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Entry
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- #617013 - HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
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- OMIM
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<p>
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<span class="h4">#617013</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/617013"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS613280"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=HYPERMANGANESEMIA WITH DYSTONIA" 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=27326&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/NBK431123/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/hypermanganesemia-with-dystonia" 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=617013[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=521406" 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="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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080537" 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/617013" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080537" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 768554008<br />
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<strong>ORPHA:</strong> 521406<br />
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<strong>DO:</strong> 0080537<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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617013
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</span>
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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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HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<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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<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/8/113?start=-3&limit=10&highlight=113">
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8p21.3
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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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Hypermanganesemia with dystonia 2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/617013"> 617013 </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="Autosomal recessive">AR</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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SLC39A14
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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/608736"> 608736 </a>
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</span>
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</td>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/617013" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS613280" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/617013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/617013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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> HEAD & NECK </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">
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<em> Head </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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- Microcephaly, acquired (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253130001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253130001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005484</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005484</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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<span class="h5 mim-font">
|
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<em> Mouth </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Oromandibular dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2242577&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242577</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012048</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> SKELETAL </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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|
|
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
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|
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</span>
|
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Spine </em>
|
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</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Axial hypotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span><br /> -
|
|
Hypertonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
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</div>
|
|
|
|
|
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|
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|
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<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">
|
|
|
|
- Developmental regression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609225004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span><br /> -
|
|
Developmental delay (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Intellectual disability, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230864</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Learning disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408468001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408468001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321592</a>, <a href="https://bioportal.bioontology.org/search?q=C0751265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751265</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br /> -
|
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Bulbar dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839041</a>]</span><br /> -
|
|
Poor or absent speech (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
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Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
|
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Abnormal gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
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Scissoring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64973003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64973003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3890157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3890157</a>, <a href="https://bioportal.bioontology.org/search?q=C0175735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175735</a>]</span><br /> -
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Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
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Ankle clonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39055007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39055007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011448</a>]</span><br /> -
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Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
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Bulbar dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839041</a>]</span><br /> -
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Loss of independent ambulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278950</a>]</span><br /> -
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Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
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Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
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Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
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Dyskinetic movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678069</a>]</span><br /> -
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Mn deposition in the deep gray matter and white matter seen on brain MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830132</a>]</span><br /> -
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Hyperintensities in basal ganglia seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830133</a>]</span><br /> -
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Cerebral atrophy (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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Cerebellar atrophy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Increased blood manganese <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0855887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0855887</a>]</span><br /> -
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Low serum iron <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165623008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165623008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235988</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040303</a>]</span><br /> -
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Low transferrin saturation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830747</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or first years of life<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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- Caused by mutation in the solute carrier family 39 (zinc transporter), member 14 gene (SLC39A14, <a href="/entry/608736#0001">608736.0001</a>).<br />
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Hypermanganesemia with dystonia
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- <a href="/phenotypicSeries/PS613280">PS613280</a>
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- 2 Entries
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<a href="/geneMap/1/1714?start=-3&limit=10&highlight=1714"> 1q41 </a>
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<a href="/entry/613280"> Hypermanganesemia with dystonia 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/613280"> 613280 </a>
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<a href="/entry/611146"> SLC30A10 </a>
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<a href="/entry/611146"> 611146 </a>
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<a href="/geneMap/8/113?start=-3&limit=10&highlight=113"> 8p21.3 </a>
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<a href="/entry/617013"> Hypermanganesemia with dystonia 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/617013"> 617013 </a>
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<a href="/entry/608736"> SLC39A14 </a>
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<span class="mim-font">
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<a href="/entry/608736"> 608736 </a>
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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 hypermanganesemia with dystonia-2 (HMNDYT2) is caused by homozygous mutation in the SLC39A14 gene (<a href="/entry/608736">608736</a>) on chromosome 8p21.</p>
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<p>Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by <a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (<a href="/entry/613280">613280</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> reported 9 children from 5 unrelated consanguineous families with a severe neurodegenerative disorder with loss of developmental milestones and progressive dystonia appearing between 6 months and 3 years of age. By the end of the first decade, they had generalized pharmacoresistant dystonia, limb contractures and scoliosis, and loss of independent ambulation. More variable neurologic features included spasticity, oromandibular or bulbar dysfunction, axial hypotonia, and parkinsonism, with hypomimia, tremor, and bradykinesia. Cognition was highly variable: 2 sibs had intellectual disability, were nonverbal, and were unable to follow commands; 3 sibs from another family had learning disabilities only; 1 only child was cognitively normal; another only child did not achieve language; and 2 sibs from another family were not noted to have cognitive defects but were lost to follow-up. Brain MRI showed Mn deposition in the deep gray matter, including the globus pallidus and, to a lesser extent, the striatum, with sparing of the thalamus. There was also extensive white matter involvement including the cerebellum, spinal cord, and dorsal pons. Some patients had evidence of cerebral and cerebellar atrophy. Whole blood levels of Mn were markedly increased compared to controls, whereas iron, zinc, and cadmium levels, assessed in 2 patients, were normal. None of the patients developed polycythemia or liver disease, and liver imaging of 1 patient was normal. Three patients died at ages 13 months, 4 years, and 8 years. Postmortem examination of the patient who died at age 4 years showed neuronal loss in the globus pallidus, with relative preservation of neurons in the cortex, caudate, putamen, and thalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others. <strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong> Molec. Psychiat. 22: 615-624, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431290</a>] [<a href="https://doi.org/10.1038/mp.2016.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431290">Anazi et al. (2017)</a> reported a 24-month-old patient who had developmental regression at 9 months of age. On examination, she had microcephaly, hypertonia, and hyperreflexia. Brain MRI demonstrated abnormal signal intensity of the globus pallidus, and an EMG and nerve conduction study demonstrated radiculoneuropathy affecting the upper limbs and axonal neuropathy of the lower limbs. Laboratory testing showed elevated manganese in the plasma and whole blood, low serum iron, and low transferrin saturation. She had a similarly affected, deceased sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431290" 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="Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B. <strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong> Molec. Genet. Metab. 124: 161-167, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29685658">Rodan et al. (2018)</a> reported 2 unrelated children from the United Arab Emirates with HMNDYT2. Patient 1, born to consanguineous parents, had early developmental delay and required a feeding tube for failure to thrive. An early brain MRI showed T1 hyperintensities in the globus pallidus and substantia nigra. She had elevated serum manganese and normal liver function testing. She developed progressive dystonia and dysarthria with spared intellectual functioning. Brain MRI at age 7 years showed mineralization evidenced as T1 hyperintensities of the basal ganglia, hypothalamus, anterior commissure, amygdala, cerebral peduncles, and other brain regions. Patient 2 had normal early development with rapid developmental regression at 18 months of age. She also had elevated serum manganese with normal liver function. She developed a progressive movement disorder and progressive brain mineralization, but was lost to follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29685658" 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="Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M. <strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong> J. Gene Med. 20: e3012, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29498153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29498153</a>] [<a href="https://doi.org/10.1002/jgm.3012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29498153">Juneja et al. (2018)</a> reported a 1-year-old patient who had developmental regression at 9 months of age and the development of hypotonia and paucity of movements. She then developed dystonia of the upper and lower limbs. On examination at 1 year of age she had increased tone, dystonia of the limbs and trunk, spasticity, and brisk deep tendon reflexes. Brain MRI showed bilateral abnormalities in the globus pallidus, periventricular region, subcortical area, cerebellar white matter and corpus callosum. Blood manganese levels were elevated and iron levels were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29498153" 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="Zeglam, A., Abugrara, A., Kabuka, M. <strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong> Acta Neurol. Belg. 119: 379-384, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>] [<a href="https://doi.org/10.1007/s13760-018-1024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30232769">Zeglam et al. (2019)</a> reported a patient who presented with unsteady gait and stiff muscles at 30 months of age and recent onset of difficulty swallowing. On examination at 3 years of age, her speech was difficult to understand, and she had increased muscle tone and generalized dystonia. Laboratory studies demonstrated low serum iron, iron deficiency anemia, and elevated blood manganese levels. A brain MRI showed abnormal signal in the brainstem and basal ganglia lentiform nucleus with an 'eye of the tiger' appearance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D. <strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong> Mov. Disord. Clin. Pract. 7: 569-570, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32626807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32626807</a>] [<a href="https://doi.org/10.1002/mdc3.12947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32626807">Namnah et al. (2020)</a> reported a 65-year-old woman with a long history of dysarthria and dystonia. She had changes in her handwriting starting at 18 years of age, with impaired gait and balance and unintelligible speech developing the following year. She remained stable from a clinical standpoint for the following 4 decades. On examination, she had impaired ocular convergence, dysarthria, bradykinesia, dystonia, and gait spasticity. Brain MRI demonstrated hyperintense lesions in the basal ganglia and subcortical white matter. 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<p><a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> found that 1 patient with HMNDYT2 who began treatment with a Mn chelator at age 5 years showed dramatic clinical improvement and regained the ability to walk. In contrast, an unrelated patient who began treatment at age 17 years showed reduction of blood Mn levels, but continued to deteriorate in motor function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others. <strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong> Molec. Psychiat. 22: 615-624, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431290</a>] [<a href="https://doi.org/10.1038/mp.2016.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431290">Anazi et al. (2017)</a> reported a 24-month-old patient who had HMNDYT2 and elevated manganese in the plasma and whole blood. After treatment with calcium disodium EDTA for chelation, she had improvement in her blood manganese level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431290" 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="Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B. <strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong> Molec. Genet. Metab. 124: 161-167, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29685658">Rodan et al. (2018)</a> reported a 9-year-old girl from the United Arab Emirates with HMNDYT2 who began chelation therapy at the age of 5 years and had reduced urine levels of manganese but unchanged plasma levels of manganese. The patient was treated intermittently because she returned for long periods to the UAE. The authors suspected that she had clinical stabilization associated with the chelation therapy, because when therapy was stopped, she had significant acceleration of symptoms. The patient was also treated with a manganese-depleted formula starting at 7 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29685658" 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 HMNDYT2 in the families reported by <a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 8 patients from 5 unrelated consanguineous families with HMNDYT2, <a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> identified 5 different homozygous mutations in the SLC39A14 gene (<a href="/entry/608736#0001">608736.0001</a>-<a href="/entry/608736#0005">608736.0005</a>), including 2 truncating and 3 missense mutations. Transfection of the missense mutations in HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. One of the patients had a mutation that affected only isoform 2, which is not expressed in the brain. However, the phenotype of this patient was similar to that of the other patients, suggesting that cerebral deposition of Mn in this disorder arises secondarily from an increased systemic load of Mn rather than from a primary defect of Mn clearance in the brain. <a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> postulated that loss-of-function mutations in SLC39A14 lead to impaired hepatic Mn uptake with resultant hypermanganesemia and downstream neurotoxic effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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 whole-exome sequencing in 2 unrelated children from the United Arab Emirates, <a href="#4" class="mim-tip-reference" title="Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B. <strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong> Molec. Genet. Metab. 124: 161-167, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29685658">Rodan et al. (2018)</a> identified homozygosity for the same intronic mutation in the SLC39A14 gene (<a href="/entry/608736#0007">608736.0007</a>). The parents of 1 patient were confirmed to be heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29685658" 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 1-year-old girl with HMNDYT2, <a href="#2" class="mim-tip-reference" title="Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M. <strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong> J. Gene Med. 20: e3012, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29498153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29498153</a>] [<a href="https://doi.org/10.1002/jgm.3012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29498153">Juneja et al. (2018)</a> identified a homozygous missense mutation in the SLC39A14 gene (R128W; <a href="/entry/608736#0008">608736.0008</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29498153" 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 an Arab Libyan patient, born to consanguineous parents, with HMNDYT2, <a href="#6" class="mim-tip-reference" title="Zeglam, A., Abugrara, A., Kabuka, M. <strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong> Acta Neurol. Belg. 119: 379-384, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>] [<a href="https://doi.org/10.1007/s13760-018-1024-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30232769">Zeglam et al. (2019)</a> identified a homozygous missense mutation in the SLC39A14 gene (P379L; <a href="/entry/608736#0009">608736.0009</a>). The mutation was found by whole-exome sequencing. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" 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 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with HMNDYT2, <a href="#3" class="mim-tip-reference" title="Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D. <strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong> Mov. Disord. Clin. Pract. 7: 569-570, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32626807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32626807</a>] [<a href="https://doi.org/10.1002/mdc3.12947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32626807">Namnah et al. (2020)</a> identified a homozygous missense mutation in the SLC39A14 gene (G356S; <a href="/entry/608736#0010">608736.0010</a>). The mutation was found by whole-exome sequencing. Functional studies were not performed. The patient had a clinical history of long-term dysarthria and dystonia and an elevated blood manganese level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32626807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others. <strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong> Nature Commun. 7: 11601, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncomms11601" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27231142">Tuschl et al. (2016)</a> found that knockdown of the slc39a14 gene in zebrafish resulted in increased Mn levels, but unchanged Fe, Zn, and Cd levels. The mutant animals survived into adulthood without any obvious morphologic or developmental defects. However, exposure to Mn resulted in decreased locomotor activity and increased sensitivity to Mn-induced toxicity compared to wildtype. Mn accumulated predominantly in the brain of mutant animals, but not in the viscera. Treatment of mutant larvae with a chelator resulted in decreased levels of Mn uptake. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27231142" 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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<strong>REFERENCES</strong>
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<a id="Anazi2017" class="mim-anchor"></a>
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Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others.
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<strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong>
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Molec. Psychiat. 22: 615-624, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431290" 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/10.1038/mp.2016.113" target="_blank">Full Text</a>]
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<a id="Juneja2018" class="mim-anchor"></a>
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Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M.
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<strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong>
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J. Gene Med. 20: e3012, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29498153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29498153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29498153" 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/jgm.3012" target="_blank">Full Text</a>]
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<a id="Namnah2020" class="mim-anchor"></a>
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Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D.
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<strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong>
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Mov. Disord. Clin. Pract. 7: 569-570, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32626807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32626807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32626807" 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/mdc3.12947" target="_blank">Full Text</a>]
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<a id="Rodan2018" class="mim-anchor"></a>
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Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B.
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<strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong>
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Molec. Genet. Metab. 124: 161-167, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29685658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29685658</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29685658[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=29685658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2018.04.002" target="_blank">Full Text</a>]
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Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others.
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<strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong>
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Nature Commun. 7: 11601, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27231142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27231142</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27231142[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=27231142" 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/10.1038/ncomms11601" target="_blank">Full Text</a>]
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Zeglam, A., Abugrara, A., Kabuka, M.
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<strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong>
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Acta Neurol. Belg. 119: 379-384, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30232769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30232769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30232769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s13760-018-1024-7" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 01/18/2022
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Hilary J. Vernon - updated : 04/28/2020
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Cassandra L. Kniffin : 6/29/2016
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carol : 10/02/2024
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carol : 01/20/2022<br>carol : 01/19/2022<br>carol : 01/18/2022<br>carol : 04/28/2020<br>carol : 07/08/2016<br>carol : 7/7/2016<br>ckniffin : 6/30/2016
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<strong>#</strong> 617013
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HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
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<strong>SNOMEDCT:</strong> 768554008;
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<strong>ORPHA:</strong> 521406;
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<strong>DO:</strong> 0080537;
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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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8p21.3
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Hypermanganesemia with dystonia 2
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617013
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Autosomal recessive
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3
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SLC39A14
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608736
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hypermanganesemia with dystonia-2 (HMNDYT2) is caused by homozygous mutation in the SLC39A14 gene (608736) on chromosome 8p21.</p>
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<strong>Description</strong>
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<p>Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016). </p><p>For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (613280).</p>
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<strong>Clinical Features</strong>
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<p>Tuschl et al. (2016) reported 9 children from 5 unrelated consanguineous families with a severe neurodegenerative disorder with loss of developmental milestones and progressive dystonia appearing between 6 months and 3 years of age. By the end of the first decade, they had generalized pharmacoresistant dystonia, limb contractures and scoliosis, and loss of independent ambulation. More variable neurologic features included spasticity, oromandibular or bulbar dysfunction, axial hypotonia, and parkinsonism, with hypomimia, tremor, and bradykinesia. Cognition was highly variable: 2 sibs had intellectual disability, were nonverbal, and were unable to follow commands; 3 sibs from another family had learning disabilities only; 1 only child was cognitively normal; another only child did not achieve language; and 2 sibs from another family were not noted to have cognitive defects but were lost to follow-up. Brain MRI showed Mn deposition in the deep gray matter, including the globus pallidus and, to a lesser extent, the striatum, with sparing of the thalamus. There was also extensive white matter involvement including the cerebellum, spinal cord, and dorsal pons. Some patients had evidence of cerebral and cerebellar atrophy. Whole blood levels of Mn were markedly increased compared to controls, whereas iron, zinc, and cadmium levels, assessed in 2 patients, were normal. None of the patients developed polycythemia or liver disease, and liver imaging of 1 patient was normal. Three patients died at ages 13 months, 4 years, and 8 years. Postmortem examination of the patient who died at age 4 years showed neuronal loss in the globus pallidus, with relative preservation of neurons in the cortex, caudate, putamen, and thalamus. </p><p>Anazi et al. (2017) reported a 24-month-old patient who had developmental regression at 9 months of age. On examination, she had microcephaly, hypertonia, and hyperreflexia. Brain MRI demonstrated abnormal signal intensity of the globus pallidus, and an EMG and nerve conduction study demonstrated radiculoneuropathy affecting the upper limbs and axonal neuropathy of the lower limbs. Laboratory testing showed elevated manganese in the plasma and whole blood, low serum iron, and low transferrin saturation. She had a similarly affected, deceased sister. </p><p>Rodan et al. (2018) reported 2 unrelated children from the United Arab Emirates with HMNDYT2. Patient 1, born to consanguineous parents, had early developmental delay and required a feeding tube for failure to thrive. An early brain MRI showed T1 hyperintensities in the globus pallidus and substantia nigra. She had elevated serum manganese and normal liver function testing. She developed progressive dystonia and dysarthria with spared intellectual functioning. Brain MRI at age 7 years showed mineralization evidenced as T1 hyperintensities of the basal ganglia, hypothalamus, anterior commissure, amygdala, cerebral peduncles, and other brain regions. Patient 2 had normal early development with rapid developmental regression at 18 months of age. She also had elevated serum manganese with normal liver function. She developed a progressive movement disorder and progressive brain mineralization, but was lost to follow-up. </p><p>Juneja et al. (2018) reported a 1-year-old patient who had developmental regression at 9 months of age and the development of hypotonia and paucity of movements. She then developed dystonia of the upper and lower limbs. On examination at 1 year of age she had increased tone, dystonia of the limbs and trunk, spasticity, and brisk deep tendon reflexes. Brain MRI showed bilateral abnormalities in the globus pallidus, periventricular region, subcortical area, cerebellar white matter and corpus callosum. Blood manganese levels were elevated and iron levels were normal. </p><p>Zeglam et al. (2019) reported a patient who presented with unsteady gait and stiff muscles at 30 months of age and recent onset of difficulty swallowing. On examination at 3 years of age, her speech was difficult to understand, and she had increased muscle tone and generalized dystonia. Laboratory studies demonstrated low serum iron, iron deficiency anemia, and elevated blood manganese levels. A brain MRI showed abnormal signal in the brainstem and basal ganglia lentiform nucleus with an 'eye of the tiger' appearance. </p><p>Namnah et al. (2020) reported a 65-year-old woman with a long history of dysarthria and dystonia. She had changes in her handwriting starting at 18 years of age, with impaired gait and balance and unintelligible speech developing the following year. She remained stable from a clinical standpoint for the following 4 decades. On examination, she had impaired ocular convergence, dysarthria, bradykinesia, dystonia, and gait spasticity. Brain MRI demonstrated hyperintense lesions in the basal ganglia and subcortical white matter. Laboratory studies showed elevated blood manganese levels. </p>
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<p>Tuschl et al. (2016) found that 1 patient with HMNDYT2 who began treatment with a Mn chelator at age 5 years showed dramatic clinical improvement and regained the ability to walk. In contrast, an unrelated patient who began treatment at age 17 years showed reduction of blood Mn levels, but continued to deteriorate in motor function. </p><p>Anazi et al. (2017) reported a 24-month-old patient who had HMNDYT2 and elevated manganese in the plasma and whole blood. After treatment with calcium disodium EDTA for chelation, she had improvement in her blood manganese level. </p><p>Rodan et al. (2018) reported a 9-year-old girl from the United Arab Emirates with HMNDYT2 who began chelation therapy at the age of 5 years and had reduced urine levels of manganese but unchanged plasma levels of manganese. The patient was treated intermittently because she returned for long periods to the UAE. The authors suspected that she had clinical stabilization associated with the chelation therapy, because when therapy was stopped, she had significant acceleration of symptoms. The patient was also treated with a manganese-depleted formula starting at 7 years of age. </p>
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<p>The transmission pattern of HMNDYT2 in the families reported by Tuschl et al. (2016) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 8 patients from 5 unrelated consanguineous families with HMNDYT2, Tuschl et al. (2016) identified 5 different homozygous mutations in the SLC39A14 gene (608736.0001-608736.0005), including 2 truncating and 3 missense mutations. Transfection of the missense mutations in HEK293 cells showed that the mutant protein was expressed and localized normally, but resulted in decreased Mn uptake compared to wildtype, consistent with a loss of function. One of the patients had a mutation that affected only isoform 2, which is not expressed in the brain. However, the phenotype of this patient was similar to that of the other patients, suggesting that cerebral deposition of Mn in this disorder arises secondarily from an increased systemic load of Mn rather than from a primary defect of Mn clearance in the brain. Tuschl et al. (2016) postulated that loss-of-function mutations in SLC39A14 lead to impaired hepatic Mn uptake with resultant hypermanganesemia and downstream neurotoxic effects. </p><p>By whole-exome sequencing in 2 unrelated children from the United Arab Emirates, Rodan et al. (2018) identified homozygosity for the same intronic mutation in the SLC39A14 gene (608736.0007). The parents of 1 patient were confirmed to be heterozygous for the mutation. </p><p>In a 1-year-old girl with HMNDYT2, Juneja et al. (2018) identified a homozygous missense mutation in the SLC39A14 gene (R128W; 608736.0008). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. Functional studies were not performed. </p><p>In an Arab Libyan patient, born to consanguineous parents, with HMNDYT2, Zeglam et al. (2019) identified a homozygous missense mutation in the SLC39A14 gene (P379L; 608736.0009). The mutation was found by whole-exome sequencing. Functional studies were not performed. </p><p>In a 65-year-old Ashkenazi Jewish woman, born to consanguineous parents, with HMNDYT2, Namnah et al. (2020) identified a homozygous missense mutation in the SLC39A14 gene (G356S; 608736.0010). The mutation was found by whole-exome sequencing. Functional studies were not performed. The patient had a clinical history of long-term dysarthria and dystonia and an elevated blood manganese level. </p>
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<p>Tuschl et al. (2016) found that knockdown of the slc39a14 gene in zebrafish resulted in increased Mn levels, but unchanged Fe, Zn, and Cd levels. The mutant animals survived into adulthood without any obvious morphologic or developmental defects. However, exposure to Mn resulted in decreased locomotor activity and increased sensitivity to Mn-induced toxicity compared to wildtype. Mn accumulated predominantly in the brain of mutant animals, but not in the viscera. Treatment of mutant larvae with a chelator resulted in decreased levels of Mn uptake. </p>
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<strong>REFERENCES</strong>
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Anazi, S., Maddirevula, S., Faqeih, E., Alsedairy, H., Alzahrani, F., Shamseldin, H. E., Patel, N., Hashem, M., Ibrahim, N., Abdulwahab, F., Ewida, N., Alsaif, H. S., and 36 others.
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<strong>Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.</strong>
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Molec. Psychiat. 22: 615-624, 2017.
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[PubMed: 27431290]
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[Full Text: https://doi.org/10.1038/mp.2016.113]
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Juneja, M., Shamim, U., Joshi, A., Mathur, A., Uppili, B., Sairam, S., Ambawat, S., Dixit, R., Faruq, M.
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<strong>A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.</strong>
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J. Gene Med. 20: e3012, 2018.
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[PubMed: 29498153]
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[Full Text: https://doi.org/10.1002/jgm.3012]
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Namnah, M., Bauer, M., Mor-Shaked, H., Bressman, S. B., Raymond, D., Ozelius, L. J., Arkadir, D.
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<strong>Benign SLC39A14 course of dystonia-parkinsonism secondary to inherited manganese accumulation. (Letter)</strong>
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Mov. Disord. Clin. Pract. 7: 569-570, 2020.
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[PubMed: 32626807]
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[Full Text: https://doi.org/10.1002/mdc3.12947]
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Rodan, L. H., Hauptman, M., D'Gama, A. M., Qualls, A. E., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S. J., Wessling-Resnick, M., Yang, E. T., Berry, G. T., Gropman, A., Woolf, A. D., Agrawal, P. B.
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<strong>Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies.</strong>
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Molec. Genet. Metab. 124: 161-167, 2018.
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[PubMed: 29685658]
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[Full Text: https://doi.org/10.1016/j.ymgme.2018.04.002]
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Tuschl, K., Meyer, E., Valdivia, L. E., Zhao, N., Dadswell, C., Abdul-Sada, A., Hung, C. Y., Simpson, M. A., Chong, W. K., Jacques, T. S., Woltjer, R. L., Eaton, S., 28 others.
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<strong>Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.</strong>
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Nature Commun. 7: 11601, 2016. Note: Electronic Article.
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[PubMed: 27231142]
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[Full Text: https://doi.org/10.1038/ncomms11601]
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Zeglam, A., Abugrara, A., Kabuka, M.
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<strong>Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.</strong>
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Acta Neurol. Belg. 119: 379-384, 2019.
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[PubMed: 30232769]
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[Full Text: https://doi.org/10.1007/s13760-018-1024-7]
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Hilary J. Vernon - updated : 01/18/2022<br>Hilary J. Vernon - updated : 04/28/2020
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