3308 lines
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Entry
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- #300842 - MCLEOD SYNDROME; MCLDS
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- OMIM
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<p>
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<span class="h4">#300842</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300842"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MCLEOD SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10791&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1354/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8791" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300842[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59306" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112107" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300842" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 115845005, 234411007<br />
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<strong>ORPHA:</strong> 59306<br />
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<strong>DO:</strong> 0112107<br />
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">ICD+</a>
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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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300842
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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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MCLEOD SYNDROME; MCLDS
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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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MCLEOD PHENOTYPE<br />
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NEUROACANTHOCYTOSIS, MCLEOD TYPE
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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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<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/156?start=-3&limit=10&highlight=156">
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Xp21.1
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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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McLeod syndrome
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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/300842"> 300842 </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">XL</abbr>
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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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XK
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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/314850"> 314850 </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/300842" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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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/300842" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/300842" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> CARDIOVASCULAR </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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<div>
|
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<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dilated cardiomyopathy (in 60% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
Atrial fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatosplenomegaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36760000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36760000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spleen </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatosplenomegaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36760000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36760000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness or atrophy (in 50% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3257821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3257821</a>]</span><br /> -
|
|
Myopathy, slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315593</a>]</span><br /> -
|
|
Rhabdomyolysis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240131006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240131006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89010004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89010004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Choreatic movement disorder (in 30% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315599</a>]</span><br /> -
|
|
Facial dyskinesia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315598</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Seizures (in 20-40% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Subcortical cognitive impairment (seen in 50% of patients with neuromuscular manifestations) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315596</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent deep tendon reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
|
|
Sensory-motor axonal neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850389</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Psychiatric abnormalities (in 20% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013650</a>]</span><br /> -
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Personality disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33449004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33449004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F60.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F60.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">301</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/301.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">301.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031212</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012075</a>]</span><br /> -
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Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
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Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
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Obsessive-compulsive disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191736004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191736004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12479006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12479006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F42.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R46.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R46.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F42.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F42.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/300.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">300.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028768</a>, <a href="https://bioportal.bioontology.org/search?q=C0600104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600104</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000722</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEMATOLOGY </strong>
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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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- Absence of Kx red blood cell antigen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315587&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315587</a>]</span><br /> -
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Weak expression of Kell antigen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315586</a>]</span><br /> -
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Acanthocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190787008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190787008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250249008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250249008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687751</a>, <a href="https://bioportal.bioontology.org/search?q=C0000744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000744</a>, <a href="https://bioportal.bioontology.org/search?q=C2239220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</a>]</span><br /> -
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Hemolysis, compensated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315585&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315585</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Elevated serum creatine levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315588</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Inter- and intrafamilial variability<br /> -
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Mean age of onset between 30-40 years<br /> -
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Disease duration ranged from 7-51 years<br /> -
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Female carriers manifesting the McLeod phenotype have been reported<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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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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- Caused by mutation in the Kell blood group protein gene (XK, <a href="/entry/314850#0001">314850.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that McLeod syndrome (MCLDS) is caused by mutation in the XK gene (<a href="/entry/314850">314850</a>) on chromosome Xp21. The XK gene encodes an antigen of the Kell blood group system (see <a href="/entry/110900">110900</a>).</p>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>McLeod syndrome (MCLDS) is an X-linked disorder characterized hematologically by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurodegenerative disorder. Onset of neurologic symptoms ranges between 25 and 60 years (mean onset, 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by <a href="#13" class="mim-tip-reference" title="Jung, H. H., Danek, A., Frey, B. M. <strong>McLeod syndrome: a neurohaematological disorder.</strong> Vox Sang. 93: 112-121, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17683354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17683354</a>] [<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17683354">Jung et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17683354" 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 McLeod phenotype was described by <a href="#1" class="mim-tip-reference" title="Allen, F. H., Krabbe, S. M. R., Corcoran, P. A. <strong>A new phenotype (McLeod) in the Kell blood-group system.</strong> Vox Sang. 6: 555-560, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13860532">Allen et al. (1961)</a> in a man of that surname. His red cells showed unaccountably weak reactivity to Kell antisera. In 1970, his red cells were noted to be acanthocytic in the absence of abetalipoproteinemia. (The precursor missing in McLeod's red cells is called Kx, and the X-linked gene determining this substance is called Xk). <a href="#25" class="mim-tip-reference" title="Wimer, B. M., Marsh, W. L., Taswell, H. F., Galey, W. R. <strong>Haematological changes associated with the McLeod phenotype of the Kell blood group system.</strong> Brit. J. Haemat. 36: 219-224, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871435</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1977.tb00642.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="871435">Wimer et al. (1977)</a> restudied the patient reported by <a href="#1" class="mim-tip-reference" title="Allen, F. H., Krabbe, S. M. R., Corcoran, P. A. <strong>A new phenotype (McLeod) in the Kell blood-group system.</strong> Vox Sang. 6: 555-560, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13860532">Allen et al. (1961)</a> and observed a compensated hemolytic state. Evidence for X-linkage of Xk was provided by mosaicism in females for both acanthocytosis and red cell Kx. The observations showed that some blood group antigenic substances are important to both structure and function of cell membranes. <a href="#13" class="mim-tip-reference" title="Jung, H. H., Danek, A., Frey, B. M. <strong>McLeod syndrome: a neurohaematological disorder.</strong> Vox Sang. 93: 112-121, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17683354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17683354</a>] [<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17683354">Jung et al. (2007)</a> stated that Hugh McLeod, the original propositus, died at the age of 69 after developing all major McLeod syndrome manifestations, presumably including neurologic deterioration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=871435+13860532+17683354" 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="Estes, J. W., Morley, T. J., Levine, I. M., Emerson, C. P. <strong>A new hereditary acanthocytosis syndrome.</strong> Am. J. Med. 42: 868-881, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6027162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6027162</a>] [<a href="https://doi.org/10.1016/0002-9343(67)90068-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6027162">Estes et al. (1967)</a> and <a href="#15" class="mim-tip-reference" title="Levine, I. M., Estes, J. W., Looney, J. M. <strong>Hereditary neurological disease with acanthocytosis: a new syndrome.</strong> Arch. Neurol. 19: 403-409, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5677189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5677189</a>] [<a href="https://doi.org/10.1001/archneur.1968.00480040069007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5677189">Levine et al. (1968)</a> reported a family in which 19 persons in 4 generations had some degree of neurologic abnormalities, 15 with, and 4 without, acanthocytosis. Acanthocytes averaged from 1 to 20% of the total erythrocyte count, and there was no obvious association between the degree of acanthocytosis and the severity of the neurologic disability. There were no demonstrable quantitative defects of low density (beta) or high density (alpha) lipoproteins. Major neurologic symptoms included muscle weakness and atrophy, leg cramps, disturbances of coordination, hyporeflexia, chorea, and seizures. The pattern of inheritance appeared to be autosomal dominant; however, <a href="#24" class="mim-tip-reference" title="Walker, R. H., Peikert, K., Jung, H. H., Hermann, A., Danek, A. <strong>Neuroacanthocytosis syndromes: the clinical perspective.</strong> Contact (Thousand Oaks) 6: 25152564231210339, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38090146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38090146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38090146[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/10.1177/25152564231210339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38090146">Walker et al. (2023)</a> stated that descendants of the family reported by <a href="#15" class="mim-tip-reference" title="Levine, I. M., Estes, J. W., Looney, J. M. <strong>Hereditary neurological disease with acanthocytosis: a new syndrome.</strong> Arch. Neurol. 19: 403-409, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5677189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5677189</a>] [<a href="https://doi.org/10.1001/archneur.1968.00480040069007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5677189">Levine et al. (1968)</a> had been found to carry mutations in the XK gene, indicating that they had McLeod syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=38090146+5677189+6027162" 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="#22" class="mim-tip-reference" title="Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J. <strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong> Brit. J. Haemat. 42: 575-583, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476009</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1979.tb01170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="476009">Symmans et al. (1979)</a> described the second example of the McLeod phenotype and the first example of a rare blood group being recognized because of a morphologic abnormality of red cells. Heterozygous females showed mosaicism with a normal and an acanthocytic red cell population. Thus, lyonization of this locus occurs even though nonlyonization holds for the Xg (<a href="/entry/314700">314700</a>) and ichthyosis (steroid sulfatase) loci (<a href="/entry/308100">308100</a>) which are in the same small segment of Xp. All cases of X-linked CGD (<a href="/entry/306400">306400</a>) that had been studied had Kx-negative leukocytes (<a href="#18" class="mim-tip-reference" title="Marsh, W. L. <strong>Personal Communication.</strong> New York, N. Y. 11/13/1979."None>Marsh, 1979</a>). At least two Xg:XK recombinants are known (<a href="#23" class="mim-tip-reference" title="Tippett, P. <strong>Personal Communication.</strong> London, England 7/1981."None>Tippett, 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476009" 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>The diagnosis of the McLeod phenotype in a boy with chronic anemia from a large New Zealand family led to the recognition of features such as hemolysis, hepatomegaly, and splenomegaly (<a href="#22" class="mim-tip-reference" title="Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J. <strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong> Brit. J. Haemat. 42: 575-583, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476009</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1979.tb01170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="476009">Symmans et al., 1979</a>) and proved the previous assumption of X-linked inheritance. <a href="#20" class="mim-tip-reference" title="Schwartz, S. A., Marsh, W. L., Symmans, A., Johnson, C. L., Mueller, K. A. <strong>'New' clinical features of McLeod syndrome. (Abstract)</strong> Transfusion 22: 404 only, 1982."None>Schwartz et al. (1982)</a> reported areflexia and chorea in the New Zealand family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476009" 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="#17" class="mim-tip-reference" title="Marsh, W. L., Marsh, N. J., Moore, A., Symmans, W. A., Johnson, C. L., Redman, C. M. <strong>Elevated serum creatine phosphokinase in subjects with McLeod syndrome.</strong> Vox Sang. 40: 403-411, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7197431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7197431</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1981.tb00728.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7197431">Marsh et al. (1981)</a> recognized muscle involvement with increased serum creatine kinase and proposed the designation 'McLeod syndrome.' <a href="#9" class="mim-tip-reference" title="Faillace, R. T., Kingston, W. J., Nanda, N. C., Griggs, R. C. <strong>Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis.</strong> Ann. Intern. Med. 96: 616-617, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073157</a>] [<a href="https://doi.org/10.7326/0003-4819-96-5-616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073157">Faillace et al. (1982)</a> noted the presence of McLeod red cells in a patient with amyotrophic chorea and acanthocytosis. <a href="#21" class="mim-tip-reference" title="Swash, M., Schwartz, M. S., Carter, N. D., Heath, R., Leak, M., Rogers, K. L. <strong>Benign X-linked myopathy with acanthocytes (McLeod syndrome): its relationship to X-linked muscular dystrophy.</strong> Brain 106: 717-733, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6685553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6685553</a>] [<a href="https://doi.org/10.1093/brain/106.3.717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6685553">Swash et al. (1983)</a> studied 2 healthy males with the McLeod syndrome. Both had raised creatine kinase levels, with myopathic EMG changes and 'active myopathy' changes on muscle biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7073157+7197431+6685553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with McLeod syndrome who had histopathologic evidence of a mild subclinical myopathy, <a href="#5" class="mim-tip-reference" title="Danek, A., Witt, T. N., Stockmann, H. B. A. C., Weiss, B. J., Schotland, D. L., Fischbeck, K. H. <strong>Normal dystrophin in McLeod myopathy.</strong> Ann. Neurol. 28: 720-722, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260862</a>] [<a href="https://doi.org/10.1002/ana.410280521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2260862">Danek et al. (1990)</a> detected no abnormality by immunologic studies of dystrophin (<a href="/entry/300377">300377</a>) in 2 separate biopsy specimens. Analysis of the dystrophin gene in blood samples detected no abnormality. They concluded that the dystrophin is probably normal and that the mechanism of the myopathy does not involve the dystrophin gene, which is located near at hand on Xp21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Malandrini, A., Fabrizi, G. M., Truschi, F., Di Pietro, G., Moschini, F., Bartalucci, P., Berti, G., Salvadori, C., Bucalossi, A., Guazzi, G. <strong>Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family.</strong> J. Neurol. Sci. 124: 89-94, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7931427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7931427</a>] [<a href="https://doi.org/10.1016/0022-510x(94)90016-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7931427">Malandrini et al. (1994)</a> described 2 brothers and their maternal uncle with 'atypical' McLeod syndrome presenting with a late-onset choreic syndrome mimicking Huntington disease. The proband also suffered from severe dilated cardiomyopathy and showed slight neuromuscular involvement. Acanthocytosis and weak antigenicity of the Kell blood antigen system were present in combination with prominent neurologic involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7931427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> analyzed the mutations and clinical findings of 22 men, aged 27 to 72 years, with McLeod neuroacanthocytosis. All of the patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as indicated by the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features developed with age, mainly after the fourth decade. The resemblance of McLeod syndrome to Huntington disease and to autosomal recessive chorea-acanthocytosis (<a href="/entry/200150">200150</a>) suggested that the corresponding proteins--XK, huntingtin (<a href="/entry/613004">613004</a>), and chorein (<a href="/entry/605978">605978</a>)--may belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Jung, H. H., Danek, A., Frey, B. M. <strong>McLeod syndrome: a neurohaematological disorder.</strong> Vox Sang. 93: 112-121, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17683354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17683354</a>] [<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17683354">Jung et al. (2007)</a> remarked that patients with McLeod syndrome usually show a slow progression of disease, with a mean onset between 30 and 40 years of age. A review of the literature found that disease duration ranged from 7 to 51 years, and mean age at death was 53 years, ranging from 31 to 69 years. Cardiovascular events, epileptic seizures, and aspiration pneumonia might be the major causes of death in older McLeod patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17683354" 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 McLeod syndrome in the family reported by <a href="#22" class="mim-tip-reference" title="Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J. <strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong> Brit. J. Haemat. 42: 575-583, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/476009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">476009</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1979.tb01170.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="476009">Symmans et al. (1979)</a> was consistent with X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=476009" 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="#10" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a> studied a male patient ('patient BB') with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency (CGD; <a href="/entry/306400">306400</a>), McLeod red cell phenotype, Duchenne muscular dystrophy (DMD; 310200), and retinitis pigmentosa (RP3; <a href="/entry/300029">300029</a>). A very subtle hemizygous interstitial deletion of part of chromosome Xp21 was demonstrated. That this was a deletion and not a translocation was demonstrated by the absence of one DNA probe from the genome of the patient. The close clustering of CGD, DMD, and RP suggested by these findings was inconsistent with separate linkage data, which indicated that McLeod and CGD are close to Xg and that DMD and RP are as much as 15 cM from each other and far from Xg (perhaps at least 55 cM). At least 4 possible explanations of the discrepancy were proposed by <a href="#10" class="mim-tip-reference" title="Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J. <strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong> Am. J. Hum. Genet. 37: 250-267, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039107</a>]" pmid="4039107">Francke et al. (1985)</a>. One suggestion was that the deletion contained a single defect affecting perhaps a cell membrane component with the several disorders following thereon. <a href="#14" class="mim-tip-reference" title="Kunkel, L. M., Monaco, A. P., Middlesworth, W., Ochs, H. D., Latt, S. A. <strong>Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.</strong> Proc. Nat. Acad. Sci. 82: 4778-4782, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2991893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2991893</a>] [<a href="https://doi.org/10.1073/pnas.82.14.4778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2991893">Kunkel et al. (1985)</a> mapped the deleted DNA fragment of Xp21 in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4039107+2991893" 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>By fine mapping in a boy with CGD, acanthocytosis, and McLeod syndrome, <a href="#11" class="mim-tip-reference" title="Frey, D., Machler, M., Seger, R., Schmid, W., Orkin, S. H. <strong>Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.</strong> Blood 71: 252-255, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3334897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3334897</a>]" pmid="3334897">Frey et al. (1988)</a> identified a hemizygous deletion on Xp21. They concluded that the CGD and XK loci are physically close in the Xp21 region and are proximal to DMD (<a href="/entry/300377">300377</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3334897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bertelson, C. J., Pogo, A. O., Chaudhuri, A., Marsh, W. L., Redman, C. M., Banerjee, D., Symmans, W. A., Simon, T., Frey, D., Kunkel, L. M. <strong>Localization of the McLeod locus (XK) within Xp21 by deletion analysis.</strong> Am. J. Hum. Genet. 42: 703-711, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358422</a>]" pmid="3358422">Bertelson et al. (1988)</a> studied male patients with the McLeod phenotype with or without CGD or DMD. Comparison of the cloned segments absent from 2 cousins with only the McLeod phenotype with the cloned segments absent from 2 DMD boys and a CGD/McLeod patient led to submapping of various cloned DNA segments within the Xp21 region. The results placed the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus and toward the DMD locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3358422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="de Saint-Basile, G., Bohler, M. C., Fischer, A., Cartron, J., Dufier, J. L., Griscelli, C., Orkin, S. H. <strong>Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.</strong> Hum. Genet. 80: 85-89, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417309</a>] [<a href="https://doi.org/10.1007/BF00451463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3417309">De Saint-Basile et al. (1988)</a> described an instructive patient with CGD, retinitis pigmentosa, and McLeod phenotype, who had no microscopically detectable deletion, but had evidence of deletion on Xp21 with DNA markers. Findings in the mother were consistent with carrier status for all 3 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using nucleotide sequence analysis of the XK gene in 2 unrelated patients with McLeod syndrome, <a href="#12" class="mim-tip-reference" title="Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A. P. <strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong> Cell 77: 869-880, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004674</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004674">Ho et al. (1994)</a> identified point mutations at invariant residues of 5-prime and 3-prime donor sites (e.g., <a href="/entry/314850#0001">314850.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004674" 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 original propositus with McLeod syndrome, <a href="#4" class="mim-tip-reference" title="Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P. <strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong> Ann. Neurol. 50: 755-764, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>] [<a href="https://doi.org/10.1002/ana.10035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761473">Danek et al. (2001)</a> identified a hemizygous 13-bp deletion in the XK gene (<a href="/entry/314850#0006">314850.0006</a>), <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761473" 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>For a time it was thought that in addition to acanthocytosis and compensated hemolytic anemia, chronic granulomatous disease (CGD; <a href="/entry/306400">306400</a>) might result from mutation at the XK locus. Mr. McLeod did not have CGD, but there were some patients with CGD whose red cells showed the McLeod phenotype. It was thought that because of the structural abnormality in the Kx substance of the white cell membrane, activation of NADH dehydrogenase was defective. Some patients with CGD lacked Kx in both white cells and red cells so that acanthocytosis and hemolysis were present in addition to granulomatous disease. This was called CGD II; in CGD I, the red cells are spared. <a href="#18" class="mim-tip-reference" title="Marsh, W. L. <strong>Personal Communication.</strong> New York, N. Y. 11/13/1979."None>Marsh (1979)</a> thought that Kx 'makes a functional structure on leukocytes and red cells' and that XK (or the variant form thereof) is the CGD gene.</p><p><a href="#7" class="mim-tip-reference" title="Densen, P., Wilkinson-Kroovand, S., Mandell, G. L., Sullivan, G., Oyen, R., Marsh, W. L. <strong>Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg.</strong> Blood 58: 34-37, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7236890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7236890</a>]" pmid="7236890">Densen et al. (1981)</a> reported a highly informative family in which 4 of 8 brothers had CGD by clinical history and tests of neutrophil function. All 4 had Kx-negative neutrophils. The remaining 4 were in good health and had normal nitroblue tetrazolium reduction tests. However, 1 of these latter 4 had Kx-negative neutrophils that functioned normally. The findings were interpreted as indicating that closely linked but distinct genes code for CGD and Kx. In addition, close linkage of the XK and Xg loci was demonstrated; no recombinant was found in this sibship. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7236890" 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>It turned out, however, that CGD with the McLeod phenotype is a contiguous gene syndrome, as defined by <a href="#19" class="mim-tip-reference" title="Schmickel, R. D. <strong>Chromosomal deletions and enzyme deficiencies.</strong> J. Pediat. 108: 244-246, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944710</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80991-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944710">Schmickel (1986)</a>, due to the deletion of 2 very closely linked genes, XK and CYBB (<a href="/entry/300481">300481</a>), on Xp21. Indeed, <a href="#3" class="mim-tip-reference" title="Branch, D. R., Gaidulis, L., Lazar, G. S. <strong>Human granulocytes lack red cell Kx antigen.</strong> Brit. J. Haemat. 62: 747-755, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3516199</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1986.tb04098.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3516199">Branch et al. (1986)</a> showed that granulocytes lack Kx antigen. The previous finding of Kx on white cells was presumably due to contamination of the testing serum by anti-WBC antibodies of non-Kx specificity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3516199+3944710" 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="#Wimer1976" class="mim-tip-reference" title="Wimer, B. M., Marsh, W. L., Taswell, H. F. <strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong> American Society of Hematology, Boston, December 1976.">Wimer et al. (1976)</a>
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Allen, F. H., Krabbe, S. M. R., Corcoran, P. A.
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<strong>A new phenotype (McLeod) in the Kell blood-group system.</strong>
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Vox Sang. 6: 555-560, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13860532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13860532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13860532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.1961.tb03203.x" target="_blank">Full Text</a>]
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Bertelson, C. J., Pogo, A. O., Chaudhuri, A., Marsh, W. L., Redman, C. M., Banerjee, D., Symmans, W. A., Simon, T., Frey, D., Kunkel, L. M.
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<strong>Localization of the McLeod locus (XK) within Xp21 by deletion analysis.</strong>
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Am. J. Hum. Genet. 42: 703-711, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3358422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Branch, D. R., Gaidulis, L., Lazar, G. S.
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<strong>Human granulocytes lack red cell Kx antigen.</strong>
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Brit. J. Haemat. 62: 747-755, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3516199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3516199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1986.tb04098.x" target="_blank">Full Text</a>]
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Danek, A., Rubio, J. P., Rampoldi, L., Ho, M., Dobson-Stone, C., Tison, F., Symmans, W. A., Oechsner, M., Kalckreuth, W., Watt, J. M., Corbett, A. J., Hamdalla, H. H. M., Marshall, A. G., Sutton, I., Dotti, M. T., Malandrini, A., Walker, R. H., Daniels, G., Monaco, A. P.
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<strong>McLeod neuroacanthocytosis: genotype and phenotype.</strong>
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Ann. Neurol. 50: 755-764, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761473" 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/ana.10035" target="_blank">Full Text</a>]
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Danek, A., Witt, T. N., Stockmann, H. B. A. C., Weiss, B. J., Schotland, D. L., Fischbeck, K. H.
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<strong>Normal dystrophin in McLeod myopathy.</strong>
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Ann. Neurol. 28: 720-722, 1990.
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[<a href="https://doi.org/10.1002/ana.410280521" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00451463" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(67)90068-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-96-5-616" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(94)90136-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1423-0410.2007.00949.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.82.14.4778" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1968.00480040069007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(94)90016-7" target="_blank">Full Text</a>]
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<strong>Elevated serum creatine phosphokinase in subjects with McLeod syndrome.</strong>
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[<a href="https://doi.org/10.1111/j.1423-0410.1981.tb00728.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80991-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/106.3.717" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1979.tb01170.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38090146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38090146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38090146[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=38090146" 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/10.1177/25152564231210339" target="_blank">Full Text</a>]
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<a id="Wimer1977" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wimer, B. M., Marsh, W. L., Taswell, H. F., Galey, W. R.
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<strong>Haematological changes associated with the McLeod phenotype of the Kell blood group system.</strong>
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Brit. J. Haemat. 36: 219-224, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/871435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">871435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=871435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1977.tb00642.x" target="_blank">Full Text</a>]
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<a id="Wimer1976" class="mim-anchor"></a>
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Wimer, B. M., Marsh, W. L., Taswell, H. F.
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<strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong>
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American Society of Hematology, Boston, December 1976.
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Cassandra L. Kniffin - updated : 03/05/2024
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Anne M. Stumpf - reorganized : 5/2/2011
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Creation Date:
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Anne M. Stumpf : 4/20/2011
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carol : 03/13/2024
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ckniffin : 03/05/2024<br>carol : 02/25/2022<br>carol : 10/18/2016<br>carol : 10/17/2016<br>carol : 08/09/2012<br>carol : 4/24/2012<br>terry : 6/15/2011<br>alopez : 5/3/2011<br>terry : 5/3/2011<br>alopez : 5/2/2011<br>alopez : 4/20/2011
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<strong>#</strong> 300842
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MCLEOD SYNDROME; MCLDS
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<em>Alternative titles; symbols</em>
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MCLEOD PHENOTYPE<br />
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NEUROACANTHOCYTOSIS, MCLEOD TYPE
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<strong>SNOMEDCT:</strong> 115845005, 234411007;
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<strong>ORPHA:</strong> 59306;
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<strong>DO:</strong> 0112107;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xp21.1
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<span class="mim-font">
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McLeod syndrome
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300842
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<span class="mim-font">
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X-linked
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<span class="mim-font">
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3
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XK
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314850
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that McLeod syndrome (MCLDS) is caused by mutation in the XK gene (314850) on chromosome Xp21. The XK gene encodes an antigen of the Kell blood group system (see 110900).</p>
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<strong>Description</strong>
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<p>McLeod syndrome (MCLDS) is an X-linked disorder characterized hematologically by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurodegenerative disorder. Onset of neurologic symptoms ranges between 25 and 60 years (mean onset, 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007). </p>
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<strong>Clinical Features</strong>
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<p>The McLeod phenotype was described by Allen et al. (1961) in a man of that surname. His red cells showed unaccountably weak reactivity to Kell antisera. In 1970, his red cells were noted to be acanthocytic in the absence of abetalipoproteinemia. (The precursor missing in McLeod's red cells is called Kx, and the X-linked gene determining this substance is called Xk). Wimer et al. (1977) restudied the patient reported by Allen et al. (1961) and observed a compensated hemolytic state. Evidence for X-linkage of Xk was provided by mosaicism in females for both acanthocytosis and red cell Kx. The observations showed that some blood group antigenic substances are important to both structure and function of cell membranes. Jung et al. (2007) stated that Hugh McLeod, the original propositus, died at the age of 69 after developing all major McLeod syndrome manifestations, presumably including neurologic deterioration. </p><p>Estes et al. (1967) and Levine et al. (1968) reported a family in which 19 persons in 4 generations had some degree of neurologic abnormalities, 15 with, and 4 without, acanthocytosis. Acanthocytes averaged from 1 to 20% of the total erythrocyte count, and there was no obvious association between the degree of acanthocytosis and the severity of the neurologic disability. There were no demonstrable quantitative defects of low density (beta) or high density (alpha) lipoproteins. Major neurologic symptoms included muscle weakness and atrophy, leg cramps, disturbances of coordination, hyporeflexia, chorea, and seizures. The pattern of inheritance appeared to be autosomal dominant; however, Walker et al. (2023) stated that descendants of the family reported by Levine et al. (1968) had been found to carry mutations in the XK gene, indicating that they had McLeod syndrome. </p><p>Symmans et al. (1979) described the second example of the McLeod phenotype and the first example of a rare blood group being recognized because of a morphologic abnormality of red cells. Heterozygous females showed mosaicism with a normal and an acanthocytic red cell population. Thus, lyonization of this locus occurs even though nonlyonization holds for the Xg (314700) and ichthyosis (steroid sulfatase) loci (308100) which are in the same small segment of Xp. All cases of X-linked CGD (306400) that had been studied had Kx-negative leukocytes (Marsh, 1979). At least two Xg:XK recombinants are known (Tippett, 1981). </p><p>The diagnosis of the McLeod phenotype in a boy with chronic anemia from a large New Zealand family led to the recognition of features such as hemolysis, hepatomegaly, and splenomegaly (Symmans et al., 1979) and proved the previous assumption of X-linked inheritance. Schwartz et al. (1982) reported areflexia and chorea in the New Zealand family. </p><p>Marsh et al. (1981) recognized muscle involvement with increased serum creatine kinase and proposed the designation 'McLeod syndrome.' Faillace et al. (1982) noted the presence of McLeod red cells in a patient with amyotrophic chorea and acanthocytosis. Swash et al. (1983) studied 2 healthy males with the McLeod syndrome. Both had raised creatine kinase levels, with myopathic EMG changes and 'active myopathy' changes on muscle biopsy. </p><p>In a patient with McLeod syndrome who had histopathologic evidence of a mild subclinical myopathy, Danek et al. (1990) detected no abnormality by immunologic studies of dystrophin (300377) in 2 separate biopsy specimens. Analysis of the dystrophin gene in blood samples detected no abnormality. They concluded that the dystrophin is probably normal and that the mechanism of the myopathy does not involve the dystrophin gene, which is located near at hand on Xp21. </p><p>Malandrini et al. (1994) described 2 brothers and their maternal uncle with 'atypical' McLeod syndrome presenting with a late-onset choreic syndrome mimicking Huntington disease. The proband also suffered from severe dilated cardiomyopathy and showed slight neuromuscular involvement. Acanthocytosis and weak antigenicity of the Kell blood antigen system were present in combination with prominent neurologic involvement. </p><p>Danek et al. (2001) analyzed the mutations and clinical findings of 22 men, aged 27 to 72 years, with McLeod neuroacanthocytosis. All of the patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as indicated by the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features developed with age, mainly after the fourth decade. The resemblance of McLeod syndrome to Huntington disease and to autosomal recessive chorea-acanthocytosis (200150) suggested that the corresponding proteins--XK, huntingtin (613004), and chorein (605978)--may belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia. </p><p>Jung et al. (2007) remarked that patients with McLeod syndrome usually show a slow progression of disease, with a mean onset between 30 and 40 years of age. A review of the literature found that disease duration ranged from 7 to 51 years, and mean age at death was 53 years, ranging from 31 to 69 years. Cardiovascular events, epileptic seizures, and aspiration pneumonia might be the major causes of death in older McLeod patients. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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<span class="mim-text-font">
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<p>The transmission pattern of McLeod syndrome in the family reported by Symmans et al. (1979) was consistent with X-linked inheritance. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Francke et al. (1985) studied a male patient ('patient BB') with 3 X-linked disorders: chronic granulomatous disease with cytochrome b(-245) deficiency (CGD; 306400), McLeod red cell phenotype, Duchenne muscular dystrophy (DMD; 310200), and retinitis pigmentosa (RP3; 300029). A very subtle hemizygous interstitial deletion of part of chromosome Xp21 was demonstrated. That this was a deletion and not a translocation was demonstrated by the absence of one DNA probe from the genome of the patient. The close clustering of CGD, DMD, and RP suggested by these findings was inconsistent with separate linkage data, which indicated that McLeod and CGD are close to Xg and that DMD and RP are as much as 15 cM from each other and far from Xg (perhaps at least 55 cM). At least 4 possible explanations of the discrepancy were proposed by Francke et al. (1985). One suggestion was that the deletion contained a single defect affecting perhaps a cell membrane component with the several disorders following thereon. Kunkel et al. (1985) mapped the deleted DNA fragment of Xp21 in this patient. </p><p>By fine mapping in a boy with CGD, acanthocytosis, and McLeod syndrome, Frey et al. (1988) identified a hemizygous deletion on Xp21. They concluded that the CGD and XK loci are physically close in the Xp21 region and are proximal to DMD (300377). </p><p>Bertelson et al. (1988) studied male patients with the McLeod phenotype with or without CGD or DMD. Comparison of the cloned segments absent from 2 cousins with only the McLeod phenotype with the cloned segments absent from 2 DMD boys and a CGD/McLeod patient led to submapping of various cloned DNA segments within the Xp21 region. The results placed the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus and toward the DMD locus. </p><p>De Saint-Basile et al. (1988) described an instructive patient with CGD, retinitis pigmentosa, and McLeod phenotype, who had no microscopically detectable deletion, but had evidence of deletion on Xp21 with DNA markers. Findings in the mother were consistent with carrier status for all 3 disorders. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Using nucleotide sequence analysis of the XK gene in 2 unrelated patients with McLeod syndrome, Ho et al. (1994) identified point mutations at invariant residues of 5-prime and 3-prime donor sites (e.g., 314850.0001). </p><p>In the original propositus with McLeod syndrome, Danek et al. (2001) identified a hemizygous 13-bp deletion in the XK gene (314850.0006), </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>For a time it was thought that in addition to acanthocytosis and compensated hemolytic anemia, chronic granulomatous disease (CGD; 306400) might result from mutation at the XK locus. Mr. McLeod did not have CGD, but there were some patients with CGD whose red cells showed the McLeod phenotype. It was thought that because of the structural abnormality in the Kx substance of the white cell membrane, activation of NADH dehydrogenase was defective. Some patients with CGD lacked Kx in both white cells and red cells so that acanthocytosis and hemolysis were present in addition to granulomatous disease. This was called CGD II; in CGD I, the red cells are spared. Marsh (1979) thought that Kx 'makes a functional structure on leukocytes and red cells' and that XK (or the variant form thereof) is the CGD gene.</p><p>Densen et al. (1981) reported a highly informative family in which 4 of 8 brothers had CGD by clinical history and tests of neutrophil function. All 4 had Kx-negative neutrophils. The remaining 4 were in good health and had normal nitroblue tetrazolium reduction tests. However, 1 of these latter 4 had Kx-negative neutrophils that functioned normally. The findings were interpreted as indicating that closely linked but distinct genes code for CGD and Kx. In addition, close linkage of the XK and Xg loci was demonstrated; no recombinant was found in this sibship. </p><p>It turned out, however, that CGD with the McLeod phenotype is a contiguous gene syndrome, as defined by Schmickel (1986), due to the deletion of 2 very closely linked genes, XK and CYBB (300481), on Xp21. Indeed, Branch et al. (1986) showed that granulocytes lack Kx antigen. The previous finding of Kx on white cells was presumably due to contamination of the testing serum by anti-WBC antibodies of non-Kx specificity. </p>
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Wimer et al. (1976)
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<strong>REFERENCES</strong>
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<strong>A new phenotype (McLeod) in the Kell blood-group system.</strong>
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<strong>Human granulocytes lack red cell Kx antigen.</strong>
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Francke, U., Ochs, H. D., de Martinville, B., Giacalone, J., Lindgren, V., Disteche, C., Pagon, R. A., Hofker, M. H., van Ommen, G.-J. B., Pearson, P. L., Wedgwood, R. J.
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<strong>Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.</strong>
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Am. J. Hum. Genet. 37: 250-267, 1985.
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<strong>Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.</strong>
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<strong>Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.</strong>
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<strong>Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.</strong>
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<strong>Hereditary neurological disease with acanthocytosis: a new syndrome.</strong>
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Malandrini, A., Fabrizi, G. M., Truschi, F., Di Pietro, G., Moschini, F., Bartalucci, P., Berti, G., Salvadori, C., Bucalossi, A., Guazzi, G.
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<strong>Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family.</strong>
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Marsh, W. L., Marsh, N. J., Moore, A., Symmans, W. A., Johnson, C. L., Redman, C. M.
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<strong>Elevated serum creatine phosphokinase in subjects with McLeod syndrome.</strong>
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Vox Sang. 40: 403-411, 1981.
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Marsh, W. L.
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<strong>Personal Communication.</strong>
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New York, N. Y. 11/13/1979.
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<strong>'New' clinical features of McLeod syndrome. (Abstract)</strong>
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Transfusion 22: 404 only, 1982.
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Swash, M., Schwartz, M. S., Carter, N. D., Heath, R., Leak, M., Rogers, K. L.
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<strong>Benign X-linked myopathy with acanthocytes (McLeod syndrome): its relationship to X-linked muscular dystrophy.</strong>
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Brain 106: 717-733, 1983.
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<p class="mim-text-font">
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Symmans, W. A., Shepherd, C. S., Marsh, W. L., Oyen, R., Shohet, S. B., Linehan, B. J.
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<strong>Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.</strong>
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Brit. J. Haemat. 42: 575-583, 1979.
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[PubMed: 476009]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1979.tb01170.x]
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<li>
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<p class="mim-text-font">
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Tippett, P.
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<strong>Personal Communication.</strong>
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London, England 7/1981.
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</p>
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<li>
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<p class="mim-text-font">
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Walker, R. H., Peikert, K., Jung, H. H., Hermann, A., Danek, A.
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<strong>Neuroacanthocytosis syndromes: the clinical perspective.</strong>
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Contact (Thousand Oaks) 6: 25152564231210339, 2023.
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[PubMed: 38090146]
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[Full Text: https://doi.org/10.1177/25152564231210339]
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</li>
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<li>
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<p class="mim-text-font">
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Wimer, B. M., Marsh, W. L., Taswell, H. F., Galey, W. R.
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<strong>Haematological changes associated with the McLeod phenotype of the Kell blood group system.</strong>
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Brit. J. Haemat. 36: 219-224, 1977.
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[PubMed: 871435]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1977.tb00642.x]
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<p class="mim-text-font">
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Wimer, B. M., Marsh, W. L., Taswell, H. F.
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<strong>Clinical characteristics of the McLeod blood group phenotype. (Abstract)</strong>
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American Society of Hematology, Boston, December 1976.
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