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<title>
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Entry
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- #301083 - ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9; CNSHA9
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- OMIM
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<span class="h4">#301083</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/301083"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS300908"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC) OR (GATA1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=301083[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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>DO:</strong> 0051008<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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301083
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9; CNSHA9
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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>
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<span class="mim-font">
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<div class="mim-changed mim-change">ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO; HAEADA</div><div class="mim-changed mim-change">ERYTHROCYTE ADA, ELEVATED, HEMOLYTIC ANEMIA DUE TO</div>
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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>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/256?start=-3&limit=10&highlight=256">
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Xp11.23
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Anemia, congenital, nonspherocytic hemolytic, 9
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/301083"> 301083 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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GATA1
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/305371"> 305371 </a>
|
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</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 ">
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<a href="/clinicalSynopsis/301083" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
|
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS300908" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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<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')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/301083" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/301083" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</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>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
|
|
Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
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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">
|
|
|
|
- Hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span><br /> -
|
|
Macrocytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83414005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83414005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002886</a>, <a href="https://bioportal.bioontology.org/search?q=C1420653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1420653</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001972</a>]</span><br /> -
|
|
Abnormal red cell morphology seen on peripheral smear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678011</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441973005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441973005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R71.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R71.8</a>]</span><br /> -
|
|
Stomatocytes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10636005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10636005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333804&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333804</a>, <a href="https://bioportal.bioontology.org/search?q=C0677598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0677598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004446</a>]</span><br /> -
|
|
Reticulocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46049004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46049004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span><br /> -
|
|
Thrombocytopenia (in some patients) <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 adenosine deaminase (ADA) activity in red cell precursors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678608</a>]</span><br /> -
|
|
Decreased red cell ATP (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678012</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased bilirubin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/176271000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">176271000119108</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26165005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26165005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0741494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0741494</a>, <a href="https://bioportal.bioontology.org/search?q=C0311468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003573</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Onset at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
|
|
Three unrelated male patients with confirmed GATA1 mutations have been reported (last curated June 2022)<br />
|
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|
|
</span>
|
|
</div>
|
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</div>
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|
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</div>
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<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 GATA-binding protein 1 gene (GATA1, <a href="/entry/305371#0012">305371.0012</a>)<br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Anemia, congenital, nonspherocytic hemolytic
|
|
- <a href="/phenotypicSeries/PS300908">PS300908</a>
|
|
- 10 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/1/1222?start=-3&limit=10&highlight=1222"> 1q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266200"> Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient </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/266200"> 266200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609712"> PKLR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609712"> 609712 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/601?start=-3&limit=10&highlight=601"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/230450"> Anemia, congenital, nonspherocytic hemolytic, 7 </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/230450"> 230450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606857"> GCLC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606857"> 606857 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/178?start=-3&limit=10&highlight=178"> 7p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266120"> Anemia, congenital, nonspherocytic hemolytic, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/266120"> 266120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606224"> NT5C3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606224"> 606224 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/180?start=-3&limit=10&highlight=180"> 8p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618660"> Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient </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/618660"> 618660 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138300"> GSR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138300"> 138300 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/526?start=-3&limit=10&highlight=526"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612631"> Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient </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/612631"> 612631 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103000"> AK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103000"> 103000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/235700"> Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient </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/235700"> 235700 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is caused by hemizygous or heterozygous mutation in the GATA1 gene (<a href="/entry/305371">305371</a>) on chromosome Xp11.</p>
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<p>Congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (<a href="/entry/608958">608958</a>) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (<a href="#7" class="mim-tip-reference" title="Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others. <strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong> Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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.2021013753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35030251">Ludwig et al., 2022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35030251" 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><strong><em>Early Reports without Genetic Confirmation</em></strong></p><p>
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<a href="#13" class="mim-tip-reference" title="Valentine, W. N., Paglia, D. E., Tartaglia, A. P., Gilsanz, F. <strong>Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.</strong> Science 195: 783-785, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/836588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">836588</a>] [<a href="https://doi.org/10.1126/science.836588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="836588">Valentine et al. (1977)</a> reported a kindred in which 12 individuals spanning 3 generations had hemolytic anemia associated in increased red cell ADA activity and decreased red cell ATP levels. Both males and females were affected. The anemia was mild and compensated in most cases. ADA activities ranged from 45- to 70-fold greater than controls. The authors concluded that the hemolytic disorder may result from the inability of the red cell to salvage adenine nucleotides upon which nonnucleated erythrocytes, incapable of de novo synthesis, are so dependent. <a href="#3" class="mim-tip-reference" title="Chottiner, E. G., Cloft, H. J., Tartaglia, A. P., Mitchell, B. S. <strong>Elevated adenosine deaminase activity and hereditary hemolytic anemia: evidence for abnormal translational control of protein synthesis.</strong> J. Clin. Invest. 79: 1001-1005, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3029177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3029177</a>] [<a href="https://doi.org/10.1172/JCI112866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3029177">Chottiner et al. (1987)</a> studied the family originally described by <a href="#13" class="mim-tip-reference" title="Valentine, W. N., Paglia, D. E., Tartaglia, A. P., Gilsanz, F. <strong>Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.</strong> Science 195: 783-785, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/836588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">836588</a>] [<a href="https://doi.org/10.1126/science.836588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="836588">Valentine et al. (1977)</a>. They verified that red cell ADA-specific activity was 70 to 100 times the normal levels. Western blots demonstrated a corresponding increase in red cell ADA-specific immunoreactive protein. Analysis of genomic DNA showed no evidence for amplification or major structural changes in the ADA gene. ADA-specific mRNA from proband reticulocytes was comparable in size and amount to mRNA from control reticulocytes. This finding excluded increased transcription of the gene or increased stability of red cell ADA mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3029177+836588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Miwa, S., Fujii, H., Matsumoto, N., Nakatsuji, T., Oda, S., Asano, H., Asano, S., Miura, Y. <strong>A case of red-cell adenosine deaminase over-production associated with hereditary hemolytic anemia found in Japan.</strong> Am. J. Hemat. 5: 107-115, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736030</a>] [<a href="https://doi.org/10.1002/ajh.2830050205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="736030">Miwa et al. (1978)</a> reported a 38-year-old Japanese male with compensated hemolytic anemia. His red cells showed moderate stomatocytosis and his red cell ADA activity was 40 times normal. The mother showed a 4-fold increase in red cell ADA; the father's enzyme levels were normal. ADA levels in lymphocytes were nearly normal. Serum uric acid levels were mildly elevated. The authors suggested that the genetic defect probably involves a regulatory gene at a locus separate from the structural locus for ADA on chromosome 20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=736030" 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="Perignon, J.-L., Hamet, M., Buc, H. A., Cartier, P. H., Derycke, M. <strong>Biochemical study of a case of hemolytic anemia with increased (85-fold) red cell adenosine deaminase.</strong> Clin. Chim. Acta 124: 205-212, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7139940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7139940</a>] [<a href="https://doi.org/10.1016/0009-8981(82)90388-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7139940">Perignon et al. (1982)</a> reported a 10-year-old boy with severe hemolytic anemia associated with ADA activity at about 85 times the normal range. Evidence was presented that the excessive ADA activity in red cells was due to an abnormal amount of a catalytically and immunologically normal enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7139940" 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>Patients with Confirmed GATA1 Mutations</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Kanno, H., Tani, K., Fujii, H., Iguchi-Ariga, S. M. M., Ariga, H., Kozaki, T., Miwa, S. Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia. <strong>case report and molecular analysis.</strong> Jpn. J. Exp. Med. 58: 1-8, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164080</a>]" pmid="3164080">Kanno et al. (1988)</a> reported a 10-year-old Japanese boy who presented at birth with pallor, hypospadias, and cryptorchidism. He had persistent hemolytic anemia with reticulocytosis and elevated bilirubin. Bone marrow examination showed hypercellularity and erythroid hyperplasia, and blood smear showed stomatocytosis. The half-life of red cells was decreased, but osmotic fragility was normal. Erythrocyte ADA enzymatic activity was significantly increased at 88.6 IU/gHb; lymphocyte ADA activity was normal. ATP levels were mildly decreased compared to controls. The patient underwent splenectomy at age 11 years, resulting in increased hemoglobin levels. Patient red cells showed elevated rate of ADA synthesis and abnormal accumulation of the ADA protein, with normal mRNA levels. ADA overproduction was not observed in other tissues. Red cell ADA in the mother was mildly increased at 1.74 IU/gHb; ADA in the father was normal. <a href="#6" class="mim-tip-reference" title="Kanno, H., Tani, K., Fujii, H., Iguchi-Ariga, S. M. M., Ariga, H., Kozaki, T., Miwa, S. Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia. <strong>case report and molecular analysis.</strong> Jpn. J. Exp. Med. 58: 1-8, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164080</a>]" pmid="3164080">Kanno et al. (1988)</a> concluded that the regulation of protein synthesis was altered in a tissue-specific pattern, namely in erythroid precursors. The patient had 3 sibs, all of whom died in the perinatal period due to congenital heart disease, unknown cause, and erythroblastosis fetalis, respectively; DNA was not available from those individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3164080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Ogura, H., Yamamoto, T., Utsugisawa, T., Aoki, T., Iwasaki, T., Ondo, Y., Kawakami, T., Nakagawa, S., Ozono, S., Inada, H., Kanno, H. <strong>The novel missense mutation of GATA1 caused red cell adenosine deaminase overproduction associated with congenital hemolytic anemia. (Abstract)</strong> Blood 128: 400, 2016."None>Ogura et al. (2016)</a> reported an 18-year-old Japanese man with congenital hemolytic anemia. Other features included low birth weight, hypospadias, splenomegaly, and slightly decreased platelet counts. The anemia was associated with increased erythrocyte ADA (39.7 IU/gHb), representing an over 30-fold elevation of the normal value. Red cell ADA in the mother was mildly increased at 7.4, whereas it was normal in the father. <a href="#7" class="mim-tip-reference" title="Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others. <strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong> Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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.2021013753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35030251">Ludwig et al. (2022)</a> reported that the hemolytic anemia had been apparent at birth and required blood transfusion, with eventual improvement through childhood. At age 17 years, he had an episode of intravascular hemolysis with severe anemia and abnormal morphology on blood smear, including anisocytosis, target cells, and ovalostomatocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35030251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others. <strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong> Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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.2021013753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35030251">Ludwig et al. (2022)</a> reported a 3-year-old boy, born of unrelated parents of Irish/English origin, who presented soon after birth with macrocytic anemia and thrombocytopenia requiring blood and platelet transfusions. He had a complicated neonatal course with a small ventricular septal defect (VSD), rash, micropenis, hepatosplenomegaly, clubfoot, and required an extensive stay in the NICU. Brain imaging showed extensive neuronal migrational abnormalities with pachygyria, a schizencephalic cleft, and periventricular white matter calcifications. Perinatal infections were excluded. Over time, his only hematologic abnormality was mild macrocytic hemolytic anemia. Erythrocyte ADA was elevated at 14.4 IU/gHb. He was verbal and could stand, but was nonambulatory. Red cell ADA level in the mother was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35030251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CNSHA9 in the families reported by <a href="#7" class="mim-tip-reference" title="Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others. <strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong> Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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.2021013753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35030251">Ludwig et al. (2022)</a> was consistent with X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35030251" 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 3 unrelated male patients with CNSHA9, including the patients reported by <a href="#6" class="mim-tip-reference" title="Kanno, H., Tani, K., Fujii, H., Iguchi-Ariga, S. M. M., Ariga, H., Kozaki, T., Miwa, S. Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia. <strong>case report and molecular analysis.</strong> Jpn. J. Exp. Med. 58: 1-8, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164080</a>]" pmid="3164080">Kanno et al. (1988)</a> and <a href="#10" class="mim-tip-reference" title="Ogura, H., Yamamoto, T., Utsugisawa, T., Aoki, T., Iwasaki, T., Ondo, Y., Kawakami, T., Nakagawa, S., Ozono, S., Inada, H., Kanno, H. <strong>The novel missense mutation of GATA1 caused red cell adenosine deaminase overproduction associated with congenital hemolytic anemia. (Abstract)</strong> Blood 128: 400, 2016."None>Ogura et al. (2016)</a>, <a href="#7" class="mim-tip-reference" title="Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others. <strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong> Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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.2021013753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35030251">Ludwig et al. (2022)</a> identified hemizygous mutations affecting the same residue in the GATA1 gene (R307C, <a href="/entry/305371#0012">305371.0012</a> and R307H, <a href="/entry/305371#0013">305371.0013</a>). The mutations affected a conserved residue in an intrinsically disordered region (IDR) in the C-terminal domain. The mutations, which were found by whole-exome sequencing, were not present in the gnomAD database. Patient-derived erythroid cells showed impaired differentiation, reduced proliferation, and altered morphology compared to controls, which could be partially rescued by expression of wildtype GATA1. Cells transduced with the mutations showed increased erythrocyte ADA levels and increased ADA mRNA levels compared to controls. RNA-seq analysis indicated differential expression of genes involved in hematopoiesis and terminal erythroid maturation. Mouse-derived Gata1-null cells transduced with Gata1 showed induction of Ter119, a marker for erythroid differentiation; cells transduced with the R307C/H mutants had reduced Ter119 expression. The R307C/H mutations partially disrupted a predicted nuclear localization signal, and the mutant proteins showed a 40% reduction in the nucleus and increased retention in the cytoplasm compared to wildtype. RNA-seq analysis results were consistent with altered transcriptional activity of the mutants toward canonical GATA1 target genes. Further studies of mutant cells showed altered chromatin accessibility and DNA binding associated with the mutations, consistent with the observed changes in gene expression that pointed to disrupted transcription regulation. Overall, the findings indicated a primary erythroid defect of terminal differentiation resulting from specific mutations in the GATA1 master transcription factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3164080+35030251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="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> suggested that elevated ADA activity is a feature of Blackfan-Diamond anemia (<a href="/entry/105650">105650</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=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="#9" class="mim-tip-reference" title="Novelli, G., Stocchi, V., Giannotti, A., Magnani, M., Dallapiccola, B. <strong>Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.</strong> Hum. Hered. 36: 37-40, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3949358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3949358</a>] [<a href="https://doi.org/10.1159/000153597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3949358">Novelli et al. (1986)</a> found a 4-fold increase in red cell ADA in a 16-month-old Libyan infant without hemolytic anemia but with mild anisopoikilocytosis. The parents, who were related as first cousins, and a healthy brother had normal red cell ADA levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3949358" 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 the form of severe combined immunodeficiency with deficiency of ADA (<a href="/entry/102700">102700</a>), structural changes such as point mutations have been identified in the ADA gene (<a href="/entry/608958">608958</a>) on chromosome 20 and the deficiency is found in all tissues. In the disorder of ADA excess, only the erythroid elements show the abnormality and the ADA molecule is structurally normal by all the usual criteria, including electrophoretic migration, kinetics for various substrates and inhibitors, heat stability, specific activity, pH optimum, immunologic reactivity, amino acid composition, and peptide patterns. The mutation is presumably in a gene separate from the structural gene for ADA. The study of these families with DNA markers located in the region of the ADA gene on 20q might prove conclusively that the determinant is at a site remote from the ADA gene. Such experiments were performed by <a href="#2" class="mim-tip-reference" title="Chen, E. H., Tartaglia, A. P., Mitchell, B. S. <strong>Hereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.</strong> Am. J. Hum. Genet. 53: 889-893, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213817</a>]" pmid="8213817">Chen et al. (1993)</a>, who, to determine whether increased ADA mRNA is due to a cis-acting or a trans-acting mutation, took advantage of a highly polymorphic TAAA repeat located at the tail end of an Alu repeat approximately 1.1 kb upstream of the ADA gene. Using PCR to amplify this region, they identified 5 different alleles in 19 members of an affected family (<a href="#13" class="mim-tip-reference" title="Valentine, W. N., Paglia, D. E., Tartaglia, A. P., Gilsanz, F. <strong>Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.</strong> Science 195: 783-785, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/836588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">836588</a>] [<a href="https://doi.org/10.1126/science.836588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="836588">Valentine et al., 1977</a>). All 11 affected individuals had an ADA allele with 12 TAAA repeats, whereas none of the 8 normal individuals did. They concluded that this disorder results from a cis-acting mutation in the vicinity of the ADA gene. <a href="#1" class="mim-tip-reference" title="Chen, E. H., Mitchell, B. S. <strong>Hereditary overexpression of adenosine deaminase in erythrocytes: studies in erythroid cell lines and transgenic mice.</strong> Blood 84: 2346-2353, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919352</a>]" pmid="7919352">Chen and Mitchell (1994)</a> examined reporter gene activity using constructs containing 10.6 kb of 5-prime flanking sequence and 12.3 kb of the first intron of the ADA gene from normal and mutant alleles. No differences in chloramphenicol acetyltransferase (CAT) activity were found in transient transfection experiments using erythroleukemia cell lines. Furthermore, transgenic mice containing the ADA constructs showed CAT activities in erythrocytes and bone marrow that did not differ between the normal and mutant alleles. Results were interpreted as indicating that the mutation responsible for ADA overexpression is unlikely to reside in the 5-prime and promoter regions or in the regulatory regions of the first intron of the ADA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8213817+836588+7919352" 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="#Fujii1980" class="mim-tip-reference" title="Fujii, H., Miwa, S., Suzuki, K. <strong>Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity.</strong> Hemoglobin 4: 693-705, 1980.">Fujii et al. (1980)</a>; <a href="#Paglia1970" class="mim-tip-reference" title="Paglia, D. E., Valentine, W. N., Tartaglia, A. P., Konrad, P. N. <strong>Adenine nucleotide reductions associated with a dominantly transmitted form of nonspherocytic hemolytic anemia. (Abstract)</strong> Blood 36: 837 only, 1970.">Paglia et al. (1970)</a>
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Blood 84: 2346-2353, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7919352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Am. J. Hum. Genet. 53: 889-893, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Elevated adenosine deaminase activity and hereditary hemolytic anemia: evidence for abnormal translational control of protein synthesis.</strong>
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J. Clin. Invest. 79: 1001-1005, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3029177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3029177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3029177" 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/10.1172/JCI112866" target="_blank">Full Text</a>]
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<p class="mim-text-font">
|
|
Fujii, H., Miwa, S., Suzuki, K.
|
|
<strong>Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity.</strong>
|
|
Hemoglobin 4: 693-705, 1980.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7440220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7440220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7440220" 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/10.3109/03630268008997738" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
|
|
<a id="Glader1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
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.
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|
|
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|
|
[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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6646173" 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/10.1056/NEJM198312153092404" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kanno1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Kanno, H., Tani, K., Fujii, H., Iguchi-Ariga, S. M. M., Ariga, H., Kozaki, T., Miwa, S. Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia.
|
|
<strong>case report and molecular analysis.</strong>
|
|
Jpn. J. Exp. Med. 58: 1-8, 1988.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3164080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3164080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3164080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ludwig2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others.
|
|
<strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong>
|
|
Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35030251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35030251</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35030251[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=35030251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1182/blood.2021013753" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Miwa1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Miwa, S., Fujii, H., Matsumoto, N., Nakatsuji, T., Oda, S., Asano, H., Asano, S., Miura, Y.
|
|
<strong>A case of red-cell adenosine deaminase over-production associated with hereditary hemolytic anemia found in Japan.</strong>
|
|
Am. J. Hemat. 5: 107-115, 1978.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=736030" 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/ajh.2830050205" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Novelli1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Novelli, G., Stocchi, V., Giannotti, A., Magnani, M., Dallapiccola, B.
|
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<strong>Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.</strong>
|
|
Hum. Hered. 36: 37-40, 1986.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3949358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3949358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3949358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000153597" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Ogura2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ogura, H., Yamamoto, T., Utsugisawa, T., Aoki, T., Iwasaki, T., Ondo, Y., Kawakami, T., Nakagawa, S., Ozono, S., Inada, H., Kanno, H.
|
|
<strong>The novel missense mutation of GATA1 caused red cell adenosine deaminase overproduction associated with congenital hemolytic anemia. (Abstract)</strong>
|
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Blood 128: 400, 2016.
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Paglia1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paglia, D. E., Valentine, W. N., Tartaglia, A. P., Konrad, P. N.
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<strong>Adenine nucleotide reductions associated with a dominantly transmitted form of nonspherocytic hemolytic anemia. (Abstract)</strong>
|
|
Blood 36: 837 only, 1970.
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Perignon1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perignon, J.-L., Hamet, M., Buc, H. A., Cartier, P. H., Derycke, M.
|
|
<strong>Biochemical study of a case of hemolytic anemia with increased (85-fold) red cell adenosine deaminase.</strong>
|
|
Clin. Chim. Acta 124: 205-212, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7139940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7139940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7139940" 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/10.1016/0009-8981(82)90388-6" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Valentine1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valentine, W. N., Paglia, D. E., Tartaglia, A. P., Gilsanz, F.
|
|
<strong>Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.</strong>
|
|
Science 195: 783-785, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/836588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">836588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=836588" 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/10.1126/science.836588" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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 : 06/13/2022
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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="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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joanna : 02/05/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/11/2024<br>ckniffin : 10/02/2024<br>carol : 06/08/2023<br>alopez : 06/17/2022<br>ckniffin : 06/14/2022
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 301083
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9; CNSHA9
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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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<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>
|
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<span class="mim-font">
|
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ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO; HAEADA<br />
|
|
ERYTHROCYTE ADA, ELEVATED, HEMOLYTIC ANEMIA DUE TO
|
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>DO:</strong> 0051008;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
|
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
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<span class="mim-font">
|
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Xp11.23
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Anemia, congenital, nonspherocytic hemolytic, 9
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
301083
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GATA1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
305371
|
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</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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<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>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is caused by hemizygous or heterozygous mutation in the GATA1 gene (305371) on chromosome Xp11.</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>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (608958) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (Ludwig et al., 2022). </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>Clinical Features</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><strong><em>Early Reports without Genetic Confirmation</em></strong></p><p>
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Valentine et al. (1977) reported a kindred in which 12 individuals spanning 3 generations had hemolytic anemia associated in increased red cell ADA activity and decreased red cell ATP levels. Both males and females were affected. The anemia was mild and compensated in most cases. ADA activities ranged from 45- to 70-fold greater than controls. The authors concluded that the hemolytic disorder may result from the inability of the red cell to salvage adenine nucleotides upon which nonnucleated erythrocytes, incapable of de novo synthesis, are so dependent. Chottiner et al. (1987) studied the family originally described by Valentine et al. (1977). They verified that red cell ADA-specific activity was 70 to 100 times the normal levels. Western blots demonstrated a corresponding increase in red cell ADA-specific immunoreactive protein. Analysis of genomic DNA showed no evidence for amplification or major structural changes in the ADA gene. ADA-specific mRNA from proband reticulocytes was comparable in size and amount to mRNA from control reticulocytes. This finding excluded increased transcription of the gene or increased stability of red cell ADA mRNA. </p><p>Miwa et al. (1978) reported a 38-year-old Japanese male with compensated hemolytic anemia. His red cells showed moderate stomatocytosis and his red cell ADA activity was 40 times normal. The mother showed a 4-fold increase in red cell ADA; the father's enzyme levels were normal. ADA levels in lymphocytes were nearly normal. Serum uric acid levels were mildly elevated. The authors suggested that the genetic defect probably involves a regulatory gene at a locus separate from the structural locus for ADA on chromosome 20. </p><p>Perignon et al. (1982) reported a 10-year-old boy with severe hemolytic anemia associated with ADA activity at about 85 times the normal range. Evidence was presented that the excessive ADA activity in red cells was due to an abnormal amount of a catalytically and immunologically normal enzyme. </p><p><strong><em>Patients with Confirmed GATA1 Mutations</em></strong></p><p>
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Kanno et al. (1988) reported a 10-year-old Japanese boy who presented at birth with pallor, hypospadias, and cryptorchidism. He had persistent hemolytic anemia with reticulocytosis and elevated bilirubin. Bone marrow examination showed hypercellularity and erythroid hyperplasia, and blood smear showed stomatocytosis. The half-life of red cells was decreased, but osmotic fragility was normal. Erythrocyte ADA enzymatic activity was significantly increased at 88.6 IU/gHb; lymphocyte ADA activity was normal. ATP levels were mildly decreased compared to controls. The patient underwent splenectomy at age 11 years, resulting in increased hemoglobin levels. Patient red cells showed elevated rate of ADA synthesis and abnormal accumulation of the ADA protein, with normal mRNA levels. ADA overproduction was not observed in other tissues. Red cell ADA in the mother was mildly increased at 1.74 IU/gHb; ADA in the father was normal. Kanno et al. (1988) concluded that the regulation of protein synthesis was altered in a tissue-specific pattern, namely in erythroid precursors. The patient had 3 sibs, all of whom died in the perinatal period due to congenital heart disease, unknown cause, and erythroblastosis fetalis, respectively; DNA was not available from those individuals. </p><p>Ogura et al. (2016) reported an 18-year-old Japanese man with congenital hemolytic anemia. Other features included low birth weight, hypospadias, splenomegaly, and slightly decreased platelet counts. The anemia was associated with increased erythrocyte ADA (39.7 IU/gHb), representing an over 30-fold elevation of the normal value. Red cell ADA in the mother was mildly increased at 7.4, whereas it was normal in the father. Ludwig et al. (2022) reported that the hemolytic anemia had been apparent at birth and required blood transfusion, with eventual improvement through childhood. At age 17 years, he had an episode of intravascular hemolysis with severe anemia and abnormal morphology on blood smear, including anisocytosis, target cells, and ovalostomatocytes. </p><p>Ludwig et al. (2022) reported a 3-year-old boy, born of unrelated parents of Irish/English origin, who presented soon after birth with macrocytic anemia and thrombocytopenia requiring blood and platelet transfusions. He had a complicated neonatal course with a small ventricular septal defect (VSD), rash, micropenis, hepatosplenomegaly, clubfoot, and required an extensive stay in the NICU. Brain imaging showed extensive neuronal migrational abnormalities with pachygyria, a schizencephalic cleft, and periventricular white matter calcifications. Perinatal infections were excluded. Over time, his only hematologic abnormality was mild macrocytic hemolytic anemia. Erythrocyte ADA was elevated at 14.4 IU/gHb. He was verbal and could stand, but was nonambulatory. Red cell ADA level in the mother was not reported. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CNSHA9 in the families reported by Ludwig et al. (2022) was consistent with X-linked recessive inheritance. </p>
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<p>In 3 unrelated male patients with CNSHA9, including the patients reported by Kanno et al. (1988) and Ogura et al. (2016), Ludwig et al. (2022) identified hemizygous mutations affecting the same residue in the GATA1 gene (R307C, 305371.0012 and R307H, 305371.0013). The mutations affected a conserved residue in an intrinsically disordered region (IDR) in the C-terminal domain. The mutations, which were found by whole-exome sequencing, were not present in the gnomAD database. Patient-derived erythroid cells showed impaired differentiation, reduced proliferation, and altered morphology compared to controls, which could be partially rescued by expression of wildtype GATA1. Cells transduced with the mutations showed increased erythrocyte ADA levels and increased ADA mRNA levels compared to controls. RNA-seq analysis indicated differential expression of genes involved in hematopoiesis and terminal erythroid maturation. Mouse-derived Gata1-null cells transduced with Gata1 showed induction of Ter119, a marker for erythroid differentiation; cells transduced with the R307C/H mutants had reduced Ter119 expression. The R307C/H mutations partially disrupted a predicted nuclear localization signal, and the mutant proteins showed a 40% reduction in the nucleus and increased retention in the cytoplasm compared to wildtype. RNA-seq analysis results were consistent with altered transcriptional activity of the mutants toward canonical GATA1 target genes. Further studies of mutant cells showed altered chromatin accessibility and DNA binding associated with the mutations, consistent with the observed changes in gene expression that pointed to disrupted transcription regulation. Overall, the findings indicated a primary erythroid defect of terminal differentiation resulting from specific mutations in the GATA1 master transcription factor. </p>
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<p>Glader et al. (1983) suggested that elevated ADA activity is a feature of Blackfan-Diamond anemia (105650). </p><p>Novelli et al. (1986) found a 4-fold increase in red cell ADA in a 16-month-old Libyan infant without hemolytic anemia but with mild anisopoikilocytosis. The parents, who were related as first cousins, and a healthy brother had normal red cell ADA levels. </p><p>In the form of severe combined immunodeficiency with deficiency of ADA (102700), structural changes such as point mutations have been identified in the ADA gene (608958) on chromosome 20 and the deficiency is found in all tissues. In the disorder of ADA excess, only the erythroid elements show the abnormality and the ADA molecule is structurally normal by all the usual criteria, including electrophoretic migration, kinetics for various substrates and inhibitors, heat stability, specific activity, pH optimum, immunologic reactivity, amino acid composition, and peptide patterns. The mutation is presumably in a gene separate from the structural gene for ADA. The study of these families with DNA markers located in the region of the ADA gene on 20q might prove conclusively that the determinant is at a site remote from the ADA gene. Such experiments were performed by Chen et al. (1993), who, to determine whether increased ADA mRNA is due to a cis-acting or a trans-acting mutation, took advantage of a highly polymorphic TAAA repeat located at the tail end of an Alu repeat approximately 1.1 kb upstream of the ADA gene. Using PCR to amplify this region, they identified 5 different alleles in 19 members of an affected family (Valentine et al., 1977). All 11 affected individuals had an ADA allele with 12 TAAA repeats, whereas none of the 8 normal individuals did. They concluded that this disorder results from a cis-acting mutation in the vicinity of the ADA gene. Chen and Mitchell (1994) examined reporter gene activity using constructs containing 10.6 kb of 5-prime flanking sequence and 12.3 kb of the first intron of the ADA gene from normal and mutant alleles. No differences in chloramphenicol acetyltransferase (CAT) activity were found in transient transfection experiments using erythroleukemia cell lines. Furthermore, transgenic mice containing the ADA constructs showed CAT activities in erythrocytes and bone marrow that did not differ between the normal and mutant alleles. Results were interpreted as indicating that the mutation responsible for ADA overexpression is unlikely to reside in the 5-prime and promoter regions or in the regulatory regions of the first intron of the ADA gene. </p>
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<strong>See Also:</strong>
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</h4>
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<span class="mim-text-font">
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Fujii et al. (1980); Paglia et al. (1970)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Chen, E. H., Mitchell, B. S.
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<strong>Hereditary overexpression of adenosine deaminase in erythrocytes: studies in erythroid cell lines and transgenic mice.</strong>
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Blood 84: 2346-2353, 1994.
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[PubMed: 7919352]
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Chen, E. H., Tartaglia, A. P., Mitchell, B. S.
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<strong>Hereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.</strong>
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Am. J. Hum. Genet. 53: 889-893, 1993.
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[PubMed: 8213817]
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<p class="mim-text-font">
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Chottiner, E. G., Cloft, H. J., Tartaglia, A. P., Mitchell, B. S.
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<strong>Elevated adenosine deaminase activity and hereditary hemolytic anemia: evidence for abnormal translational control of protein synthesis.</strong>
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J. Clin. Invest. 79: 1001-1005, 1987.
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[PubMed: 3029177]
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[Full Text: https://doi.org/10.1172/JCI112866]
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<p class="mim-text-font">
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Fujii, H., Miwa, S., Suzuki, K.
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<strong>Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity.</strong>
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Hemoglobin 4: 693-705, 1980.
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[PubMed: 7440220]
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[Full Text: https://doi.org/10.3109/03630268008997738]
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Glader, B. E., Backer, K., Diamond, L. K.
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<strong>Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.</strong>
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New Eng. J. Med. 309: 1486-1490, 1983.
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[PubMed: 6646173]
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[Full Text: https://doi.org/10.1056/NEJM198312153092404]
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Kanno, H., Tani, K., Fujii, H., Iguchi-Ariga, S. M. M., Ariga, H., Kozaki, T., Miwa, S. Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia.
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<strong>case report and molecular analysis.</strong>
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Jpn. J. Exp. Med. 58: 1-8, 1988.
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[PubMed: 3164080]
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Ludwig, L. S., Lareau, C. A., Bao, E. L., Liu, N., Utsugisawa, T., Tseng, A. M., Myers, S. A., Verboon, J. M., Ulirsch, J. C., Luo, W., Muus, C., Fiorini, C., and 20 others.
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<strong>Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.</strong>
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Blood 139: 2534-2546, 2022. Note: Erratum: Blood 141: 1094 only, 2023.
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[PubMed: 35030251]
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[Full Text: https://doi.org/10.1182/blood.2021013753]
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Miwa, S., Fujii, H., Matsumoto, N., Nakatsuji, T., Oda, S., Asano, H., Asano, S., Miura, Y.
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<strong>A case of red-cell adenosine deaminase over-production associated with hereditary hemolytic anemia found in Japan.</strong>
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Am. J. Hemat. 5: 107-115, 1978.
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[PubMed: 736030]
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[Full Text: https://doi.org/10.1002/ajh.2830050205]
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Novelli, G., Stocchi, V., Giannotti, A., Magnani, M., Dallapiccola, B.
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<strong>Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.</strong>
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Hum. Hered. 36: 37-40, 1986.
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[PubMed: 3949358]
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[Full Text: https://doi.org/10.1159/000153597]
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Ogura, H., Yamamoto, T., Utsugisawa, T., Aoki, T., Iwasaki, T., Ondo, Y., Kawakami, T., Nakagawa, S., Ozono, S., Inada, H., Kanno, H.
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<strong>The novel missense mutation of GATA1 caused red cell adenosine deaminase overproduction associated with congenital hemolytic anemia. (Abstract)</strong>
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Blood 128: 400, 2016.
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Paglia, D. E., Valentine, W. N., Tartaglia, A. P., Konrad, P. N.
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<strong>Adenine nucleotide reductions associated with a dominantly transmitted form of nonspherocytic hemolytic anemia. (Abstract)</strong>
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Blood 36: 837 only, 1970.
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Perignon, J.-L., Hamet, M., Buc, H. A., Cartier, P. H., Derycke, M.
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<strong>Biochemical study of a case of hemolytic anemia with increased (85-fold) red cell adenosine deaminase.</strong>
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Clin. Chim. Acta 124: 205-212, 1982.
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[PubMed: 7139940]
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[Full Text: https://doi.org/10.1016/0009-8981(82)90388-6]
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Valentine, W. N., Paglia, D. E., Tartaglia, A. P., Gilsanz, F.
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<strong>Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.</strong>
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Science 195: 783-785, 1977.
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[PubMed: 836588]
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[Full Text: https://doi.org/10.1126/science.836588]
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Cassandra L. Kniffin : 06/13/2022
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joanna : 02/05/2025<br>carol : 10/11/2024<br>ckniffin : 10/02/2024<br>carol : 06/08/2023<br>alopez : 06/17/2022<br>ckniffin : 06/14/2022
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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information that you need at your fingertips.
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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