutations in the RPS19 gene in 42 (24.4%) of 172 index patients with DBA. Mutations in the RPS19 gene were also found in some apparently unaffected individuals from DBA families who presented only with increased ADA levels. The authors found no genotype/phenotype correlations. For example, in 1 family, a pair of monozygotic twins had the same mutation, but only 1 of them had a thumb malformation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" 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="#23" class="mim-tip-reference" title="Gazda, H. T., Grabowska, A., Merida-Long, L. B., Latawiec, E., Schneider, H. E., Lipton, J. M., Vlachos, A., Atsidaftos, E., Ball, S. E., Orfali, K. A., Niewiadomska, E., Da Costa, L., and 11 others. <strong>Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.</strong> Am. J. Hum. Genet. 79: 1110-1118, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186470</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186470[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/10.1086/510020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186470">Gazda et al. (2006)</a> stated that mutation in the RPS19 gene occurs in an estimated 25% of probands with DBA. The authors identified de novo nonsense and splice site mutations in another ribosomal protein, RPS24 (<a href="/entry/602412">602412</a>), in 3 families with DBA. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other ribosomal proteins or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186470" 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="#7" class="mim-tip-reference" title="Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others. <strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong> Hum. Mutat. 31: 1269-1279, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>] [<a href="https://doi.org/10.1002/humu.21383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20960466">Boria et al. (2010)</a> reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" 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="#44" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified large deletions in 6 (7%) of the patients, including a deletion in the RPS19 gene (<a href="/entry/603474#0009">603474.0009</a>) in a steroid-dependent male patient with a webbed neck. Large deletions were also identified in the RPS24, RPS17, RPS26, and RPL15 genes; <a href="#44" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> proposed screening of all 80 ribosomal protein genes for copy number changes in DBA patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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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<div class="mim-changed mim-change"><p>For discussion of a possible association between Diamond-Blackfan anemia and variation in the RPL8 gene, see <a href="/entry/604177">604177</a>.</p></div>
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<p><a href="#26" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> screened 196 probands with DBA for mutations in 25 genes encoding ribosomal proteins and identified mutations in the RPL5 (<a href="/entry/603634">603634</a>), RPL11 (<a href="/entry/604175">604175</a>), and RPS7 (<a href="/entry/603658">603658</a>) genes that segregated with disease in multiplex families and were associated with defects in the maturation of ribosomal RNAs in vitro. Mutations in RPL5 were associated with craniofacial abnormalities, particularly cleft lip and/or palate, in 9 of 14 patients with known malformations; the authors noted that none of the 12 DBA patients with RPL11 mutations and associated malformations had craniofacial abnormalities (p = 0.007) nor did any of the 35 previously reported DBA patients with RPS19 mutations and associated malformations (p = 9.745 x 10(-7)). In addition, mutations in RPL5 appeared to cause a more severe phenotype compared to mutations in RPL11 or RPS19, with RPL11 mutations being predominantly associated with thumb abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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="#25" class="mim-tip-reference" title="Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H. <strong>Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia.</strong> Hum. Mutat. 33: 1037-1044, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22431104[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/10.1002/humu.22081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22431104">Gazda et al. (2012)</a> completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the then-known 10 DBA-associated genes, RPS19 accounted for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. <a href="#25" class="mim-tip-reference" title="Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H. <strong>Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia.</strong> Hum. Mutat. 33: 1037-1044, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22431104[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/10.1002/humu.22081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22431104">Gazda et al. (2012)</a> stated that in total these mutations accounted for approximately 54% of all DBA patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22431104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 98 Japanese patients with DBA, <a href="#64" class="mim-tip-reference" title="Wang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato-Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., Shiraishi, Y., Chiba, K., and 21 others. <strong>Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 168: 854-864, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25424902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25424902</a>] [<a href="https://doi.org/10.1111/bjh.13229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25424902">Wang et al. (2015)</a> detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25424902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In France, <a href="#69" class="mim-tip-reference" title="Willig, T.-N., Niemeyer, C. M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J. L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S, Guillard, J. M., Mohandas, N., Tchernia, G. <strong>Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients.</strong> Pediat. Res. 46: 553-561, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541318</a>] [<a href="https://doi.org/10.1203/00006450-199911000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541318">Willig et al. (1999)</a> estimated the incidence of DBA to be 7.3 cases per million live births. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> stated that the incidence of DBA is estimated to be 5 to 7 per million live births, equally distributed between genders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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="#48" class="mim-tip-reference" title="Mentzer, W. C. <strong>Louis Diamond and his contribution to haematology.</strong> Brit. J. Haemat. 123: 389-395, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14616996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14616996</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2003.04603.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14616996">Mentzer (2003)</a> provided a biographic sketch of Louis Diamond (1902-1999) and a review of his contributions to pediatric hematology. <a href="#14" class="mim-tip-reference" title="Diamond, L. K., Blackfan, K. D. <strong>Hypoplastic anemia.</strong> Am. J. Dis. Child. 56: 464-467, 1938."None>Diamond and Blackfan (1938)</a> described 'their' syndrome in an article on hypoplastic anemia. They reported 4 children with hypoplastic anemia beginning in infancy and requiring red cell transfusions at regular intervals. Similar cases had been reported earlier by <a href="#41" class="mim-tip-reference" title="Josephs, H. W. <strong>Anaemia of infancy and early childhood.</strong> Medicine 15: 307-451, 1936."None>Josephs (1936)</a> at Johns Hopkins. Diamond's name is also associated with that of Shwachman in the syndrome of pancreatic insufficiency and bone marrow dysfunction, Shwachman-Diamond syndrome (<a href="/entry/260400">260400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14616996" 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>'Congenital (erythroid) hypoplastic anemia' was the term used by <a href="#13" class="mim-tip-reference" title="Diamond, L. K., Allen, D. W., Magill, F. B. <strong>Congenital (erythroid) hypoplastic anemia: a 25 year study.</strong> Am. J. Dis. Child. 102: 403-415, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13722603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13722603</a>] [<a href="https://doi.org/10.1001/archpedi.1961.02080010405019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13722603">Diamond et al. (1961)</a> for the disorder subsequently called Diamond-Blackfan anemia. Confusingly, <a href="#18" class="mim-tip-reference" title="Estren, S., Dameshek, W. <strong>Familial hypoplastic anemia of childhood: report of eight cases in two families with beneficial effect of splenectomy in one case.</strong> Am. J. Dis. Child. 73: 671-687, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20252731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20252731</a>] [<a href="https://doi.org/10.1001/archpedi.1947.02020410022003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20252731">Estren and Dameshek (1947)</a> had used the designation 'familial hypoplastic anemia' for the disorder in 2 families that were later shown to have Fanconi anemia (FA; <a href="/entry/227650">227650</a>) (<a href="#46" class="mim-tip-reference" title="Li, F. P., Potter, N. U. <strong>Classical Fanconi anemia in a family with hypoplastic anemia.</strong> J. Pediat. 92: 943-944, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/660362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">660362</a>] [<a href="https://doi.org/10.1016/s0022-3476(78)80367-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="660362">Li and Potter, 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=660362+20252731+13722603" 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="#Altman1953" class="mim-tip-reference" title="Altman, K. I., Miller, G. <strong>A disturbance of tryptophan metabolism in congenital hypoplastic anemia.</strong> Nature 172: 868, 1953.">Altman and Miller (1953)</a>; <a href="#Higginbottom1978" class="mim-tip-reference" title="Higginbottom, M. C., Jones, K. L., Kung, F. H., Koch, T. K., Boyer, J. L. <strong>The Aase syndrome in a female infant.</strong> J. Med. Genet. 15: 484-486, 1978.">Higginbottom et al. (1978)</a>; <a href="#Hoffman1976" class="mim-tip-reference" title="Hoffman, R., Zanjani, E. D., Vila, J., Zalusky, R., Lutton, J. D., Wasserman, L. R. <strong>Diamond-Blackfan syndrome: lymphocyte-mediated suppression of erythropoiesis.</strong> Science 193: 899-900, 1976.">Hoffman et al.
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(1976)</a>; <a href="#Jones1973" class="mim-tip-reference" title="Jones, B., Thompson, H. <strong>Triphalangeal thumbs associated with hypoplastic anemia.</strong> Pediatrics 52: 609-612, 1973.">Jones and Thompson (1973)</a>; <a href="#Kass1953" class="mim-tip-reference" title="Kass, A., Sundal, A. <strong>Anaemia hypoplastica congenita (anaemia typus Josephs-Diamond-Blackfan): report of a case treated with adrenocorticotropin with effect.</strong> Acta Paediat. (Stockh.) 42: 264-274, 1953.">Kass and Sundal (1953)</a>; <a href="#Muis1986" class="mim-tip-reference" title="Muis, N., Beemer, F. A., van Dijken, P., Klep-de Pater, J. M. <strong>The Aase syndrome: case report and review of the literature.</strong> Europ. J. Pediat. 145: 153-157, 1986.">Muis et
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al. (1986)</a>; <a href="#Murphy1972" class="mim-tip-reference" title="Murphy, S., Lubin, B. <strong>Triphalangeal thumbs and congenital erythroid hypoplasia: report of a case with unusual features.</strong> J. Pediat. 81: 987-989, 1972.">Murphy and Lubin (1972)</a>; <a href="#Pearson1957" class="mim-tip-reference" title="Pearson, H. A., Cone, T. E., Jr. <strong>Congenital hypoplastic anemia.</strong> Pediatrics 19: 192-200, 1957.">Pearson and Cone (1957)</a>; <a href="#Terheggen1974" class="mim-tip-reference" title="Terheggen, H. G. <strong>Hypoplastic anemia accompanied by triphalangeal thumbs.</strong> Z. Kinderheilk. 118: 71-80, 1974.">Terheggen (1974)</a>; <a href="#van1977" class="mim-tip-reference" title="van Weel-Sipman, M., van de Kamp, J. J. P., de Koning, J. <strong>A female patient with 'Aase syndrome'.</strong> J. Pediat. 91: 753-755, 1977.">van Weel-Sipman et al. (1977)</a>
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Abkowitz, J. L., Sabo, K. M., Nakamoto, B., Blau, C. A., Martin, F. H., Zsebo, K. M., Papayannopoulou, T.
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<strong>Diamond-Blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit.</strong>
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Blood 78: 2198-2202, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1718487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1718487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1718487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Thumbs and anemia.</strong>
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Pediatrics 62: 613-614, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=714597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Altman, K. I., Miller, G.
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[<a href="https://doi.org/10.1046/j.1365-2141.2002.03835_1.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1961.02080010405019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1947.02020410022003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1963.tb03758.x" target="_blank">Full Text</a>]
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<strong>Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.</strong>
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[<a href="https://doi.org/10.1182/blood.v97.7.2145" target="_blank">Full Text</a>]
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<strong>Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186470</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186470[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=17186470" 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/10.1086/510020" target="_blank">Full Text</a>]
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<strong>Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16741228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16741228</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16741228[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=16741228" 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/10.1634/stemcells.2005-0554" target="_blank">Full Text</a>]
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Gazda, H. T., Preti, M., Sheen, M. R., O'Donohue, M.-F., Vlachos, A., Davies, S. M., Kattamis, A., Doherty, L., Landowski, M., Buros, C., Ghazvinian, R., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Gleizes, P.-E., Beggs, A. H.
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<strong>Frameshift mutation of p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia.</strong>
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Hum. Mutat. 33: 1037-1044, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22431104[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=22431104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22081" target="_blank">Full Text</a>]
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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=19061985" 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.2008.11.004" target="_blank">Full Text</a>]
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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[<a href="https://doi.org/10.1111/bjh.12397" target="_blank">Full Text</a>]
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<strong>Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.</strong>
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[<a href="https://doi.org/10.1056/NEJM198312153092404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320500119" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.5694/j.1326-5377.1982.tb124149.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302100" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.9.779" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0897-368" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.49.1.71" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.986086" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320400422" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1953.tb05590.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-013-1326-z" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1974.tb00270.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(78)80367-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00441882" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(72)80558-4" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6865981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6865981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6865981" 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="Ramenghi1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M. F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D'Avanzo, M., Nobili, B., Massolo, F., Mori, P. G., Locatelli, F., Gustavsson, P., Dahl, N., Dianzani, I.
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[<a href="https://doi.org/10.1046/j.1365-2141.1999.01267.x" target="_blank">Full Text</a>]
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<a id="Sensenbrenner1972" class="mim-anchor"></a>
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<p class="mim-text-font">
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<a id="58" class="mim-anchor"></a>
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<a id="Sieff1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1282827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1282827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1282827" 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.1365-2141.1992.tb06938.x" target="_blank">Full Text</a>]
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<a id="Spritz1993" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4432558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4432558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4432558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/909014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">909014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=909014" 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/s0022-3476(77)81030-5" target="_blank">Full Text</a>]
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<a id="Viskochil1990" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2309764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320350221" target="_blank">Full Text</a>]
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<a id="63" class="mim-anchor"></a>
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<a id="Wallman1956" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>Hereditary red cell aplasia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13368831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13368831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13368831" 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/10.5694/j.1326-5377.1956.tb56915.x" target="_blank">Full Text</a>]
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<a id="64" class="mim-anchor"></a>
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<a id="Wang2015" class="mim-anchor"></a>
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Wang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato-Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., Shiraishi, Y., Chiba, K., and 21 others.
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<strong>Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25424902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25424902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25424902" 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/bjh.13229" target="_blank">Full Text</a>]
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<a id="65" class="mim-anchor"></a>
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<a id="Wang1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, W. C., Mentzer, W., Alter, B.
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<strong>Congenital hypoplastic anemia: Diamond-Blackfan syndrome: comments and additional data on clinical aspects of Diamond-Blackfan syndrome.</strong>
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Blood Cells 4: 215-218, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/747771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">747771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=747771" 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="66" class="mim-anchor"></a>
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<a id="Wasser1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wasser, J. S., Yolken, R., Miller, D. R., Diamond, L.
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<strong>Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia.</strong>
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Blood 51: 991-995, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/273451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">273451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=273451" 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="67" class="mim-anchor"></a>
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<a id="Whitehouse1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whitehouse, D. B., Hopkinson, D. A., Evans, D. I. K.
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<strong>Adenosine deaminase activity in Diamond-Blackfan syndrome. (Letter)</strong>
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Lancet 324: 1398-1399, 1984. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6150395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6150395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6150395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(84)92092-0" target="_blank">Full Text</a>]
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<a id="68" class="mim-anchor"></a>
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<a id="Willig1999" class="mim-anchor"></a>
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Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G.
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<strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong>
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Blood 94: 4294-4306, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10590074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10590074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10590074" 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="Willig1999" class="mim-anchor"></a>
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<div class="">
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Willig, T.-N., Niemeyer, C. M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J. L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S, Guillard, J. M., Mohandas, N., Tchernia, G.
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<strong>Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients.</strong>
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Pediat. Res. 46: 553-561, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541318" 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/10.1203/00006450-199911000-00011" target="_blank">Full Text</a>]
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<br />
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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 : 02/05/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 04/16/2018<br>Marla J. F. O'Neill - updated : 03/28/2017<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Marla J. F. O'Neill - updated : 12/2/2013<br>Cassandra L. Kniffin - updated : 2/20/2013<br>Marla J. F. O'Neill - updated : 11/1/2012<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Marla J. F. O'Neill - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 3/11/2009<br>Marla J. F. O'Neill - updated : 1/26/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Victor A. McKusick - updated : 11/28/2006<br>Cassandra L. Kniffin - reorganized : 6/23/2005<br>Victor A. McKusick - updated : 7/17/2001<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 1/28/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 01/09/2025
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carol : 03/20/2024<br>carol : 03/20/2024<br>carol : 03/19/2024<br>carol : 10/12/2022<br>alopez : 10/11/2022<br>carol : 02/07/2019<br>alopez : 02/06/2019<br>ckniffin : 02/05/2019<br>alopez : 07/06/2018<br>carol : 04/17/2018<br>alopez : 04/16/2018<br>carol : 03/28/2017<br>alopez : 03/24/2015<br>ckniffin : 3/23/2015<br>carol : 7/29/2014<br>ckniffin : 7/28/2014<br>carol : 4/23/2014<br>carol : 3/19/2014<br>carol : 2/20/2014<br>carol : 2/20/2014<br>mcolton : 2/19/2014<br>ckniffin : 2/19/2014<br>carol : 12/2/2013<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>carol : 11/4/2013<br>carol : 2/20/2013<br>ckniffin : 2/20/2013<br>ckniffin : 2/19/2013<br>carol : 11/1/2012<br>terry : 11/1/2012<br>ckniffin : 9/25/2012<br>carol : 8/10/2011<br>wwang : 3/24/2011<br>ckniffin : 3/16/2011<br>carol : 3/18/2010<br>wwang : 3/19/2009<br>ckniffin : 3/11/2009<br>wwang : 1/29/2009<br>terry : 1/26/2009<br>carol : 1/13/2009<br>terry : 1/13/2009<br>terry : 1/13/2009<br>terry : 1/7/2009<br>alopez : 12/5/2006<br>terry : 11/28/2006<br>terry : 3/22/2006<br>carol : 6/23/2005<br>carol : 6/23/2005<br>ckniffin : 6/15/2005<br>terry : 4/18/2005<br>terry : 6/25/2004<br>terry : 6/2/2004<br>carol : 7/20/2001<br>terry : 7/17/2001<br>terry : 7/17/2001<br>carol : 10/27/1999<br>terry : 10/26/1999<br>alopez : 2/2/1999<br>terry : 1/28/1999<br>carol : 8/22/1996<br>marlene : 8/2/1996<br>terry : 7/29/1996<br>jason : 6/7/1994<br>mimadm : 3/11/1994<br>supermim : 3/16/1992<br>carol : 9/27/1991<br>supermim : 3/20/1990<br>supermim : 2/28/1990
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<span class="mim-font">
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<strong>#</strong> 105650
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<h3>
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DIAMOND-BLACKFAN ANEMIA 1; DBA1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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DBA<br />
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BLACKFAN-DIAMOND SYNDROME; BDS<br />
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ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND<br />
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ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC<br />
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RED CELL APLASIA, PURE, HEREDITARY<br />
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AREGENERATIVE ANEMIA, CHRONIC CONGENITAL<br />
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ERYTHROGENESIS IMPERFECTA<br />
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AASE-SMITH SYNDROME II<br />
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AASE SYNDROME
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<strong>ORPHA:</strong> 124;
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<strong>DO:</strong> 0111895;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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19q13.2
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<span class="mim-font">
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Diamond-Blackfan anemia 1
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<span class="mim-font">
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105650
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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RPS19
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<span class="mim-font">
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603474
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Diamond-Blackfan anemia-1 (DBA1) is caused by heterozygous mutation in the gene encoding ribosomal protein S19 (RPS19; 603474) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). </p><p><strong><em>Genetic Heterogeneity of Diamond-Blackfan Anemia</em></strong></p><p>
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A locus for DBA (DBA2; 606129) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (610629), caused by mutation in the RPS24 gene (602412) on 10q22; DBA4 (612527), caused by mutation in the RPS17 gene (180472) on 15q25; DBA5 (612528), caused by mutation in the RPL35A gene (180468) on 3q29; DBA6 (612561), caused by mutation in the RPL5 gene (603634) on 1p22; DBA7 (612562), caused by mutation in the RPL11 gene (604175) on 1p36; DBA8 (612563), caused by mutation in the RPS7 gene (603658) on 2p25; DBA9 (613308), caused by mutation in the RPS10 gene (603632) on 6p21; DBA10 (613309), caused by mutation in the RPS26 (603701) gene on 12q13; DBA11 (614900), caused by mutation in the RPL26 gene (603704) on 17p13; DBA12 (615550), caused by mutation in the RPL15 gene (604174) on 3p24; DBA13 (615909), caused by mutation in the RPS29 gene (603633) on 14q21; DBA14 (300946), caused by mutation in the TSR2 gene (300945) on Xp11; DBA15 (606164), caused by mutation in the RPS28 gene (603685) on 19p13; DBA16 (617408), caused by mutation in the RPL27 gene (607526) on 17q21; DBA17 (617409), caused by mutation in the RPS27 gene (603702) on 1q21; DBA18 (618310), caused by mutation in the RPL18 gene (604179) on 19q13; DBA19 (618312), caused by mutation in the RPL35 gene (618315) on 9q33; DBA20 (618313), caused by mutation in the RPS15A gene (603674) on 16p12; and DBA21 (620072), caused by mutation in the HEATR3 gene (614951) on 16q12.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>Diamond et al. (1961) observed triphalangeal thumbs in 1 of 30 patients with congenital erythroid hypoplastic anemia. Alter (1978) pointed out that triphalangeal thumbs occurred in 6 of 133 cases of congenital hypoplastic anemia. In all, 45 of the 133 cases (34%) had associated hand anomalies of some kind. </p><p>Cathie (1950) described a similar facial appearance in 4 unrelated affected children with erythrogenesis imperfecta, including snub noses, thick upper lips, and widely separated eyes. </p><p>A propensity for the development of leukemia has been reported (Krishnan et al., 1978; Wasser et al., 1978). </p><p>Ball et al. (1996) analyzed retrospective data from 80 cases of DBA (33 male, 47 female) born in the U.K. in a 20-year period (1975-1994), representing an annual incidence of 5 per million live births. Ten children from 7 families had an apparently familial disorder. Thirteen percent were anemic at birth, and 72.5% had presented by the age of 3 months. Sixty-seven percent had macrocytosis at presentation, 72% responded initially to steroids, and at the time of study, 61% were transfusion-dependent, 45% were steroid-dependent, and 39% required regular transfusions. Unequivocal physical anomalies, predominantly craniofacial, were present in 37%, and were more likely in boys (52%) than girls (25%). Eighteen percent had thumb anomalies. Height was below the 3rd centile for age in 28%; 31% had neither short stature nor physical anomalies. In 4 children without physical abnormalities, red cell indices were normal and steroid-independent remission was achieved, suggesting transient erythroblastopenia of childhood (227050) rather than DBA. The birth month distribution of children with sporadic DBA and craniofacial dysmorphism suggested a possible seasonality, consistent with a viral etiology. In the familial cases, affected males had unequivocal anomalies, whereas females had only short stature or equivocal anomalies. In 3 families, 2 generations were affected; in 1 family, 3 generations were affected. </p><p>Willig et al. (1999) reported 42 probands with DBA caused by mutation in the RPS19 gene. The mean age at presentation was 2 months, and approximately 40% had associated physical anomalies, including triphalangeal thumb, duplication of thumb, short stature, ventricular septal defects, kidney hypoplasia, low hairline, and congenital glaucoma. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Anur et al. (2009) reported a patient with nonclassical Diamond-Blackfan anemia. She presented at age 17 years with progressive pancytopenia and bone marrow hypoplasia diagnosed after nausea and vomiting following outpatient surgery for correction of a flexion contracture of the finger. She became transfusion-dependent and the disorder was steroid-resistant. Erythrocyte adenosine deaminase was increased, consistent with the diagnosis. She underwent bone marrow transplantation, but died of complications. Molecular studies were not performed on this patient. Anur et al. (2009) emphasized the unusual and late clinical presentation of DBA in this patient, who had rapidly progressive aplastic anemia and did not show typical physical stigmata of the disorder. </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>
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</h4>
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</div>
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<p>Willig et al. (1999) stated that although the majority of DBA cases are sporadic, approximately 10 to 25% are familial, with most showing autosomal dominant inheritance. </p><p>Gazda et al. (2012) stated that approximately 40 to 50% of DBA cases are familial and show autosomal and commonly dominant inheritance. </p><p>Familial cases of congenital erythroid hypoplastic anemia were reported by Burgert et al. (1954) and by Diamond et al. (1961). Wallman (1956) described a father and daughter with erythroid hypoplasia, but the ages of onset (34 and 6 years, respectively) were beyond the usual limits of the Diamond-Blackfan syndrome. Forare (1963) observed affected brother and sister with the same father but different mothers. Although he referred to them as 'step-sibs,' they are actually half-sibs. Mott et al. (1969) reported a similar situation of 3 affected children from 2 mothers and the same father. Falter and Robinson (1972) described affected mother and daughter. Only the mother had aminoaciduria, suggesting that it was unrelated to the hematologic disorder. Lawton et al. (1974) described father and son with documented erythroid anemia from infancy. The father's anemia remitted at age 6 years, but he continued to have macrocytosis, reticulocytosis, and raised fetal hemoglobin. Hamilton et al. (1974) described affected mother and daughter. Other families with possible autosomal dominant transmission were reported by Hunter and Hakami (1972), Wang et al. (1978), and Gray (1982). </p><p>Sensenbrenner (1972) described affected brother and sister. Pallor was first noted in the male at age 4 months and heart failure from anemia occurred at 10 months. Prednisone effectively controlled the anemia, but the brother developed aseptic necrosis of the left hip. Both patients had height below the 3rd percentile; at age 16, the brother was 147 cm tall, and at age 11, the sister was 127 cm tall. Both patients showed appropriate sexual maturation.</p><p>Viskochil et al. (1990) reported a kindred with 7 affected members in 4 sibships spanning 3 generations, with several instances of male-to-male transmission. Hurst et al. (1991) described a mother and son with congenital erythroid hypoplastic anemia; the son had a right radial club hand with absent thumb and conjoined radius and ulna on the right with small, useless thumb on the left. Gojic et al. (1994) reported a family in which 4 males in 3 successive generations had congenital hypoplastic anemia. None of these individuals had malformations; specifically, the thumbs and radii were normal. Two brothers were of short stature: 162 and 156 cm. </p><p>Of 6 pedigrees presented by Gustavsson et al. (1997), 2 families suggested autosomal recessive inheritance, and 4 families showed dominant inheritance with variable expressivity. In 1 family, the disease was evident in 3 generations with 2 instances of male-to-male transmission. In 2 families, the mother showed a mild anemia. In a fourth family, no phenotype was detected in the parents but the segregation of haplotypes indicated dominant inheritance from the mother. </p><p>Among 38 multiplex families with DBA collected from multiple geographic areas, Gazda et al. (2001) found a pedigree pattern consistent with autosomal dominant inheritance in all but 3. The 3 exceptions were small pedigrees consisting of 2 affected children and unaffected parents. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<p>Using custom enrichment technology combined with high-throughput sequencing of 80 ribosomal protein genes, Gerrard et al. (2013) identified and validated inactivating mutations in samples from 15 (88%) of 17 patients with Diamond-Blackfan anemia. Mutations in 8 different genes were identified; the most commonly affected gene in this cohort was RPL5 (603634), found in 5 patients, including an affected mother and daughter. The results indicated that this methodology is efficient for diagnosing the disorder. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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McLennan et al. (1996) made the prenatal diagnosis of congenital hypoplastic anemia causing hydrops fetalis in a child born to a 26-year-old woman with steroid-dependent Blackfan-Diamond syndrome. The diagnosis of BDS had been made in the mother at the age of 2 years following investigation of short stature and failure to thrive. From the age of 4 years, she had been treated with steroids, titrated to maintain a hemoglobin level between 7 and 8.5 g/dl. There was no relevant family history. Her first pregnancy ended in a spontaneous abortion at 8 weeks. In the second pregnancy, failure to visualize cardiac structures adequately at 22 weeks led to referral to a tertiary center. Cardiomegaly and a small pericardial effusion with structurally normal heart were demonstrated. By 33 weeks, the mother developed severe ascites and enlargement of the heart, which occupied nearly the entire chest. Cordocentesis at that time confirmed severe fetal anemia, and transfusion of packed red cells was undertaken. The infant was delivered by cesarean section at 34 weeks. No physical anomalies were found except for proximal and superior displacement of the first metatarsophalangeal joint of an otherwise normal left great toe. Mild cardiac failure had resolved by day 14. Bone marrow at 3 months of age showed a cellular marrow with normal megakaryocytes and myeloid differentiation but virtual absence of red cell precursors. Prednisolone was introduced at that stage without any significant response over the next 2 months. At 14 months of age, the baby was being managed with intermittent transfusions and continued steroid administration. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Pfeiffer and Ambs (1983) reported a patient in whom, as in other reported patients, treatment with prednisone was effective. </p><p>In 2 out of 6 patients, Dunbar et al. (1991) observed sustained remission following treatment with interleukin-3 (IL3; 147740). </p><p>Willig et al. (1999) assembled a registry of 229 DBA patients, including 151 from France, 70 from Germany, and 8 from other countries. Of 222 available for long-term follow-up analysis, 62.6% initially responded to steroid therapy. Initial steroid responsiveness was significantly and independently associated with older age at presentation, family history of DBA, and normal platelet count at the time of diagnosis. Severe evolution of the disease, transfusion dependence or death, was significantly and independently associated with a younger age at presentation and with a history of premature birth. In contrast, patients with a family history of the disease experienced a better outcome. The authors found that reassessing steroid responsiveness during the course of the disease for initially nonresponsive patients was useful. Bone marrow transplantation was successful in 11 of 13 cases. They suggested that HLA typing of probands and sibs should be performed early if patients are transfusion-dependent, and cord blood should be preserved. In families with dominant inheritance, no parental imprinting effect or anticipation phenomenon could be demonstrated. </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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<span class="mim-text-font">
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<p>Nathan et al. (1978) suggested that Diamond-Blackfan anemia may be a 'congenital abnormality of erythropoietin (EPO; 133170) responsiveness that causes a functional, if not absolute, deficiency of erythroid precursors.' </p><p>Halperin and Freedman (1989) noted that erythroid stem cells in DBA are partly or completely refractory to EPO. However, they noted that patients have normal EPO structure and no anti-EPO antibodies, suggesting that there may be an abnormality in EPO receptor expression, EPO binding, or EPO signal transduction. </p><p>Glader et al. (1983) found increased adenosine deaminase (ADA; 608958) activity in red cells of patients with DBS. Whitehouse et al. (1984) found heterogeneity in DBS with respect to erythrocyte ADA activity and concluded that increased ADA activity was not limited to erythroid cells. Two sibs in 1 family showed increased red cell ADA activity over 4 months of multiple blood sampling. Both patients had the ADA 2-1 electrophoretic pattern and both allelozymes showed hyperactivity, indicating that there was not a mutation at the ADA locus. </p><p>Abkowitz et al. (1991) cultured marrow and blood mononuclear cells from 10 Diamond-Blackfan patients with various hematopoietic growth factors in the presence or absence of stem cell factor (SCF; mast cell growth factor; Steel factor; SF; 184745). Because of erythroid bursts observed in cultures containing SCF, the authors speculated that the SCF axis may be involved in the pathogenesis of Diamond-Blackfan anemia, and suggested that a therapeutic trial of SCF in patients would be worthwhile. Similar results were obtained by Bagnara et al. (1991) and by Carow et al. (1991). Sieff et al. (1992) investigated whether DBA was due to hyporesponsiveness to or hypoproduction of Steel factor. By studying long-term bone marrow cultures, they found that the DBA patients studied responded to SCF and produced SCF mRNA normally, indicating that SCF itself was not involved in DBA pathophysiology. Olivieri et al. (1991) found no gross abnormalities in the structure of either stem cell factor or its tyrosine kinase receptor (KIT; 164920) in 10 DBA patients. Spritz and Freedman (1993) found no mutations in either the SCF or KIT genes in patients with DBA. </p><p>Dianzani et al. (1996) stated that there was neither molecular nor clinical evidence for the involvement of stem cell factor or interleukin-3 (IL3; 147740) in the pathogenesis of DBA. Dianzani et al. (1996) also found no abnormality of the coding sequence of the EPOR gene (133171) in 23 DBA patients using SSCP. A Southern blot hybridization with an EPOR probe was negative in 7 patients. Furthermore, linkage studies showed that the disorder did not segregate with the EPOR gene in 2 informative DBA families. </p><p>Using gene expression profiling, Gazda et al. (2006) found that erythroid precursors of 3 patients with RPS19-association DBA in remission showed downregulation of multiple ribosomal protein genes, as well as downregulation of genes involved in transcription and translation compared to cells from 6 control individuals. DBA cells also showed upregulation of several proapoptotic genes, including TNFRSF10B (603612) and TNFRSF6 (134637). In addition, DBA cells showed downregulation of MYB (189990) and changes in expression of other cancer-related genes. Some of these changes were validated by RT-PCR studies. Gazda et al. (2006) concluded that DBA results from impaired ribosome biogenesis and decreased protein translation. </p><p>Using small interfering RNA (siRNA), Flygare et al. (2007) showed that reduced expression of RPS19 in a human erythroleukemia cell line led to a defect in maturation of the 40S ribosomal subunits, affected erythroid differentiation, and increased apoptosis. Cells expressing siRNA targeting RPS19 failed to efficiently cleave 21S pre-rRNAs at the E site within internal transcribed sequence-1, which would normally lead to formation of the mature 3-prime end of the 18S rRNA. CD34 (142230)-negative and CD34-positive bone marrow cells from DBA patients with mutations in RPS19 showed an increased ratio of 21S to 18SE pre-rRNA compared with healthy controls, and the defect was more pronounced in CD34-negative patient cells. The findings indicated that RPS19 is required for efficient maturation of 40S ribosomal subunits. The results showed that cells from patients with DFA have a defect in pre-rRNA processing, and Flygare et al. (2007) concluded that the disorder results from defects in ribosome synthesis. </p><p>Calo et al. (2018) showed that ribosomal gene perturbations associated with Diamond-Blackfan anemia disrupted DDX21 (606357) localization. At the molecular level, Calo et al. (2018) demonstrated that impaired rRNA synthesis elicits a DNA damage response, and that ribosomal DNA damage results in tissue-selective and dosage-dependent effects on craniofacial development. Calo et al. (2018) concluded that these and other findings illustrated how disruption in general regulators that compromise nucleolar homeostasis can result in tissue-selective malformations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gustavsson et al. (1997) reported a female patient with a de novo balanced translocation t(X;19)(p21;q13) who presented with constitutional erythroblastopenia as well as short stature and left kidney hypoplasia. By analysis of 26 families with DBA, Gustavsson et al. (1997) found linkage to chromosome 19q13 with a peak lod score at D19S197 (maximum lod = 7.08, theta = 0.00). Within this region, a submicroscopic de novo deletion of 3.3 Mb was identified in a patient with DBA. The deletion coincided with the translocation breakpoint observed in the patient mentioned earlier and, together with key recombinations, restricted the DBA gene to a 1.8-Mb region. </p><p>Using polymorphic 19q13 markers, including a short-tandem repeat in the critical DBA locus region, Gustavsson et al. (1998) studied 29 multiplex DBA families and 50 families with sporadic DBA cases. In 26 of the 29 multiplex families, DNA analysis yielded results consistent with a DBA gene on 19q within a 4.1-cM interval restricted by D19S200 and D19S178; however, in 3 multiplex families, the DBA candidate region on 19q13 was excluded from the segregation of marker alleles. This result suggested genetic heterogeneity for DBA, but indicated that the gene region on 19q segregates with the majority of familial cases. Among the 50 families comprising sporadic DBA cases, Gustavsson et al. (1998) identified 2 de novo and overlapping microdeletions on 19q13. In combination, the 3 known microdeletions associated with DBA restricted the critical gene region to approximately 1 Mb. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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In 5 of 12 Italian families with DBA, Ramenghi et al. (1999) excluded the locus on 19q. </p><p>Costa et al. (2002) described piebaldism in a patient with DBA who did not have a mutation in the RPS19, KIT, or SCF genes. RPS19 is involved in approximately 25% of patients with DBA, KIT is a basis for piebald trait, and SCF is the KIT ligand. Costa et al. (2002) suggested that DBA with piebaldism may represent a novel phenotype due to mutation in a gene not previously identified. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 10 of 40 probands with DBA, Draptchinskaia et al. (1999) identified 9 different heterozygous mutations in the RPS19 gene (see, e.g., 603474.0001-603474.0002). Twenty-one patients had a family history of the disorder and 19 were sporadic cases. Six of the patients with mutations had a family history of the disorder. No mutations were found in the 5-prime untranslated region sequence or in the coding sequence in the 30 other probands. </p><p>Willig et al. (1999) identified heterozygous mutations in the RPS19 gene in 42 (24.4%) of 172 index patients with DBA. Mutations in the RPS19 gene were also found in some apparently unaffected individuals from DBA families who presented only with increased ADA levels. The authors found no genotype/phenotype correlations. For example, in 1 family, a pair of monozygotic twins had the same mutation, but only 1 of them had a thumb malformation. </p><p>Gazda et al. (2006) stated that mutation in the RPS19 gene occurs in an estimated 25% of probands with DBA. The authors identified de novo nonsense and splice site mutations in another ribosomal protein, RPS24 (602412), in 3 families with DBA. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other ribosomal proteins or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA. </p><p>Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis. </p><p>Landowski et al. (2013) performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified large deletions in 6 (7%) of the patients, including a deletion in the RPS19 gene (603474.0009) in a steroid-dependent male patient with a webbed neck. Large deletions were also identified in the RPS24, RPS17, RPS26, and RPL15 genes; Landowski et al. (2013) proposed screening of all 80 ribosomal protein genes for copy number changes in DBA patients. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between Diamond-Blackfan anemia and variation in the RPL8 gene, see 604177.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gazda et al. (2008) screened 196 probands with DBA for mutations in 25 genes encoding ribosomal proteins and identified mutations in the RPL5 (603634), RPL11 (604175), and RPS7 (603658) genes that segregated with disease in multiplex families and were associated with defects in the maturation of ribosomal RNAs in vitro. Mutations in RPL5 were associated with craniofacial abnormalities, particularly cleft lip and/or palate, in 9 of 14 patients with known malformations; the authors noted that none of the 12 DBA patients with RPL11 mutations and associated malformations had craniofacial abnormalities (p = 0.007) nor did any of the 35 previously reported DBA patients with RPS19 mutations and associated malformations (p = 9.745 x 10(-7)). In addition, mutations in RPL5 appeared to cause a more severe phenotype compared to mutations in RPL11 or RPS19, with RPL11 mutations being predominantly associated with thumb abnormalities. </p><p>Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the then-known 10 DBA-associated genes, RPS19 accounted for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations accounted for approximately 54% of all DBA patients. </p><p>In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In France, Willig et al. (1999) estimated the incidence of DBA to be 7.3 cases per million live births. </p><p>Landowski et al. (2013) stated that the incidence of DBA is estimated to be 5 to 7 per million live births, equally distributed between genders. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mentzer (2003) provided a biographic sketch of Louis Diamond (1902-1999) and a review of his contributions to pediatric hematology. Diamond and Blackfan (1938) described 'their' syndrome in an article on hypoplastic anemia. They reported 4 children with hypoplastic anemia beginning in infancy and requiring red cell transfusions at regular intervals. Similar cases had been reported earlier by Josephs (1936) at Johns Hopkins. Diamond's name is also associated with that of Shwachman in the syndrome of pancreatic insufficiency and bone marrow dysfunction, Shwachman-Diamond syndrome (260400). </p><p>'Congenital (erythroid) hypoplastic anemia' was the term used by Diamond et al. (1961) for the disorder subsequently called Diamond-Blackfan anemia. Confusingly, Estren and Dameshek (1947) had used the designation 'familial hypoplastic anemia' for the disorder in 2 families that were later shown to have Fanconi anemia (FA; 227650) (Li and Potter, 1978). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Altman and Miller (1953); Higginbottom et al. (1978); Hoffman et al.
|
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(1976); Jones and Thompson (1973); Kass and Sundal (1953); Muis et
|
|
al. (1986); Murphy and Lubin (1972); Pearson and Cone (1957);
|
|
Terheggen (1974); van Weel-Sipman et al. (1977)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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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Abkowitz, J. L., Sabo, K. M., Nakamoto, B., Blau, C. A., Martin, F. H., Zsebo, K. M., Papayannopoulou, T.
|
|
<strong>Diamond-Blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit.</strong>
|
|
Blood 78: 2198-2202, 1991.
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[PubMed: 1718487]
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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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Alter, B. P.
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<strong>Thumbs and anemia.</strong>
|
|
Pediatrics 62: 613-614, 1978.
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[PubMed: 714597]
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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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Altman, K. I., Miller, G.
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<strong>A disturbance of tryptophan metabolism in congenital hypoplastic anemia.</strong>
|
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Nature 172: 868, 1953.
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[PubMed: 13111217]
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[Full Text: https://doi.org/10.1038/172868a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Anur, P., Nemecek, E. R., Kurre, P.
|
|
<strong>The evolving spectrum of 'non-classical' Diamond-Blackfan anaemia - a case of eADA positive pancytopenia in a young adult. (Letter)</strong>
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Brit. J. Haemat. 145: 428-430, 2009.
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[PubMed: 19208100]
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[Full Text: https://doi.org/10.1111/j.1365-2141.2009.07590.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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Bagnara, G. P., Zauli, G., Vitale, L., Rosito, P., Vecchi, V., Paolucci, G., Avanzi, G. C., Ramenghi, U., Timeus, F., Gabutti, V.
|
|
<strong>In vitro growth and regulation of bone marrow enriched CD34(+) hematopoietic progenitors in Diamond-Blackfan anemia.</strong>
|
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Blood 78: 2203-2210, 1991.
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[PubMed: 1718488]
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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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Ball, S. E., McGuckin, C. P., Jenkins, G., Gordon-Smith, E. C.
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<strong>Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.</strong>
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Brit. J. Haemat. 94: 645-653, 1996.
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[PubMed: 8826887]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1996.d01-1839.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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Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others.
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<strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong>
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Hum. Mutat. 31: 1269-1279, 2010.
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[PubMed: 20960466]
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[Full Text: https://doi.org/10.1002/humu.21383]
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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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Burgert, E. O., Jr., Kennedy, R. L. J., Pease, G. L.
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|
<strong>Congenital hypoplastic anemia.</strong>
|
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Pediatrics 13: 218-226, 1954.
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[PubMed: 13155070]
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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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Calo, E., Gu, B., Bowen, M. E., Aryan F., Zalc, A., Liang, J., Flynn, R. A., Swigut, T., Chang, H. Y., Attardi, L. D., Wysocka, J.
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<strong>Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.</strong>
|
|
Nature 554: 112-117, 2018.
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[PubMed: 29364875]
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[Full Text: https://doi.org/10.1038/nature25449]
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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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Carow, C. E., Hangoc, G., Cooper, S. H., Williams, D. E., Broxmeyer, H. E.
|
|
<strong>Mast cell growth factor (c-kit ligand) supports the growth of human multipotential progenitor cells with a high replating potential.</strong>
|
|
Blood 78: 2216-2221, 1991.
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|
[PubMed: 1718490]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cathie, I. A. B.
|
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<strong>Erythrogenesis imperfecta.</strong>
|
|
Arch. Dis. Child. 25: 313-324, 1950.
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|
[PubMed: 14790824]
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[Full Text: https://doi.org/10.1136/adc.25.124.313]
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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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Costa, L. D. A., Fixler, J., Berets, O., Leblanc, T., Willig, T.-N., Mohandas, N., Tchernia, G.
|
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<strong>Piebaldism in Diamond-Blackfan anaemia: a new phenotype? (Letter)</strong>
|
|
Brit. J. Haemat. 119: 572 only, 2002.
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[PubMed: 12406103]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2002.03835_1.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">
|
|
Diamond, L. K., Allen, D. W., Magill, F. B.
|
|
<strong>Congenital (erythroid) hypoplastic anemia: a 25 year study.</strong>
|
|
Am. J. Dis. Child. 102: 403-415, 1961.
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|
[PubMed: 13722603]
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[Full Text: https://doi.org/10.1001/archpedi.1961.02080010405019]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Diamond, L. K., Blackfan, K. D.
|
|
<strong>Hypoplastic anemia.</strong>
|
|
Am. J. Dis. Child. 56: 464-467, 1938.
|
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|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Dianzani, I., Garelli, E., Dompe, C., Crescenzio, N., Locatelli, F., Schiliro, G., Castaman, G., Bagnara, G. P., Olivieri, N. F., Gabutti, V., Ramenghi, U.
|
|
<strong>Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.</strong>
|
|
Blood 87: 2568-2572, 1996.
|
|
|
|
|
|
[PubMed: 8630424]
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|
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., Dahl, N.
|
|
<strong>The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.</strong>
|
|
Nature Genet. 21: 169-175, 1999.
|
|
|
|
|
|
[PubMed: 9988267]
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|
[Full Text: https://doi.org/10.1038/5951]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dunbar, C. E., Smith, D. A., Kimball, J., Garrison, L., Nienhuis, A. W., Young, N. S.
|
|
<strong>Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3.</strong>
|
|
Brit. J. Haemat. 79: 316-321, 1991.
|
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|
|
|
[PubMed: 1958491]
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|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.1991.tb04540.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">
|
|
Estren, S., Dameshek, W.
|
|
<strong>Familial hypoplastic anemia of childhood: report of eight cases in two families with beneficial effect of splenectomy in one case.</strong>
|
|
Am. J. Dis. Child. 73: 671-687, 1947.
|
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|
|
[PubMed: 20252731]
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[Full Text: https://doi.org/10.1001/archpedi.1947.02020410022003]
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</p>
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</li>
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<li>
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<li>
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<p class="mim-text-font">
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Olivieri, N. F., Grunberger, T., Ben-David, Y., Ng, J., Williams, D. E., Lyman, S., Anderson, D. M., Axelrad, A. A., Correa, P., Bernstein, A., Freedman, M. H.
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<strong>Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the Steel locus.</strong>
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Blood 78: 2211-2215, 1991.
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[PubMed: 1718489]
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</p>
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<li>
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<p class="mim-text-font">
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Pearson, H. A., Cone, T. E., Jr.
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<strong>Congenital hypoplastic anemia.</strong>
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Pediatrics 19: 192-200, 1957.
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[PubMed: 13400593]
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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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Pfeiffer, R. A., Ambs, E.
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<strong>Das Aase-Syndrom: autosomal-rezessiv vererbte, konnatal insuffiziente Erythropoese und Triphalangie der Daumen.</strong>
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Mschr. Kinderheilk. 131: 235-237, 1983.
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[PubMed: 6865981]
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<p class="mim-text-font">
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Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M. F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D'Avanzo, M., Nobili, B., Massolo, F., Mori, P. G., Locatelli, F., Gustavsson, P., Dahl, N., Dianzani, I.
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<strong>Diamond-Blackfan anaemia in the Italian population.</strong>
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[PubMed: 10192448]
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[Full Text: https://doi.org/10.1046/j.1365-2141.1999.01267.x]
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</p>
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<p class="mim-text-font">
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Sensenbrenner, J. A.
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<strong>Congenital hypoplastic anemia of Blackfan and Diamond in sibs.</strong>
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Birth Defects Orig. Art. Ser. 8(3): 166-170, 1972.
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</p>
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<p class="mim-text-font">
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Sieff, C. A., Yokoyama, C. T., Zsebo, K. M., Trammell, J., Andersen, J. W., Nathan, D. G., Williams, D. A.
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<strong>The production of Steel factor mRNA in Diamond-Blackfan anaemia long-term cultures and interactions of Steel factor with erythropoietin and interleukin-3.</strong>
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Brit. J. Haemat. 82: 640-647, 1992.
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[PubMed: 1282827]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1992.tb06938.x]
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</p>
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<li>
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<p class="mim-text-font">
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Spritz, R. A., Freedman, M. H.
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<strong>Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia. (Letter)</strong>
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Blood 81: 3165, 1993.
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[PubMed: 7684626]
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<li>
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<p class="mim-text-font">
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Terheggen, H. G.
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<strong>Hypoplastic anemia accompanied by triphalangeal thumbs.</strong>
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Z. Kinderheilk. 118: 71-80, 1974.
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[PubMed: 4432558]
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</li>
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<li>
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<p class="mim-text-font">
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van Weel-Sipman, M., van de Kamp, J. J. P., de Koning, J.
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<strong>A female patient with 'Aase syndrome'.</strong>
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J. Pediat. 91: 753-755, 1977.
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[PubMed: 909014]
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[Full Text: https://doi.org/10.1016/s0022-3476(77)81030-5]
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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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Viskochil, D. H., Carey, J. C., Glader, B. E., Rothstein, G., Christensen, R. D.
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<strong>Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred.</strong>
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Am. J. Med. Genet. 35: 251-256, 1990.
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[PubMed: 2309764]
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[Full Text: https://doi.org/10.1002/ajmg.1320350221]
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<p class="mim-text-font">
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Wallman, I. S.
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<strong>Hereditary red cell aplasia.</strong>
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Med. J. Aust. 43: 488-490, 1956.
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[PubMed: 13368831]
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[Full Text: https://doi.org/10.5694/j.1326-5377.1956.tb56915.x]
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</p>
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<li>
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<p class="mim-text-font">
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Wang, R., Yoshida, K., Toki, T., Sawada, T., Uechi, T., Okuno, Y., Sato-Otsubo, A., Kudo, K., Kamimaki, I., Kanezaki, R., Shiraishi, Y., Chiba, K., and 21 others.
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<strong>Loss of function mutations in RPL27 and RPS27 identified by whole exome sequencing in Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 168: 854-864, 2015.
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[PubMed: 25424902]
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[Full Text: https://doi.org/10.1111/bjh.13229]
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<li>
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<p class="mim-text-font">
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Wang, W. C., Mentzer, W., Alter, B.
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<strong>Congenital hypoplastic anemia: Diamond-Blackfan syndrome: comments and additional data on clinical aspects of Diamond-Blackfan syndrome.</strong>
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Blood Cells 4: 215-218, 1978.
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[PubMed: 747771]
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</p>
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<li>
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<p class="mim-text-font">
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Wasser, J. S., Yolken, R., Miller, D. R., Diamond, L.
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<strong>Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia.</strong>
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Blood 51: 991-995, 1978.
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[PubMed: 273451]
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<p class="mim-text-font">
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Whitehouse, D. B., Hopkinson, D. A., Evans, D. I. K.
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<strong>Adenosine deaminase activity in Diamond-Blackfan syndrome. (Letter)</strong>
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Lancet 324: 1398-1399, 1984. Note: Originally Volume II.
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[PubMed: 6150395]
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[Full Text: https://doi.org/10.1016/s0140-6736(84)92092-0]
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Willig, T.-N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Perignon, J. L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N., Tchernia, G.
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<strong>Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression.</strong>
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Blood 94: 4294-4306, 1999.
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[PubMed: 10590074]
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Willig, T.-N., Niemeyer, C. M., Leblanc, T., Tiemann, C., Robert, A., Budde, J., Lambiliotte, A., Kohne, E., Souillet, G., Eber, S., Stephan, J. L., Girot, R., Bordigoni, P., Cornu, G., Blanche, S, Guillard, J. M., Mohandas, N., Tchernia, G.
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<strong>Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients.</strong>
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Pediat. Res. 46: 553-561, 1999.
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[PubMed: 10541318]
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[Full Text: https://doi.org/10.1203/00006450-199911000-00011]
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Cassandra L. Kniffin - updated : 02/05/2019<br>Ada Hamosh - updated : 04/16/2018<br>Marla J. F. O'Neill - updated : 03/28/2017<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Marla J. F. O'Neill - updated : 12/2/2013<br>Cassandra L. Kniffin - updated : 2/20/2013<br>Marla J. F. O'Neill - updated : 11/1/2012<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Marla J. F. O'Neill - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 3/11/2009<br>Marla J. F. O'Neill - updated : 1/26/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Marla J. F. O'Neill - updated : 1/13/2009<br>Victor A. McKusick - updated : 11/28/2006<br>Cassandra L. Kniffin - reorganized : 6/23/2005<br>Victor A. McKusick - updated : 7/17/2001<br>Victor A. McKusick - updated : 10/26/1999<br>Victor A. McKusick - updated : 1/28/1999
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