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<title>
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Entry
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- #188580 - THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
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- OMIM
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<span class="h4">#188580</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS188580"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11144&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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79102" 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="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79102<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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188580
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
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</h3>
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</div>
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<div>
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<br />
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</div>
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<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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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558">
|
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1q32.1
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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{Thyrotoxic periodic paralysis, susceptibility to, 1}
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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/188580"> 188580 </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 dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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CACNA1S
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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/114208"> 114208 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/188580" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS188580" 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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/188580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/188580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
<div>
|
|
<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Weight loss due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806053</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89362005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89362005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/816160009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">816160009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262285001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262285001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161832001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161832001</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.21</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Exophthalmos due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806054</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tachycardia due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806056</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86651002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86651002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3424008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3424008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001649" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001649</a>]</span><br /> -
|
|
Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertension due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194146</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle paralysis, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806047</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416660001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416660001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/241702005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">241702005</a>]</span><br /> -
|
|
Muscle weakness, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806048&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806048</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
|
|
Lower limbs more often affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806049</a>]</span><br /> -
|
|
Proximal muscles more often affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806050</a>]</span><br /> -
|
|
Recovery between attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806051</a>]</span><br /> -
|
|
Muscle aches, cramps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806052&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806052</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tremor due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806045&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806045</a>]</span> <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">[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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypo- or areflexia during attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806046</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> METABOLIC FEATURES </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 sweating due to hyperthyroidism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806063</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415691001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415691001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52613005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52613005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R61</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000975" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000975</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> ENDOCRINE FEATURES </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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- Goiter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3716002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3716002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E04.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E04.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/240.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">240.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span><br /> -
|
|
Enlarged thyroid gland <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3716002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3716002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E04.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E04.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/240.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">240.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000853" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000853</a>]</span><br /> -
|
|
Hyperthyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34486009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34486009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E05.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000836</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000836" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000836</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypokalemia during attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806055</a>]</span><br /> -
|
|
Increased thyroid hormone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1328578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1328578</a>]</span><br /> -
|
|
Decreased TSH <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241513&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241513</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
|
More frequent in males<br /> -
|
|
Usually occurs in young adulthood<br /> -
|
|
Muscle weakness occurs only in the presence of hyperthyroidism<br /> -
|
|
More frequent in individuals of Asian descent<br /> -
|
|
Complete recovery upon treatment of hyperthyroidism<br /> -
|
|
Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868448</a>]</span><br /> -
|
|
Attacks may present during or after sleep <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868449</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Susceptibility conferred by mutation in the voltage-dependent calcium channel, L type, alpha-1S subunit gene (CACNA1S, <a href="/entry/114208#0005">114208.0005</a>)<br />
|
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|
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</span>
|
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</div>
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|
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Thyrotoxic periodic paralysis
|
|
- <a href="/phenotypicSeries/PS188580">PS188580</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188580"> {Thyrotoxic periodic paralysis, susceptibility to, 1} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188580"> 188580 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> CACNA1S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> 114208 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/311?start=-3&limit=10&highlight=311"> 17p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613239"> {Thyrotoxic periodic paralysis, susceptibility to, 2} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613239"> 613239 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613236"> KCNJ18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613236"> 613236 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/888?start=-3&limit=10&highlight=888"> 17q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614834"> {Thyrotoxic periodic paralysis, susceptibility to, 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614834"> 614834 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614834"> TTPP3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614834"> 614834 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
|
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|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</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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<br />
|
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</div>
|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to thyrotoxic periodic paralysis-1 (TTPP1) is conferred by variation in the CACNA1S gene on chromosome 1q32.</p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; <a href="/entry/170400">170400</a>), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by <a href="#9" class="mim-tip-reference" title="Kung, A. W. C. <strong>Clinical review: thyrotoxic periodic paralysis: a diagnostic challenge.</strong> J. Clin. Endocr. Metab. 91: 2490-2495, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16608889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16608889</a>] [<a href="https://doi.org/10.1210/jc.2006-0356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16608889">Kung, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16608889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Thyrotoxic Periodic Paralysis</em></strong></p><p>
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See also TTPP2 (<a href="/entry/613239">613239</a>), conferred by variation in the KCNJ18 gene (<a href="/entry/613236">613236</a>) on chromosome 17p11, and TTPP3 (<a href="/entry/614834">614834</a>), mapped to chromosome 17q24.</p>
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<p>Among 1,366 consecutive Southern Chinese patients with thyrotoxicosis, <a href="#13" class="mim-tip-reference" title="McFadzean, A. J. S., Yeung, R. <strong>Periodic paralysis complicating thyrotoxicosis in Chinese.</strong> Brit. Med. J. 1: 451-455, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6017520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6017520</a>] [<a href="https://doi.org/10.1136/bmj.1.5538.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6017520">McFadzean and Yeung (1967)</a> found that 25 had a history of 1 or more attacks of periodic paralysis, and that 23 of the 25 were male. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6017520" 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="Bernard, J. D., Larson, M. A., Norris, F. H., Jr. <strong>Thyrotoxic periodic paralysis in Californians of Mexican and Filipino ancestry.</strong> Calif. Med. 116: 70-74, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5059669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5059669</a>]" pmid="5059669">Bernard et al. (1972)</a> reported thyrotoxic periodic paralysis in 5 unrelated Californian males of Japanese, Mexican, and Filipino descent. The patients ranged in age from 18 to 36 years. All presented with a chief complaint of periodic muscle weakness and paralysis in the lower limbs, often occurring at night or in the morning or after a large meal. All were subsequently found to have variable clinical features of hyperthyroidism, including palpitations, hypertension, increased heart rate, nervousness, sweating, and weight loss. However, some of the patients had very mild features of hyperthyroidism. When measured, serum potassium was very low during the episodes. All patients had complete recovery after proper treatment for hyperthyroidism, and most had no significant family history. <a href="#3" class="mim-tip-reference" title="Bernard, J. D., Larson, M. A., Norris, F. H., Jr. <strong>Thyrotoxic periodic paralysis in Californians of Mexican and Filipino ancestry.</strong> Calif. Med. 116: 70-74, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5059669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5059669</a>]" pmid="5059669">Bernard et al. (1972)</a> noted that some patients may have subtle or even absent clinical signs of hyperthyroidism, which should be evaluated by laboratory studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5059669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Layzer, R. B., Goldfield, E. <strong>Periodic paralysis caused by abuse of thyroid hormone.</strong> Neurology 24: 949-952, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4472229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4472229</a>] [<a href="https://doi.org/10.1212/wnl.24.10.949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4472229">Layzer and Goldfield (1974)</a> observed periodic paralysis in a Japanese-American male who 'abused' thyroid hormone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4472229" 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="Ali, K. <strong>Hypokalaemic periodic paralysis complicating thyrotoxicosis.</strong> Brit. Med. J. 4: 503-504, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1192145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1192145</a>] [<a href="https://doi.org/10.1136/bmj.4.5995.503-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1192145">Ali (1975)</a> reported a 30-year-old man of Scottish descent who presented with weight loss, palpitations, sweating, and heat intolerance over 18 months. He also reported episodic attacks of weakness in the legs that usually occurred after awakening, but could come at any time. He had no weakness between attacks. There was no relevant family history. Physical examination showed thyrotoxicosis, with exophthalmos, an enlarged thyroid gland, and hyperreflexia. During an attack, serum potassium was severely depleted and he had complete flaccid paralysis from the waist down associated with absent reflexes. Proper treatment of the hyperthyroidism resulted in complete clinical recovery with no further episodes of paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1192145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Leung, A. K. C. <strong>Familial 'hashitoxic' periodic paralysis.</strong> J. Roy. Soc. Med. 78: 638-640, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839536</a>] [<a href="https://doi.org/10.1177/014107688507800808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839536">Leung (1985)</a> observed thyrotoxicosis and periodic paralysis in 4 adult members of a Chinese family: a mother and 3 children, including 2 males and 1 female. Two had Graves disease (<a href="/entry/275000">275000</a>) and Hashimoto thyroiditis (<a href="/entry/140300">140300</a>) as evidenced by the presence of thyroid antibodies and elevated thyroxine levels. The other 2 were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kilpatrick, R. E., Seiler-Smith, S., Levine, S. N. <strong>Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males.</strong> Thyroid 4: 441-445, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7711509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7711509</a>] [<a href="https://doi.org/10.1089/thy.1994.4.441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7711509">Kilpatrick et al. (1994)</a> found 6 reports of thyrotoxic hypokalemic periodic paralysis in African Americans and described 4 additional cases, all in males. They concluded that the disorder may be more frequent in blacks than previously suspected and should be considered when patients present with unexplained hypokalemia, muscular weakness, and rhabdomyolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7711509" 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 specific genetic basis for TTPP is suggested by the fact that although occasional cases occur in Caucasians (e.g., <a href="#1" class="mim-tip-reference" title="Ali, K. <strong>Hypokalaemic periodic paralysis complicating thyrotoxicosis.</strong> Brit. Med. J. 4: 503-504, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1192145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1192145</a>] [<a href="https://doi.org/10.1136/bmj.4.5995.503-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1192145">Ali, 1975</a>; <a href="#15" class="mim-tip-reference" title="Shah, N., Kussman, M. J., Tulgan, H. <strong>Familial periodic paralysis and hyperthyroidism.</strong> New York J. Med. 79: 1770-1771, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/290877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">290877</a>]" pmid="290877">Shah et al., 1979</a>), the disorder is seen predominantly in Asians. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1192145+290877" 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="#5" class="mim-tip-reference" title="Hsu, T. H. <strong>Personal Communication.</strong> Baltimore, Md. 2/27/1978."None>Hsu (1978)</a> stated that Chinese males with thyrotoxicosis who have HLA types BW22 and BW17 and do not have BW46 are most susceptible to periodic paralysis. Thus, thyrotoxic periodic paralysis may be due to a genetic peculiarity of muscle membranes.</p><p><a href="#19" class="mim-tip-reference" title="Yeung, R. T. T. <strong>Personal Communication.</strong> Hong Kong 10/9/1981."None>Yeung (1981)</a> stated that multiple cases in families had been observed.</p>
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<p><a href="#8" class="mim-tip-reference" title="Kung, A. W. C., Lau, K. S., Fong, G. C. Y., Chan, V. <strong>Association of novel single nucleotide polymorphisms in the calcium channel alpha-1 subunit gene (Cav1.1) and thyrotoxic periodic paralysis.</strong> J. Clin. Endocr. Metab. 89: 1340-1345, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15001631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15001631</a>] [<a href="https://doi.org/10.1210/jc.2003-030924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15001631">Kung et al. (2004)</a> studied 97 male patients with thyrotoxic periodic paralysis, 77 male patients with Graves disease without thyrotoxic periodic paralysis, and 100 normal male subjects, all Chinese. They detected 12 single-nucleotide polymorphisms (SNPs) in the CACNA1S gene, 3 of which were novel. Significant differences in the SNP genotype distribution between subjects with thyrotoxic periodic paralysis compared with Graves disease controls and normal controls were seen at a 5-prime flanking region SNP (<a href="/entry/114208#0005">114208.0005</a>) and 2 intronic SNPs (<a href="/entry/114208#0006">114208.0006</a>, <a href="/entry/114208#0007">114208.0007</a>). The authors concluded that because these SNPs lie at or near a thyroid hormone-responsive element (TRE), it is possible that they may affect the binding affinity of the TRE and modulate the stimulation of thyroid hormone on the Cav1.1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15001631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Dias Da Silva, M. R., Cerutti, J. M., Arnaldi, L. A. T., Maciel, R. M. B. <strong>A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.</strong> J. Clin. Endocr. Metab. 87: 4881-4884, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414843</a>] [<a href="https://doi.org/10.1210/jc.2002-020698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414843">Dias Da Silva et al. (2002)</a> identified an arg83-to-his (R83H; <a href="/entry/604433#0001">604433.0001</a>) substitution in the KCNE3 gene in 1 of 15 patients with thyrotoxic hypokalemic periodic paralysis. The patient was a 44-year-old Caucasian man of Portuguese descent who experienced episodic paralysis for 2 years before developing thyrotoxicosis caused by Graves disease (<a href="/entry/275000">275000</a>). Two of his 3 offspring, all asymptomatic, were found to have the same mutation. However, <a href="#16" class="mim-tip-reference" title="Sternberg, D., Tabti, N., Fournier, E., Hainque, B., Fontaine, B. <strong>Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.</strong> Neurology 61: 857-859, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14504341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14504341</a>] [<a href="https://doi.org/10.1212/01.wnl.0000082392.66713.e3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14504341">Sternberg et al. (2003)</a> and <a href="#6" class="mim-tip-reference" title="Jurkat-Rott, K., Lehmann-Horn, F. <strong>Periodic paralysis mutation MiRP2-R83H in controls: interpretations and general recommendation.</strong> Neurology 62: 1012-1015, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037716</a>] [<a href="https://doi.org/10.1212/01.wnl.0000119392.29624.88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15037716">Jurkat-Rott and Lehmann-Horn (2004)</a> concluded that the R83H variant does not play a causative role in periodic paralysis and that it is a polymorphism. See <a href="/entry/604433#0001">604433.0001</a> for further discussion. <a href="#17" class="mim-tip-reference" title="Tang, N. L. S., Chow, C. C., Ko, G. T. C., Tai, M. H. L., Kwok, R., Yao, X. Q., Cockram, C. S. <strong>No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients.</strong> Clin. Endocr. 61: 109-112, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15212652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15212652</a>] [<a href="https://doi.org/10.1111/j.1365-2265.2004.02079.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15212652">Tang et al. (2004)</a> did not identify the R83H substitution, or any mutations in the KCNE3 gene, among 79 Chinese patients with thyrotoxic hypokalemic periodic paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12414843+15212652+14504341+15037716" 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 overall incidence of TTPP in Chinese and Japanese thyrotoxic patients had been estimated at 1.8 and 1.9%, respectively. In North America, the incidence is much lower, at about 0.1 to 0.2% in thyrotoxic patients. The male to female ratio ranges from 17:1 to 70:1 (review by <a href="#9" class="mim-tip-reference" title="Kung, A. W. C. <strong>Clinical review: thyrotoxic periodic paralysis: a diagnostic challenge.</strong> J. Clin. Endocr. Metab. 91: 2490-2495, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16608889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16608889</a>] [<a href="https://doi.org/10.1210/jc.2006-0356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16608889">Kung, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16608889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Au1972" class="mim-tip-reference" title="Au, K.-S., Yeung, R. T. T. <strong>Thyrotoxic periodic paralysis: periodic variation in the muscle calcium pump activity.</strong> Arch. Neurol. 26: 543-546, 1972.">Au and Yeung (1972)</a>; <a href="#Kusakabe1976" class="mim-tip-reference" title="Kusakabe, T., Yoshida, M., Nishikawa, M. <strong>Thyrotoxic periodic paralysis: a peculiar case with unusual dystonic behavior and variable relations of paralysis to serum potassium levels.</strong> J. Clin. Endocr. Metab. 43: 730-740, 1976.">Kusakabe et al. (1976)</a>; <a href="#Ramsay1974" class="mim-tip-reference" title="Ramsay, I. D. <strong>Thyrotoxic periodic paralysis. In: Thyroid Disease and Muscle Dysfunction.</strong> Chicago: Year Book Med. Publ. (pub.) 1974. Pp. 96-125.">Ramsay (1974)</a>; <a href="#Yeung1974" class="mim-tip-reference" title="Yeung, R. T. T., Tse, T. F. <strong>Thyrotoxic periodic paralysis: effect of propranolol.</strong> Am. J. Med. 57: 584-590, 1974.">Yeung and
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Tse (1974)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1210/jc.2002-020698" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000119392.29624.88" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1089/thy.1994.4.441" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2003-030924" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2006-0356" target="_blank">Full Text</a>]
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Kusakabe, T., Yoshida, M., Nishikawa, M.
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<strong>Thyrotoxic periodic paralysis: a peculiar case with unusual dystonic behavior and variable relations of paralysis to serum potassium levels.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/977720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">977720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=977720" 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/10.1210/jcem-43-4-730" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.24.10.949" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/014107688507800808" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bmj.1.5538.451" target="_blank">Full Text</a>]
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<a id="Ramsay1974" class="mim-anchor"></a>
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Ramsay, I. D.
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<strong>Thyrotoxic periodic paralysis. In: Thyroid Disease and Muscle Dysfunction.</strong>
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[<a href="https://doi.org/10.1212/01.wnl.0000082392.66713.e3" target="_blank">Full Text</a>]
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Yeung, R. T. T., Tse, T. F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4432863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4432863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4432863" 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/10.1016/0002-9343(74)90010-2" target="_blank">Full Text</a>]
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Yeung, R. T. T.
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<strong>Personal Communication.</strong>
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Hong Kong 10/9/1981.
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/24/2012
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Cassandra L. Kniffin - updated : 2/1/2010<br>Cassandra L. Kniffin - updated : 11/24/2009<br>John A. Phillips, III - updated : 4/4/2005
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 03/28/2018
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carol : 08/03/2016<br>carol : 08/02/2016<br>alopez : 09/26/2012<br>terry : 9/24/2012<br>carol : 2/5/2010<br>ckniffin : 2/1/2010<br>terry : 12/17/2009<br>ckniffin : 11/24/2009<br>carol : 4/17/2009<br>alopez : 4/4/2005<br>alopez : 4/4/2005<br>cwells : 11/10/2003<br>carol : 4/15/2003<br>tkritzer : 4/15/2003<br>mimadm : 5/10/1995<br>mark : 4/3/1995<br>warfield : 4/14/1994<br>pfoster : 4/5/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
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<strong>ORPHA:</strong> 79102;
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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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1q32.1
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{Thyrotoxic periodic paralysis, susceptibility to, 1}
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188580
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Autosomal dominant
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3
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CACNA1S
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114208
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to thyrotoxic periodic paralysis-1 (TTPP1) is conferred by variation in the CACNA1S gene on chromosome 1q32.</p>
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<strong>Description</strong>
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<p>Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). </p><p><strong><em>Genetic Heterogeneity of Thyrotoxic Periodic Paralysis</em></strong></p><p>
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See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.</p>
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<strong>Clinical Features</strong>
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<p>Among 1,366 consecutive Southern Chinese patients with thyrotoxicosis, McFadzean and Yeung (1967) found that 25 had a history of 1 or more attacks of periodic paralysis, and that 23 of the 25 were male. </p><p>Bernard et al. (1972) reported thyrotoxic periodic paralysis in 5 unrelated Californian males of Japanese, Mexican, and Filipino descent. The patients ranged in age from 18 to 36 years. All presented with a chief complaint of periodic muscle weakness and paralysis in the lower limbs, often occurring at night or in the morning or after a large meal. All were subsequently found to have variable clinical features of hyperthyroidism, including palpitations, hypertension, increased heart rate, nervousness, sweating, and weight loss. However, some of the patients had very mild features of hyperthyroidism. When measured, serum potassium was very low during the episodes. All patients had complete recovery after proper treatment for hyperthyroidism, and most had no significant family history. Bernard et al. (1972) noted that some patients may have subtle or even absent clinical signs of hyperthyroidism, which should be evaluated by laboratory studies. </p><p>Layzer and Goldfield (1974) observed periodic paralysis in a Japanese-American male who 'abused' thyroid hormone. </p><p>Ali (1975) reported a 30-year-old man of Scottish descent who presented with weight loss, palpitations, sweating, and heat intolerance over 18 months. He also reported episodic attacks of weakness in the legs that usually occurred after awakening, but could come at any time. He had no weakness between attacks. There was no relevant family history. Physical examination showed thyrotoxicosis, with exophthalmos, an enlarged thyroid gland, and hyperreflexia. During an attack, serum potassium was severely depleted and he had complete flaccid paralysis from the waist down associated with absent reflexes. Proper treatment of the hyperthyroidism resulted in complete clinical recovery with no further episodes of paralysis. </p><p>Leung (1985) observed thyrotoxicosis and periodic paralysis in 4 adult members of a Chinese family: a mother and 3 children, including 2 males and 1 female. Two had Graves disease (275000) and Hashimoto thyroiditis (140300) as evidenced by the presence of thyroid antibodies and elevated thyroxine levels. The other 2 were not available for study. </p><p>Kilpatrick et al. (1994) found 6 reports of thyrotoxic hypokalemic periodic paralysis in African Americans and described 4 additional cases, all in males. They concluded that the disorder may be more frequent in blacks than previously suspected and should be considered when patients present with unexplained hypokalemia, muscular weakness, and rhabdomyolysis. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>A specific genetic basis for TTPP is suggested by the fact that although occasional cases occur in Caucasians (e.g., Ali, 1975; Shah et al., 1979), the disorder is seen predominantly in Asians. </p><p>Hsu (1978) stated that Chinese males with thyrotoxicosis who have HLA types BW22 and BW17 and do not have BW46 are most susceptible to periodic paralysis. Thus, thyrotoxic periodic paralysis may be due to a genetic peculiarity of muscle membranes.</p><p>Yeung (1981) stated that multiple cases in families had been observed.</p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Kung et al. (2004) studied 97 male patients with thyrotoxic periodic paralysis, 77 male patients with Graves disease without thyrotoxic periodic paralysis, and 100 normal male subjects, all Chinese. They detected 12 single-nucleotide polymorphisms (SNPs) in the CACNA1S gene, 3 of which were novel. Significant differences in the SNP genotype distribution between subjects with thyrotoxic periodic paralysis compared with Graves disease controls and normal controls were seen at a 5-prime flanking region SNP (114208.0005) and 2 intronic SNPs (114208.0006, 114208.0007). The authors concluded that because these SNPs lie at or near a thyroid hormone-responsive element (TRE), it is possible that they may affect the binding affinity of the TRE and modulate the stimulation of thyroid hormone on the Cav1.1 gene. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Dias Da Silva et al. (2002) identified an arg83-to-his (R83H; 604433.0001) substitution in the KCNE3 gene in 1 of 15 patients with thyrotoxic hypokalemic periodic paralysis. The patient was a 44-year-old Caucasian man of Portuguese descent who experienced episodic paralysis for 2 years before developing thyrotoxicosis caused by Graves disease (275000). Two of his 3 offspring, all asymptomatic, were found to have the same mutation. However, Sternberg et al. (2003) and Jurkat-Rott and Lehmann-Horn (2004) concluded that the R83H variant does not play a causative role in periodic paralysis and that it is a polymorphism. See 604433.0001 for further discussion. Tang et al. (2004) did not identify the R83H substitution, or any mutations in the KCNE3 gene, among 79 Chinese patients with thyrotoxic hypokalemic periodic paralysis. </p>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>The overall incidence of TTPP in Chinese and Japanese thyrotoxic patients had been estimated at 1.8 and 1.9%, respectively. In North America, the incidence is much lower, at about 0.1 to 0.2% in thyrotoxic patients. The male to female ratio ranges from 17:1 to 70:1 (review by Kung, 2006). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Au and Yeung (1972); Kusakabe et al. (1976); Ramsay (1974); Yeung and
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Tse (1974)
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</span>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ali, K.
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<strong>Hypokalaemic periodic paralysis complicating thyrotoxicosis.</strong>
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Brit. Med. J. 4: 503-504, 1975.
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[PubMed: 1192145]
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[Full Text: https://doi.org/10.1136/bmj.4.5995.503-a]
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<p class="mim-text-font">
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Au, K.-S., Yeung, R. T. T.
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<strong>Thyrotoxic periodic paralysis: periodic variation in the muscle calcium pump activity.</strong>
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Arch. Neurol. 26: 543-546, 1972.
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[PubMed: 4260573]
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[Full Text: https://doi.org/10.1001/archneur.1972.00490120083009]
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<p class="mim-text-font">
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Bernard, J. D., Larson, M. A., Norris, F. H., Jr.
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<strong>Thyrotoxic periodic paralysis in Californians of Mexican and Filipino ancestry.</strong>
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Calif. Med. 116: 70-74, 1972.
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[PubMed: 5059669]
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<p class="mim-text-font">
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Dias Da Silva, M. R., Cerutti, J. M., Arnaldi, L. A. T., Maciel, R. M. B.
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<strong>A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.</strong>
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J. Clin. Endocr. Metab. 87: 4881-4884, 2002.
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[PubMed: 12414843]
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[Full Text: https://doi.org/10.1210/jc.2002-020698]
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<li>
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<p class="mim-text-font">
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Hsu, T. H.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/27/1978.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jurkat-Rott, K., Lehmann-Horn, F.
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<strong>Periodic paralysis mutation MiRP2-R83H in controls: interpretations and general recommendation.</strong>
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Neurology 62: 1012-1015, 2004.
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[PubMed: 15037716]
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[Full Text: https://doi.org/10.1212/01.wnl.0000119392.29624.88]
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<p class="mim-text-font">
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Kilpatrick, R. E., Seiler-Smith, S., Levine, S. N.
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<strong>Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males.</strong>
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[PubMed: 7711509]
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Kung, A. W. C., Lau, K. S., Fong, G. C. Y., Chan, V.
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<strong>Association of novel single nucleotide polymorphisms in the calcium channel alpha-1 subunit gene (Cav1.1) and thyrotoxic periodic paralysis.</strong>
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<p class="mim-text-font">
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Kung, A. W. C.
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<strong>Clinical review: thyrotoxic periodic paralysis: a diagnostic challenge.</strong>
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J. Clin. Endocr. Metab. 91: 2490-2495, 2006.
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<p class="mim-text-font">
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Kusakabe, T., Yoshida, M., Nishikawa, M.
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<strong>Thyrotoxic periodic paralysis: a peculiar case with unusual dystonic behavior and variable relations of paralysis to serum potassium levels.</strong>
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J. Clin. Endocr. Metab. 43: 730-740, 1976.
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[PubMed: 977720]
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[Full Text: https://doi.org/10.1210/jcem-43-4-730]
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Layzer, R. B., Goldfield, E.
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<strong>Periodic paralysis caused by abuse of thyroid hormone.</strong>
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Neurology 24: 949-952, 1974.
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[PubMed: 4472229]
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[Full Text: https://doi.org/10.1212/wnl.24.10.949]
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<p class="mim-text-font">
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Leung, A. K. C.
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<strong>Familial 'hashitoxic' periodic paralysis.</strong>
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J. Roy. Soc. Med. 78: 638-640, 1985.
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[PubMed: 3839536]
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<p class="mim-text-font">
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McFadzean, A. J. S., Yeung, R.
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<strong>Periodic paralysis complicating thyrotoxicosis in Chinese.</strong>
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Brit. Med. J. 1: 451-455, 1967.
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[Full Text: https://doi.org/10.1136/bmj.1.5538.451]
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<p class="mim-text-font">
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Ramsay, I. D.
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<strong>Thyrotoxic periodic paralysis. In: Thyroid Disease and Muscle Dysfunction.</strong>
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Chicago: Year Book Med. Publ. (pub.) 1974. Pp. 96-125.
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Shah, N., Kussman, M. J., Tulgan, H.
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<strong>Familial periodic paralysis and hyperthyroidism.</strong>
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New York J. Med. 79: 1770-1771, 1979.
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[PubMed: 290877]
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Sternberg, D., Tabti, N., Fournier, E., Hainque, B., Fontaine, B.
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<strong>Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.</strong>
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Neurology 61: 857-859, 2003.
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[PubMed: 14504341]
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Tang, N. L. S., Chow, C. C., Ko, G. T. C., Tai, M. H. L., Kwok, R., Yao, X. Q., Cockram, C. S.
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<strong>No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients.</strong>
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Clin. Endocr. 61: 109-112, 2004.
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[PubMed: 15212652]
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[Full Text: https://doi.org/10.1111/j.1365-2265.2004.02079.x]
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<li>
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<p class="mim-text-font">
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Yeung, R. T. T., Tse, T. F.
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<strong>Thyrotoxic periodic paralysis: effect of propranolol.</strong>
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Am. J. Med. 57: 584-590, 1974.
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[PubMed: 4432863]
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[Full Text: https://doi.org/10.1016/0002-9343(74)90010-2]
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Yeung, R. T. T.
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<strong>Personal Communication.</strong>
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Hong Kong 10/9/1981.
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