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Entry
- #212750 - CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
- OMIM
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<span class="h4">#212750</span>
<br />
<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/212750"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS212750"> <strong>Phenotypic Series</strong> </a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CELIAC DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:212750" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
212750
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CELIAC SPRUE, SUSCEPTIBILITY TO, 1<br />
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/368?start=-3&limit=10&highlight=368">
6p21.32
</a>
</span>
</td>
<td>
<span class="mim-font">
{Celiac disease, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
HLA-DQA1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146880"> 146880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/369?start=-3&limit=10&highlight=369">
6p21.32
</a>
</span>
</td>
<td>
<span class="mim-font">
{Celiac disease, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
HLA-DQB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> 604305 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/212750" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS212750" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/212750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/212750" 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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
Multifactorial <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837655</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Weight loss <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540682</a>, <a href="https://bioportal.bioontology.org/search?q=C5203233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5203233</a>, <a href="https://bioportal.bioontology.org/search?q=C1262477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1262477</a> 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> <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>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Growth retardation (children) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673834</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent aphthous stomatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722781002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722781002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398870000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398870000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K12.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937365&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937365</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011107</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypoplastic dental enamel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673842</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abdominal distention (children) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673835</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Recurrent abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/439469002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">439469002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2585575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2585575</a>]</span><br /> -
Watery diarrhea (children and adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673836</a>]</span><br /> -
Steatorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27868004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27868004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66187002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66187002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038238</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002570</a>]</span><br /> -
Small intestine inflammation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64613007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64613007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K52.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K52.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014335&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014335</a>]</span><br /> -
Flattened villi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673838</a>]</span><br /> -
Hyperplastic crypts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673839</a>]</span><br /> -
Increased intraepithelial lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673840</a>]</span><br /> -
Infiltration of lamina propria with plasma cells and lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673841</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis (70% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Arthralgia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dermatitis herpetiformis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111196000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111196000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L13.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/694.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">694.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011608</a>]</span><br /> -
Follicular keratosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48611009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48611009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5132005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5132005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238625005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238625005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022595</a>, <a href="https://bioportal.bioontology.org/search?q=C0549151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549151</a>, <a href="https://bioportal.bioontology.org/search?q=C0263383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032152</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032152</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br />
</span>
</div>
</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">
- Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Cerebral calcification <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17944005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17944005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002514</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0430048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0430048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002514</a>]</span><br /> -
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</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">
- Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Infertility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8619003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8619003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15296000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15296000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4074771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4074771</a>, <a href="https://bioportal.bioontology.org/search?q=C0021359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021359</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000789</a>]</span><br /> -
Delayed puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400003000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400003000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123526007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123526007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br /> -
Type 1 diabetes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46635009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46635009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011854</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100651</a>]</span><br /> -
Autoimmune thyroiditis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21983002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21983002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E06.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E06.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/245.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">245.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0677607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0677607</a>, <a href="https://bioportal.bioontology.org/search?q=C0920350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0920350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000872</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Iron deficiency anemia (adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673848</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87522002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87522002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/280.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span><br /> -
Macrocytic anemia (folate or rarely B12 deficiency) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83414005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83414005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002886</a>, <a href="https://bioportal.bioontology.org/search?q=C1420653&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1420653</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001972</a>]</span><br /> -
Thrombocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6631009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6631009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.839</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D75.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D75.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0836924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0836924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001894" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001894</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- IgA deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29260007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29260007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002720" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002720</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002720" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002720</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Intestinal T-cell lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277654008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277654008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103686008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103686008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1222550009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1222550009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C86.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C86.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C86.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C86.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456889</a>, <a href="https://bioportal.bioontology.org/search?q=C4721452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721452</a>]</span><br /> -
Small bowel cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363509000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363509000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C17</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C17.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C17.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/152.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">152.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238196</a>, <a href="https://bioportal.bioontology.org/search?q=C0153425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0153425</a>]</span><br /> -
Pharyngeal cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363507003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363507003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C14.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C14.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/149.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">149.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747548</a>, <a href="https://bioportal.bioontology.org/search?q=C0153405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0153405</a>]</span><br /> -
Esophageal cancer <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363402007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363402007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/126817006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">126817006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/372138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">372138000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C15</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C15.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C15.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/150.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">150.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">150</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546837</a>, <a href="https://bioportal.bioontology.org/search?q=C0014859&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014859</a>, <a href="https://bioportal.bioontology.org/search?q=C0152018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152018</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0011459" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011459</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- IigA and IgG antigliadin antibodies (AGA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673844</a>]</span><br /> -
IgA antiendomysial antibodies (EMA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673845</a>]</span><br /> -
Anti-tissue transglutaminase antibodies (anti-tTG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673846</a>]</span><br /> -
Vitamin B12 deficiency (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190634004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190634004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E53.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E53.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042847</a>, <a href="https://bioportal.bioontology.org/search?q=C5886863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5886863</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100502</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100502</a>]</span><br /> -
Iron deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35240004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35240004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87522002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87522002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E61.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E61.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/280.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">280.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162316</a>, <a href="https://bioportal.bioontology.org/search?q=C0240066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001891</a>]</span><br /> -
Folate deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190633005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190633005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E53.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E53.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100507" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100507</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100507" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100507</a>]</span><br /> -
Hypocalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5291005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020598</a>, <a href="https://bioportal.bioontology.org/search?q=C3665624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span><br /> -
Vitamin K deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52675005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52675005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E56.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E56.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/269.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">269.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042880</a>]</span><br /> -
Vitamin D deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34713006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34713006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E55.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E55.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">268</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/268.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">268.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5886864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5886864</a>, <a href="https://bioportal.bioontology.org/search?q=C0042870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100512</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100512" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100512</a>]</span><br /> -
Prolonged prothrombin time <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409674002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409674002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313341008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313341008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151872</a>, <a href="https://bioportal.bioontology.org/search?q=C0853225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008151</a>]</span><br /> -
Elevated liver transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 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 /> -
Precipitating factors - ingestion of wheat gluten, rye, and/or barley<br /> -
Presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting<br /> -
Presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia<br /> -
Presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin D deficiency<br />
</span>
</div>
</div>
</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<h5>
Celiac disease
- <a href="/phenotypicSeries/PS212750">PS212750</a>
- 15 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/1/1504?start=-3&limit=10&highlight=1504"> 1q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> {Celiac disease, susceptibility to, 7} </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/612005"> 612005 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> CELIAC7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612005"> 612005 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/460?start=-3&limit=10&highlight=460"> 2q11-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> {Celiac disease, susceptibility to, 8} </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/612006"> 612006 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> CELIAC8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612006"> 612006 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/934?start=-3&limit=10&highlight=934"> 2q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609755"> {Celiac disease, susceptibility to, 3} </a>
</span>
</td>
<td>
<span class="mim-font">
</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/609755"> 609755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123890"> CTLA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123890"> 123890 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/217?start=-3&limit=10&highlight=217"> 3p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> {Celiac disease, susceptibility to, 9} </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/612007"> 612007 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> CELIAC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612007"> 612007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/769?start=-3&limit=10&highlight=769"> 3q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> {Celiac disease, susceptibility to, 10} </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/612008"> 612008 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> CELIAC10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612008"> 612008 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/954?start=-3&limit=10&highlight=954"> 3q28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> {Celiac disease, susceptibility to, 11} </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/612009"> 612009 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> CELIAC11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612009"> 612009 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/519?start=-3&limit=10&highlight=519"> 4q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> {Autoimmune disease, susceptibility to, 5} </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/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> CELIAC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/519?start=-3&limit=10&highlight=519"> 4q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> {Celiac disease, susceptibility to, 6} </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/611598"> 611598 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> CELIAC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611598"> 611598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/423?start=-3&limit=10&highlight=423"> 5q31-q33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> {Celiac disease, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> 609754 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> CELIAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609754"> 609754 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/368?start=-3&limit=10&highlight=368"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146880"> HLA-DQA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146880"> 146880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/369?start=-3&limit=10&highlight=369"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212750"> {Celiac disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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/212750"> 212750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> HLA-DQB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> 604305 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/974?start=-3&limit=10&highlight=974"> 6q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> {Celiac disease, susceptibility to, 12} </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/612010"> 612010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> CELIAC12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612010"> 612010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/772?start=-3&limit=10&highlight=772"> 12q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612011"> {Celiac disease, susceptibility to, 13} </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/612011"> 612011 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612011"> CELIAC13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612011"> 612011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/2?start=-3&limit=10&highlight=2"> 15q11-q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607202"> {Celiac disease, susceptibility to, 5} </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/607202"> 607202 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607202"> CELIAC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607202"> 607202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/316?start=-3&limit=10&highlight=316"> 19p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609753"> {Celiac disease, susceptibility to, 4} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Multifactorial">Mu</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/609753"> 609753 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609753"> CELIAC4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609753"> 609753 </a>
</span>
</td>
</tr>
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<p>A number sign (#) is used with this entry because susceptibility to celiac disease-1 (CELIAC1) has been found to be genetically determined by possession of specific HLA-DQ alleles (see <a href="/entry/146880">146880</a> and <a href="/entry/604305">604305</a>) on chromosome 6p21.3; this region has been designated CELIAC1.</p>
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<strong>Description</strong>
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<p>Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by <a href="#19" class="mim-tip-reference" title="Farrell, R. J., Kelly, C. P. &lt;strong&gt;Celiac sprue.&lt;/strong&gt; New Eng. J. Med. 346: 180-188, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11796853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11796853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra010852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11796853">Farrell and Kelly, 2002</a>). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (<a href="#56" class="mim-tip-reference" title="Monsuur, A. J., de Bakker, P. I. W., Alizadeh, B. Z., Zhernakova, A., Bevova, M. R., Strengman, E., Franke, L., van&#x27;t Slot, R., van Belzen, M. J., Lavrijsen, I. C. M., Diosdado, B., Daly, M. J., Mulder, C. J. J., Mearin, M. L., Meijer, J. W. R., Meijer, G. A., van Oort, E., Wapenaar, M. C., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.&lt;/strong&gt; Nature Genet. 37: 1341-1344, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282976/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1680&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282976">Monsuur et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16282976+11796853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of celiac disease, see MAPPING.</p>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Clinical Features</strong>
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<p>In individuals with celiac disease, ingestion of gluten leads to inflammation and tissue remodeling of the intestinal mucosa, resulting in malnutrition and severe complications (summary by <a href="#56" class="mim-tip-reference" title="Monsuur, A. J., de Bakker, P. I. W., Alizadeh, B. Z., Zhernakova, A., Bevova, M. R., Strengman, E., Franke, L., van&#x27;t Slot, R., van Belzen, M. J., Lavrijsen, I. C. M., Diosdado, B., Daly, M. J., Mulder, C. J. J., Mearin, M. L., Meijer, J. W. R., Meijer, G. A., van Oort, E., Wapenaar, M. C., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.&lt;/strong&gt; Nature Genet. 37: 1341-1344, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282976/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1680&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282976">Monsuur et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16282976" 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>Because of anecdotal accounts of an association between celiac disease and epilepsy with cerebral calcifications that resembled those of Sturge-Weber syndrome (<a href="/entry/185300">185300</a>), <a href="#25" class="mim-tip-reference" title="Gobbi, G., Bouquet, F., Greco, L., Lambertini, A., Tassinari, C. A., Ventura, A., Zaniboni, M. G. &lt;strong&gt;Coeliac disease, epilepsy, and cerebral calcifications.&lt;/strong&gt; Lancet 340: 439-443, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1354781/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1354781&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)91766-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1354781">Gobbi et al. (1992)</a> studied 43 patients: 31 patients with cerebral calcifications of unexplained origin and epilepsy underwent intestinal biopsy, and 12 patients with celiac disease and epilepsy underwent computed tomography. Of the first series, 24 were identified as having CD on the basis of flat intestinal mucosa; 15 of 22 had a high concentration of serum antigluten. Of the 12 patients in the second series, 5 showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of the 29, calcifications were located in the parietooccipital regions. Only 2 patients of the first series had gastrointestinal symptoms at the time of intestinal biopsy; however, most patients had recurrent diarrhea, anemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of 'atypical Sturge-Weber syndrome' (characterized by serpiginous cerebral calcifications and epilepsy without facial port-wine nevus) should be reviewed for possible celiac disease, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1354781" 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="#50" class="mim-tip-reference" title="Maki, M., Collin, P. &lt;strong&gt;Coeliac disease.&lt;/strong&gt; Lancet 349: 1755-1759, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9193393/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9193393&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0140-6736(96)70237-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9193393">Maki and Collin (1997)</a> noted that in some cases of celiac disease, extraintestinal symptoms such as dermatitis herpetiformis (DH; <a href="/entry/601230">601230</a>) and neurologic symptoms are also present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9193393" 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="#20" class="mim-tip-reference" title="Fasano, A. &lt;strong&gt;Celiac disease--how to handle a clinical chameleon. (Editorial)&lt;/strong&gt; New Eng. J. Med. 348: 2568-2570, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12815143/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12815143&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMe030050&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12815143">Fasano (2003)</a> listed the atypical clinical manifestations of celiac disease, which include osteoporosis, chronic fatigue, irritable bowel, and miscarriage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815143" 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>Reviews</em></strong></p><p>
<a href="#19" class="mim-tip-reference" title="Farrell, R. J., Kelly, C. P. &lt;strong&gt;Celiac sprue.&lt;/strong&gt; New Eng. J. Med. 346: 180-188, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11796853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11796853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra010852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11796853">Farrell and Kelly (2002)</a> reviewed all aspects of celiac sprue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11796853" 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>Of 30 asymptomatic children with a genetic risk for celiac disease and positive transglutaminase antibodies studied by <a href="#33" class="mim-tip-reference" title="Hoffenberg, E. J., Bao, F., Eisenbarth, G. S., Uhlhorn, C., Haas, J. E., Sokol, R. J., Rewers, M. &lt;strong&gt;Transglutaminase antibodies in children with a genetic risk for celiac disease.&lt;/strong&gt; J. Pediat. 137: 356-360, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10969260/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10969260&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2000.107582&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10969260">Hoffenberg et al. (2000)</a>, 21 had definite and 4 possible small bowel biopsy evidence for celiac disease, yielding a positive predictive value of 70 to 83% by antibody detection. <a href="#51" class="mim-tip-reference" title="Maki, M., Mustalahti, K., Kokkonen, J., Kulmala, P., Haapalahti, M., Karttunen, T., Ilonen, J., Laurila, K., Dahlbom, I., Hansson, T., Hopfl, P., Knip, M. &lt;strong&gt;Prevalence of celiac disease among children in Finland.&lt;/strong&gt; New Eng. J. Med. 348: 2517-2524, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12815137/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12815137&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa021687&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12815137">Maki et al. (2003)</a> screened serum samples from 3,654 Finnish students, aged 7 to 16 years, and screened them for endomysial and tissue transglutaminase antibodies. In 56 (1.5%) the antibody tests were found to be positive, despite the fact that none of the subjects had received a clinical diagnosis of celiac disease (although 10 who had positive tests for both antibodies and serum in early stages of the study later received a diagnosis of celiac disease). In 27 of 36 subjects with positive antibody assays who agreed to have intestinal biopsy, 27 had evidence of celiac disease. Thus, the estimated biopsy-proved prevalence was 1 case in 99 children. All but 2 of the antibody-positive subjects had either the HLA-DQ2 or the HLA-DQ8 haplotype. The prevalence of the combination of antibody positivity and an HLA haplotype associated with celiac disease was 1 in 67. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12815137+10969260" 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="#20" class="mim-tip-reference" title="Fasano, A. &lt;strong&gt;Celiac disease--how to handle a clinical chameleon. (Editorial)&lt;/strong&gt; New Eng. J. Med. 348: 2568-2570, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12815143/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12815143&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMe030050&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12815143">Fasano (2003)</a> urged increased awareness of the celiac disease on the part of health care professionals, especially primary care physicians, because of the high rate of morbidity related to untreated celiac disease and the typical delay in diagnosis. He also urged a low threshold for the use of serologic tests as pivotal both to alleviate the social and personal costs of the disease and to increase the quality of life for the many persons affected by celiac disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Population Genetics</strong>
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<p><a href="#79" class="mim-tip-reference" title="Trier, J. S. &lt;strong&gt;Celiac sprue.&lt;/strong&gt; New Eng. J. Med. 325: 1709-1719, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1944472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1944472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199112123252406&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1944472">Trier (1991)</a> pointed to prevalence rates of celiac disease ranging from 1:300 in western Ireland (<a href="#57" class="mim-tip-reference" title="Mylotte, M., Egan-Mitchell, B., McCarthy, C. F., McNicholl, B. &lt;strong&gt;Incidence of coeliac disease in the west of Ireland.&lt;/strong&gt; Brit. Med. J. 1: 703-705, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4694691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4694691&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bmj.1.5855.703&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4694691">Mylotte et al., 1973</a>) to between 1:1,000 and 1:2,000 in other regions of Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1944472+4694691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the United States, the disease is exceedingly rare when the criteria for diagnosis rely on classic symptoms such as diarrhea and short stature (<a href="#67" class="mim-tip-reference" title="Rossi, T. M., Albini, C. H., Kumar, V. &lt;strong&gt;Incidence of celiac disease identified by the presence of serum endomysial antibodies in children with chronic diarrhea, short stature, or insulin-dependent diabetes mellitus.&lt;/strong&gt; J. Pediat. 123: 262-264, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8345423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8345423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)81699-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8345423">Rossi et al., 1993</a>), but by broadening the clinical indication <a href="#32" class="mim-tip-reference" title="Hill, I., Fasano, A., Schwartz, R., Counts, D., Glock, M., Horvath, K. &lt;strong&gt;The prevalence of celiac disease in at-risk groups of children in the United States.&lt;/strong&gt; J. Pediat. 136: 86-90, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10636980/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10636980&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(00)90055-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10636980">Hill et al. (2000)</a> found that antibody screening indicated a higher prevalence, similar to that in Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8345423+10636980" 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>Greater awareness of the presentation of celiac disease and the availability of accurate serologic tests led to the realization that the disorder is relatively common, affecting 1 of every 120 to 300 persons in both Europe (<a href="#41" class="mim-tip-reference" title="Johnston, S. D., Watson, R. G. P., McMillan, S. A., Sloan, J., Love, A. H. G. &lt;strong&gt;Coeliac disease detected by screening is not silent--simply unrecognized.&lt;/strong&gt; Quart. J. Med. 91: 853-860, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10024951/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10024951&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/qjmed/91.12.853&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10024951">Johnston et al., 1998</a>; <a href="#12" class="mim-tip-reference" title="Catassi, C., Fabiani, E., Ratsch, I. M., Coppa, G. V., Giorgi, P. L., Pierdomenico, R., Alessandrini, S., Iwanejko, G., Domenici, R., Mei, E., Miano, A., Marani, M., and 23 others. &lt;strong&gt;The coeliac iceberg in Italy: a multicentre antigliadin antibodies screening for coeliac disease in school-age subjects.&lt;/strong&gt; Acta Paediat. Suppl. 412: 29-35, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8783752/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8783752&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1996.tb14244.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8783752">Catassi et al., 1996</a>) and North America (<a href="#61" class="mim-tip-reference" title="Not, T., Horvath, K., Hill, I. D., Partanen, J., Hammed, A., Magazzu, G., Fasano, A. &lt;strong&gt;Celiac disease risk in the USA: high prevalence of antiendomysium antibodies in healthy blood donors.&lt;/strong&gt; Scand. J. Gastroent. 33: 494-498, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9648988/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9648988&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/00365529850172052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9648988">Not et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10024951+9648988+8783752" 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="#51" class="mim-tip-reference" title="Maki, M., Mustalahti, K., Kokkonen, J., Kulmala, P., Haapalahti, M., Karttunen, T., Ilonen, J., Laurila, K., Dahlbom, I., Hansson, T., Hopfl, P., Knip, M. &lt;strong&gt;Prevalence of celiac disease among children in Finland.&lt;/strong&gt; New Eng. J. Med. 348: 2517-2524, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12815137/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12815137&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa021687&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12815137">Maki et al. (2003)</a> estimated that the prevalence of celiac disease among Finnish schoolchildren is at least 1 case in 99 children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815137" 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>With a prevalence close to 1% (<a href="#17" class="mim-tip-reference" title="Dube, C., Rostom, A., Sy, R., Cranney, A., Saloojee, N., Garritty, C., Sampson, M., Zhang, L., Yazdi, F., Mamaladze, V., Pan, I., Macneil, J., Mack, D., Patel, D., Moher, D. &lt;strong&gt;The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review.&lt;/strong&gt; Gastroenterology 128: S57-S67, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15825128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15825128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1053/j.gastro.2005.02.014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15825128">Dube et al., 2005</a>), celiac disease is the most common food intolerance in general Western populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15825128" 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="#85" class="mim-tip-reference" title="Zhernakova, A., Elbers, C. C., Ferwerda, B., Romanos, J., Tryunka, G., Dubois, P. C., de Kovel, C. G. F., Francke, L., Oosting, M., Barisani, D., Bardella, M. T., Finnish Celiac Disease Study Group, Joosten, L. A. B., Saavalainen, P., van Heel, D. A., Catassi, C., Netea,, M. G., Wijmenga, C. &lt;strong&gt;Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.&lt;/strong&gt; Am. J. Hum. Genet. 86: 970-977, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20560212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20560212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2010.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20560212">Zhernakova et al. (2010)</a> assessed signatures of natural selection for 10 confirmed celiac disease loci in several genomewide datasets comprising 8,154 controls from 4 European (British, Dutch, Italian and Finnish) populations and 195 individuals from a North African (Saharawi) population. They found consistent signs of positive selection for celiac disease-associated alleles at 3 loci, with the strongest signatures of selection observed for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17810546;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17810546</a> from the IL12A locus (CELIAC10; <a href="/entry/612008">612008</a>). Consistent signs of positive selection were also seen for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> at SH2B3 (CELIAC13; <a href="/entry/612011">612011</a>) in the European populations, and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs917997;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs917997</a> from the IL18RAP locus (CELIAC8; <a href="/entry/612006">612006</a>) showed a borderline-significant signature for the European and North African populations. Functional investigation of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide showed that carriers of the SH2B3 <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3184504;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3184504</a> risk allele showed stronger activation of the NOD2 recognition pathway, suggesting that SH2B3 plays a role in protection against bacterial infection and providing a possible explanation for the selective sweep. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20560212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By serum antiendomysial antibody (AEA) analysis and histologic confirmation, <a href="#13" class="mim-tip-reference" title="Catassi, C., Ratsch, I.-M., Gandolfi, L., Pratesi, R., Fabiani, E., El Asmar, R., Frijia, M., Bearzi, I., Vizzoni, L. &lt;strong&gt;Why is coeliac disease enteric in the people of the Sahara?&lt;/strong&gt; Lancet 354: 647-648, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10466670/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10466670&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(99)02609-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10466670">Catassi et al. (1999)</a> determined that CD prevalence in a Saharawi population living in Algeria was 5.6%, more than 5 times that in any European population. <a href="#13" class="mim-tip-reference" title="Catassi, C., Ratsch, I.-M., Gandolfi, L., Pratesi, R., Fabiani, E., El Asmar, R., Frijia, M., Bearzi, I., Vizzoni, L. &lt;strong&gt;Why is coeliac disease enteric in the people of the Sahara?&lt;/strong&gt; Lancet 354: 647-648, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10466670/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10466670&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(99)02609-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10466670">Catassi et al. (1999)</a> speculated that celiac enteropathy may confer protection from intestinal infections/parasites in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10466670" 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 id="pathogenesis" class="mim-anchor"></a>
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<p><a href="#18" class="mim-tip-reference" title="Falchuk, Z. M., Rogentine, G. N., Strober, W. &lt;strong&gt;Predominance of histocompatibility antigen HL-A 8 in patients with gluten-sensitive enteropathy.&lt;/strong&gt; J. Clin. Invest. 51: 1602-1605, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5024049/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5024049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI106958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5024049">Falchuk et al. (1972)</a> found that a particular HLA type (A8) showed an abnormally high frequency in patients with this disorder. They interpreted this as indicating the presence of an abnormal 'immune response gene,' leading to the production of pathogenic antigluten antibody, or, alternatively, a particular membrane configuration leading to binding of gluten to mucosal cells with subsequent tissue damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5024049" 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="#79" class="mim-tip-reference" title="Trier, J. S. &lt;strong&gt;Celiac sprue.&lt;/strong&gt; New Eng. J. Med. 325: 1709-1719, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1944472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1944472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199112123252406&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1944472">Trier (1991)</a> reviewed all aspects of celiac sprue, including genetic factors. Concordance for celiac sprue in identical twins approximates 70% as compared with 30% concordance in HLA-identical sibs. The disease had been found to be associated with HLA-DR3 and HLA-DQw2 in all populations tested. The proportion of gamma-delta TCR (T cell receptor)-bearing intraepithelial lymphocytes is increased in the jejunum of patients with active celiac disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1944472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By studying healthy first-degree relatives of celiac patients, <a href="#34" class="mim-tip-reference" title="Holm, K., Maki, M., Savilahti, E., Lipsanen, V., Laippala, P., Koskimies, S. &lt;strong&gt;Intraepithelial gamma-delta T-cell-receptor lymphocytes and genetic susceptibility to coeliac disease.&lt;/strong&gt; Lancet 339: 1500-1503, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1351185/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1351185&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)91262-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1351185">Holm et al. (1992)</a> found that 45 of 109 (41%) had an increased density of gamma-delta T cells in their mucosa and 66% had an increased density of alpha-beta T cells. By contrast with alpha-beta T cells, the density of gamma-delta cells was significantly associated with genetic markers for celiac disease susceptibility: DR3, DQA (<a href="/entry/146880">146880</a>), and DQB (<a href="/entry/604305">604305</a>). They also found a dosage effect of DQA and DQB genes on the number of intraepithelial gamma-delta T cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1351185" 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>IgA antibodies to endomysium, a structure of the smooth muscle connective tissue, are particularly specific indicators of celiac disease, suggesting that this structure contains one or more target autoantigens that play a role in the pathogenesis of the disease. <a href="#16" class="mim-tip-reference" title="Dieterich, W., Ehnis, T., Bauer, M., Donner, P., Volta, U., Riecken, E. O., Schuppan, D. &lt;strong&gt;Identification of tissue transglutaminase as the autoantigen of celiac disease.&lt;/strong&gt; Nature Med. 3: 797-801, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9212111/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9212111&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm0797-797&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9212111">Dieterich et al. (1997)</a> identified tissue transglutaminase (TGM2; <a href="/entry/190196">190196</a>) as the endomysial autoantigen involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212111" 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="#42" class="mim-tip-reference" title="Karell, K., Korponay-Szabo, I., Szalai, Z., Holopainen, P., Mustalahti, K., Collin, P., Maki, M., Partanen, J. &lt;strong&gt;Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs.&lt;/strong&gt; Ann. Hum. Genet. 66: 387-392, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12485471/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12485471&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/S0003480002001288&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12485471">Karell et al. (2002)</a> evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and dermatitis herpetiformis (<a href="/entry/601230">601230</a>) occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian dermatitis herpetiformis and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. <a href="#42" class="mim-tip-reference" title="Karell, K., Korponay-Szabo, I., Szalai, Z., Holopainen, P., Mustalahti, K., Collin, P., Maki, M., Partanen, J. &lt;strong&gt;Genetic dissection between coeliac disease and dermatitis herpetiformis in sib pairs.&lt;/strong&gt; Ann. Hum. Genet. 66: 387-392, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12485471/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12485471&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/S0003480002001288&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12485471">Karell et al. (2002)</a> concluded that the non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485471" 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="#53" class="mim-tip-reference" title="McManus, R., Kelleher, D. &lt;strong&gt;Celiac disease--the villain unmasked?&lt;/strong&gt; New Eng. J. Med. 348: 2573-2574, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12815145/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12815145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMcibr035033&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12815145">McManus and Kelleher (2003)</a> reviewed the pathogenic mechanisms underlying celiac disease. Tissue transglutaminase, which is the target of endomysial autoantibody (<a href="#16" class="mim-tip-reference" title="Dieterich, W., Ehnis, T., Bauer, M., Donner, P., Volta, U., Riecken, E. O., Schuppan, D. &lt;strong&gt;Identification of tissue transglutaminase as the autoantigen of celiac disease.&lt;/strong&gt; Nature Med. 3: 797-801, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9212111/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9212111&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm0797-797&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9212111">Dieterich et al., 1997</a>), is expressed on the subepithelial layer of intestinal epithelium, where it deamidates the glutamine residues in gliadin, resulting in glutamic acids. Deamidated peptides adhere strongly to the binding grooves of HLA-DQ2 and DQ8 molecules and elicit strong T-cell responses (<a href="#55" class="mim-tip-reference" title="Molberg, O., Mcadam, S. N., Korner, R., Quarsten, H., Kristiansen, C., Madsen, L., Fugger, L., Scott, H., Noren, O., Roepstorff, P., Lundin, K. E. A., Sjostrom, H., Sollid, L. M. &lt;strong&gt;Tissue transglutaminase selectively modifies gliadin peptides that are recognized by gut-derived T cells in celiac disease.&lt;/strong&gt; Nature Med. 4: 713-717, 1998. Note: Erratum: Nature Med. 4: 974 only, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9623982/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9623982&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm0698-713&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9623982">Molberg et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9623982+12815145+9212111" 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="#24" class="mim-tip-reference" title="Gianfrani, C., Troncone, R., Mugione, P., Cosentini, E., De Pascale, M., Faruolo, C., Senger, S., Terrazzano, G., Southwood, S., Auricchio, S., Sette, A. &lt;strong&gt;Celiac disease association with CD8+ T cell responses: identification of a novel gliadin-derived HLA-A2-restricted epitope.&lt;/strong&gt; J. Immun. 170: 2719-2726, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12594302/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12594302&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.4049/jimmunol.170.5.2719&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12594302">Gianfrani et al. (2003)</a> found that CD8 (see <a href="/entry/186910">186910</a>)-positive T cells from peripheral blood of CD patients on gluten-free diets, but not cells from patients on gluten-containing diets or healthy controls, produced IFNG (<a href="/entry/147570">147570</a>) in response to a gliadin-derived peptide. However, gliadin peptide-specific cells were isolated from small intestinal mucosa of patients on either diet, and these cells were capable of recognizing full-length gliadin in an MHC class I-restricted manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12594302" 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="#80" class="mim-tip-reference" title="Vader, W., Stepniak, D., Kooy, Y., Mearin, L., Thompson, A., van Rood, J. J., Spaenij, L., Koning, F. &lt;strong&gt;The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses.&lt;/strong&gt; Proc. Nat. Acad. Sci. 100: 12390-12395, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14530392/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14530392&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.2135229100&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14530392">Vader et al. (2003)</a> noted that although HLA-DQ2-bound peptides are thought to cause CD, only HLA-DQ2.5, and not HLA-DQ2.2, predisposes to disease. They compared gluten-specific T-cell responses in the context of HLA-DQ2.5 and HLA-DQ2.2 molecules and found that HLA-DQ2.5 could present a large repertoire of gluten peptides, whereas HLA-DQ2.2 could present only a subset of these peptides. Peptide presentation was superior in HLA-DQ2 homozygous antigen-presenting cells compared with HLA-DQ2/non-DQ2 cells. HLA-DQ2.5/DQ2.2 heterozygous cells induced intermediate levels of proliferation and cytokine secretion. <a href="#80" class="mim-tip-reference" title="Vader, W., Stepniak, D., Kooy, Y., Mearin, L., Thompson, A., van Rood, J. J., Spaenij, L., Koning, F. &lt;strong&gt;The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses.&lt;/strong&gt; Proc. Nat. Acad. Sci. 100: 12390-12395, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14530392/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14530392&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.2135229100&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14530392">Vader et al. (2003)</a> concluded that there is an HLA-DQ2 gene dose effect in the development of CD. They suggested that, since HLA-DQ expression is regulated by MHC2TA (<a href="/entry/600005">600005</a>), which is in turn influenced by IFNG, local responses to infection may lead to increased gluten-specific T-cell responses, particularly in HLA-DQ2.5 homozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14530392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Kim, C.-Y., Quarsten, H., Bergseng, E., Khosla, C., Sollid, L. M. &lt;strong&gt;Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 101: 4175-4179, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15020763/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15020763&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15020763[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0306885101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15020763">Kim et al. (2004)</a> presented results indicating that the HLA association in celiac disease can be explained by a superior ability of DQ2 to bind the biased repertoire of proline-rich gluten peptides that have survived gastrointestinal digestion and that have deamidated by tissue transglutaminase. Furthermore, they showed that surface-exposed proline residues in the proteolytically resistant ligand could be replaced with functionalized analogs, thereby providing a starting point for the design of orally active agents for blocking gluten-induced toxicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15020763" 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>HLA-DQ2 has a key role in the disease by presenting gluten peptides to CD4+ cells in the lamina propria of the intestine (<a href="#2" class="mim-tip-reference" title="Arentz-Hansen, H., Korner, R., Molberg, O., Quarsten, H., Vader, W., Kooy, Y. M. C., Lundin, K. E. A., Koning, F., Roepstorff, P., Sollid, L. M., McAdam, S. N. &lt;strong&gt;The intestinal T cell response to alpha-gliadin in adult celiac disease is focused on a single deamidated glutamine targeted by tissue transglutaminase.&lt;/strong&gt; J. Exp. Med. 191: 603-612, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10684852/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10684852&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10684852[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1084/jem.191.4.603&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10684852">Arentz-Hansen et al., 2000</a>). Much of the research on celiac disease was focused on the activation and regulation of gluten-reactive T cells. The etiologic steps that preceded this T-cell activation were poorly understood; for example, YRB antigenic gluten peptides are resistant to further breakdown in the intestinal lumen, and how do the gluten peptides pass through the intestinal barrier? Evidence that the integrity of the intestinal barrier is impaired in active celiac disease (<a href="#71" class="mim-tip-reference" title="Schulzke, J. D., Schulzke, I., Fromm, M., Riecken, E. O. &lt;strong&gt;Epithelial barrier and ion transport in coeliac sprue: electrical measurements on intestinal aspiration biopsy specimens.&lt;/strong&gt; Gut 37: 777-782, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8537047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8537047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.37.6.777&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8537047">Schulzke et al., 1995</a>; <a href="#81" class="mim-tip-reference" title="Van Elburg, R. M., Uil, J. J., Mulder, C. J., Heymans, H. S. &lt;strong&gt;Intestinal permeability in patients with coeliac disease and relatives of patients with coeliac disease.&lt;/strong&gt; Gut 34: 354-357, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8472983/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8472983&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.34.3.354&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8472983">Van Elburg et al., 1993</a>) implies that the epithelial cell barrier has evolved in the early pathogenesis of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8537047+8472983+10684852" 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="#54" class="mim-tip-reference" title="Meresse, B., Chen, Z., Ciszewski, C., Tretiakova, M., Bhagat, G., Krausz, T. N., Raulet, D. H., Lanier, L. L., Groh, V., Spies, T., Ebert, E. C., Green, P. H., Jabri, B. &lt;strong&gt;Coordinated induction by IL15 of a TCR-independent NKG2D signaling pathway converts CTL into lymphokine-activated killer cells in celiac disease.&lt;/strong&gt; Immunity 21: 357-366, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15357947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15357947&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.immuni.2004.06.020&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15357947">Meresse et al. (2004)</a> studied intestinal CTLs obtained from healthy subjects and patients with CD. They noted that, in CD patients, intraepithelial CTLs are constitutively exposed to high levels of IL15 (<a href="/entry/600554">600554</a>). <a href="#54" class="mim-tip-reference" title="Meresse, B., Chen, Z., Ciszewski, C., Tretiakova, M., Bhagat, G., Krausz, T. N., Raulet, D. H., Lanier, L. L., Groh, V., Spies, T., Ebert, E. C., Green, P. H., Jabri, B. &lt;strong&gt;Coordinated induction by IL15 of a TCR-independent NKG2D signaling pathway converts CTL into lymphokine-activated killer cells in celiac disease.&lt;/strong&gt; Immunity 21: 357-366, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15357947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15357947&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.immuni.2004.06.020&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15357947">Meresse et al. (2004)</a> found that, in the effector stage, CD8-positive CTLs from healthy subjects could be armed for NKG2D (<a href="/entry/602893">602893</a>)-mediated lysis by IL15. Intraepithelial CTLs from CD patients, unless they were on a gluten-free diet, also expressed high levels of NKG2D, as well as MIC (MICA; <a href="/entry/600169">600169</a>) and DAP10 (<a href="/entry/604089">604089</a>), and exhibited significant NK-like activity accompanied by ERK (see <a href="/entry/176948">176948</a>) activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15357947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunohistopathologic and flow cytometric analyses, <a href="#39" class="mim-tip-reference" title="Hue, S., Mention, J.-J., Monteiro, R. C., Zhang, S., Cellier, C., Schmitz, J., Verkarre, V., Fodil, N., Bahram, S., Cerf-Bensussan, N., Caillat-Zucman, S. &lt;strong&gt;A direct role for NKG2D/MICA interaction in villous atrophy during Celiac disease.&lt;/strong&gt; Immunity 21: 367-377, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15357948/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15357948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.immuni.2004.06.018&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15357948">Hue et al. (2004)</a> found increased expression of MICA at epithelial cell surfaces in CD patients exposed to gliadin. Patient biopsy specimens exposed to an IL15-inducing gliadin fragment did not express MICA in the presence of anti-IL15. Cytotoxicity assays showed that NKG2D played primarily a costimulatory role on intraepithelial lymphocytes (IELs), with a TCR-mediated signal required for complete activation. However, in refractory celiac sprue patients, NKG2D mediated a direct activating signal. ELISA detected soluble MICA in serum in half of untreated CD patients, but in few patients on gluten-free diets; the presence of soluble MICA was independent of MICA genotype. <a href="#39" class="mim-tip-reference" title="Hue, S., Mention, J.-J., Monteiro, R. C., Zhang, S., Cellier, C., Schmitz, J., Verkarre, V., Fodil, N., Bahram, S., Cerf-Bensussan, N., Caillat-Zucman, S. &lt;strong&gt;A direct role for NKG2D/MICA interaction in villous atrophy during Celiac disease.&lt;/strong&gt; Immunity 21: 367-377, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15357948/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15357948&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.immuni.2004.06.018&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15357948">Hue et al. (2004)</a> proposed that villous atrophy in CD may be ascribed to IEL-mediated damage to enterocytes involving NKG2D-MICA interaction after gliadin-induced expression of MICA on gut epithelium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15357948" 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="#72" class="mim-tip-reference" title="Shan, L., Molberg, O., Parrot, I., Hausch, F., Filiz, F., Gray, G. M., Sollid, L. M., Khosla, C. &lt;strong&gt;Structural basis for gluten intolerance in celiac sprue.&lt;/strong&gt; Science 297: 2275-2279, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12351792/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12351792&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1074129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12351792">Shan et al. (2002)</a> identified a 33-mer peptide that is glutamine and proline rich that has several characteristics suggesting it is the primary initiator of inflammatory response to gluten in celiac sprue patients. In vitro and in vivo studies in rats and humans demonstrated that this 33-mer is stable toward breakdown by all gastric, pancreatic, and intestinal brushborder membrane proteases. The peptide reacted with tissue transglutaminase, a major autoantigen in celiac sprue, with substantially greater selectivity than natural substrates of this extracellular enzyme. The 33-mer was a potent inducer of gut-derived human T cell lines from 14 of 14 celiac sprue patients. Homologs of this peptide were found in all food grains that are toxic to celiac sprue patients but were absent from all nontoxic food grains. The peptide could be detoxified in in vitro and in vivo assays by exposure to a bacterial prolyl endopeptidase, suggesting a strategy for oral peptidase supplement therapy for celiac sprue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351792" 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="#37" class="mim-tip-reference" title="Hovhannisyan, Z., Weiss, A., Martin, A., Wiesner, M., Tollefsen, S., Yoshida, K., Ciszewski, C., Curran, S. A., Murray, J. A., David, C. S., Sollid, L. M., Koning, F., Teyton, L., Jabri, B. &lt;strong&gt;The role of HLA-DQ8 beta-57 polymorphism in the anti-gluten T-cell response in coeliac disease.&lt;/strong&gt; Nature 456: 534-538, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19037317/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19037317&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19037317[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature07524&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19037317">Hovhannisyan et al. (2008)</a> showed that the HLA-DQ8 beta-57 polymorphism (lacking the canonical aspartic acid residue at position 57) promotes the recruitment of T cell receptors bearing a negative signature charge in the complementary determining region 3-beta (CDR3-beta) during the response against native gluten peptides presented by HLA-DQ8 in celiac disease. These T cells showed a cross-reactive and heteroclitic (stronger) response to deamidated gluten peptides. Furthermore, gluten peptide deamidation extended the T cell receptor repertoire by relieving the requirement for a charged residue in CDR3-beta. Thus, <a href="#37" class="mim-tip-reference" title="Hovhannisyan, Z., Weiss, A., Martin, A., Wiesner, M., Tollefsen, S., Yoshida, K., Ciszewski, C., Curran, S. A., Murray, J. A., David, C. S., Sollid, L. M., Koning, F., Teyton, L., Jabri, B. &lt;strong&gt;The role of HLA-DQ8 beta-57 polymorphism in the anti-gluten T-cell response in coeliac disease.&lt;/strong&gt; Nature 456: 534-538, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19037317/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19037317&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19037317[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature07524&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19037317">Hovhannisyan et al. (2008)</a> concluded that the lack of a negative charge at position beta-57 in MHC class II was met by negatively charged residues in the T cell receptor or in the peptide, the combination of which might explain the role of HLA-DQ8 in amplifying the T cell response against dietary gluten. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19037317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mice, <a href="#15" class="mim-tip-reference" title="DePaolo, R. W., Abadie, V., Tang, F., Fehlner-Peach, H., Hall, J. A., Wang, W., Marietta, E. V., Kasarda, D. D., Waldmann, T. A., Murray, J. A., Semrad, C., Kupfer, S. S., Belkaid, Y., Guandalini, S., Jabri, B. &lt;strong&gt;Co-adjuvant effects of retinoic acid and IL-15 induce inflammatory immunity to dietary antigens.&lt;/strong&gt; Nature 471: 220-224, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21307853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21307853&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21307853[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature09849&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21307853">DePaolo et al. (2011)</a> found that in conjunction with IL15, a cytokine greatly upregulated in the gut of celiac disease patients, retinoic acid rapidly activates dendritic cells to induce JNK (also known as MAPK8, <a href="/entry/601158">601158</a>) phosphorylation and release the proinflammatory cytokines IL12p70 (see <a href="/entry/161561">161561</a>) and IL23 (see <a href="/entry/605580">605580</a>). As a result, in a stressed intestinal environment, retinoic acid acted as an adjuvant that promoted rather then prevented inflammatory cellular and humoral responses to fed antigen. <a href="#15" class="mim-tip-reference" title="DePaolo, R. W., Abadie, V., Tang, F., Fehlner-Peach, H., Hall, J. A., Wang, W., Marietta, E. V., Kasarda, D. D., Waldmann, T. A., Murray, J. A., Semrad, C., Kupfer, S. S., Belkaid, Y., Guandalini, S., Jabri, B. &lt;strong&gt;Co-adjuvant effects of retinoic acid and IL-15 induce inflammatory immunity to dietary antigens.&lt;/strong&gt; Nature 471: 220-224, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21307853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21307853&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21307853[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature09849&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21307853">DePaolo et al. (2011)</a> concluded that their data showed an unexpected role for retinoic acid and IL15 in the abrogation of tolerance to dietary antigens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21307853" 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="#30" class="mim-tip-reference" title="Gruper, Y., Wolff, A. S. B., Glanz, L., Spoutil, F., Marthinussen, M. C., Osickova, A., Herzig, Y., Goldfarb, Y., Aranaz-Novaliches, G., Dobes, J., Kadouri, N., Ben-Nun, O., and 28 others. &lt;strong&gt;Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.&lt;/strong&gt; Nature 624: 653-662, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37993717/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37993717&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41586-023-06776-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37993717">Gruper et al. (2023)</a> investigated the mechanism of autoimmune amelogenesis imperfecta, which affects individuals with autoimmune polyendocrine syndrome type I (APS1; <a href="/entry/240300">240300</a>) and children affected with celiac disease. The vast majority (70 to 90%) of patients with APS1 develop IgA autoantibodies against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. Normally, AIRE expression in the thymus induces tolerance of ameloblast-specific protein. The lack of AIRE expression in APS1 and in AIRE-null mice results in a breakdown of central tolerance, and subsequent generation of autobodies that interfere with enamel formation. In celiac disease the generation of enamel autoantibodies appears to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel. Twenty to 50% of children affected with celiac disease manifest amelogenesis imperfecta; enamel defects are rarely seen in patients with celiac disease with later onset. Only secondary teeth are affected. <a href="#30" class="mim-tip-reference" title="Gruper, Y., Wolff, A. S. B., Glanz, L., Spoutil, F., Marthinussen, M. C., Osickova, A., Herzig, Y., Goldfarb, Y., Aranaz-Novaliches, G., Dobes, J., Kadouri, N., Ben-Nun, O., and 28 others. &lt;strong&gt;Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.&lt;/strong&gt; Nature 624: 653-662, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/37993717/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;37993717&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41586-023-06776-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="37993717">Gruper et al. (2023)</a> showed that patients with celiac disease have higher levels of IgA autoantibodies against the enamel proteins LAMB3 (<a href="/entry/150310">150310</a>), ACPT (<a href="/entry/606362">606362</a>), KLK4 (<a href="/entry/603767">603767</a>), AMELX (<a href="/entry/300391">300391</a>), FAM20A (<a href="/entry/611062">611062</a>), and ENAM (<a href="/entry/606585">606585</a>) compared with control individuals without celiac disease. TGM2 (<a href="/entry/190196">190196</a>) and LAMB3 are dental and intestinal antigens, and kappa-casein (CSN3; <a href="/entry/601695">601695</a>) is a dairy-based antigen. All 3 induce antibodies in celiac disease that interfere with enamel formation. The severity of the amelogenesis imperfecta relates to the duration of exposure and severity to autoantibodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37993717" 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>Celiac disease has a strong heritable component, although the inheritance is complex and multifactorial (summary by <a href="#56" class="mim-tip-reference" title="Monsuur, A. J., de Bakker, P. I. W., Alizadeh, B. Z., Zhernakova, A., Bevova, M. R., Strengman, E., Franke, L., van&#x27;t Slot, R., van Belzen, M. J., Lavrijsen, I. C. M., Diosdado, B., Daly, M. J., Mulder, C. J. J., Mearin, M. L., Meijer, J. W. R., Meijer, G. A., van Oort, E., Wapenaar, M. C., Koeleman, B. P. C., Wijmenga, C. &lt;strong&gt;Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.&lt;/strong&gt; Nature Genet. 37: 1341-1344, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16282976/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16282976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1680&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16282976">Monsuur et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16282976" 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="#49" class="mim-tip-reference" title="MacDonald, W. C., Dobbins, W. O., III, Rubin, C. E. &lt;strong&gt;Studies of the familial nature of celiac sprue using biopsy of the small intestine.&lt;/strong&gt; New Eng. J. Med. 272: 448-456, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14242522/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14242522&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196503042720903&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14242522">MacDonald et al. (1965)</a> suggested that the mechanism of inheritance is autosomal dominant with incomplete penetrance. <a href="#21" class="mim-tip-reference" title="Frezal, J., Rey, J. &lt;strong&gt;Genetics of disorders of intestinal digestion and absorption.&lt;/strong&gt; Adv. Hum. Genet. 1: 275-336, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4950284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4950284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/978-1-4684-0958-1_5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4950284">Frezal and Rey (1970)</a> reviewed the subject and concluded that mendelism is unlikely. Familial aggregation was undoubted, however. Of 3 pairs of carefully studied identical twins, only one pair was concordantly affected. The authors thought this made a single gene hypothesis unlikely, especially in view of the invariable anatomic relapse on reexposure to gluten, even without clinical or biochemical signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4950284+14242522" 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="#65" class="mim-tip-reference" title="Robinson, D. C., Watson, A. J., Wyatt, E. H., Marks, J. M., Roberts, D. F. &lt;strong&gt;Incidence of small-intestinal mucosal abnormalities and of clinical coeliac disease in the relatives of children with coeliac disease.&lt;/strong&gt; Gut 12: 789-793, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5123260/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5123260&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.12.10.789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5123260">Robinson et al. (1971)</a> concluded that celiac disease is multifactorial, the causative genetic component being polygenic and interacting with environmental factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5123260" 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="#14" class="mim-tip-reference" title="David, T. J., Ajdukiewicz, A. B. &lt;strong&gt;A family study of celiac disease.&lt;/strong&gt; J. Med. Genet. 12: 79-82, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1121023/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1121023&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.12.1.79&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1121023">David and Ajdukiewicz (1975)</a> found that 13 of 141 cases (9%) of overt, biopsy-proven celiac disease had a definitely affected relative. <a href="#27" class="mim-tip-reference" title="Greenberg, D. A., Hodge, S. E., Rotter, J. I. &lt;strong&gt;Evidence for recessive and against dominant inheritance at the HLA-&#x27;linked&#x27; locus in coeliac disease.&lt;/strong&gt; Am. J. Hum. Genet. 34: 263-277, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6951410/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6951410&lt;/a&gt;]" pmid="6951410">Greenberg et al. (1982)</a> presented additional data supporting the hypothesis that GSE results from the interaction of 2 loci: one linked to HLA and associated with recessive inheritance and the other a non-HLA-linked GSE-associated B-cell alloantigen also exhibiting recessive inheritance ('a recessive-recessive 2-locus model'). <a href="#28" class="mim-tip-reference" title="Greenberg, D. A., Lange, K. L. &lt;strong&gt;A maximum likelihood test of the two locus model for coeliac disease.&lt;/strong&gt; Am. J. Med. Genet. 12: 75-82, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7091198/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7091198&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320120110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7091198">Greenberg and Lange (1982)</a> rejected a dominant-recessive 2-locus model, but could not reject a double recessive model. Furthermore, they concluded that affected sib pair HLA data are inconsistent with single-locus dominant or recessive models with environmentally-caused reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7091198+6951410+1121023" 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="#84" class="mim-tip-reference" title="Weiss, J. B., Austin, R. K., Schanfield, M. S., Kagnoff, M. F. &lt;strong&gt;Gluten-sensitive enteropathy: immunoglobulin G heavy-chain (Gm) allotypes and the immune response to wheat gliadin.&lt;/strong&gt; J. Clin. Invest. 72: 96-101, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6409931/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6409931&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/jci110988&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6409931">Weiss et al. (1983)</a> found antigliadin antibody in GSE patients on a gluten-free diet only when they had the IgG immunoglobulin heavy chain allotype marker G2m(n). Antibody occurred in these persons regardless of whether HLA-B8 and/or HLA-DR3 antigen was present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6409931" 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>Analyzing published pedigrees, <a href="#78" class="mim-tip-reference" title="Tiwari, J. L., Betuel, H., Gebuhrer, L., Morton, N. E. &lt;strong&gt;Genetic epidemiology of coeliac disease.&lt;/strong&gt; Genet. Epidemiol. 1: 37-42, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6336186/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6336186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/gepi.1370010106&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6336186">Tiwari et al. (1984)</a> concluded that a gene 'with a frequency of 0.022, which is nearly recessive on the penetrance scale,' is responsible; that less than one-eighth of DR3 and DR7 haplotypes carry a determinant for celiac disease and that the determinant is linked to HLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6336186" 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="#73" class="mim-tip-reference" title="Simoons, F. J. &lt;strong&gt;Celiac disease as a geographic problem. In: Walcher, D. N.; Kretchmer, N. (eds.): Food, Nutrition and Evolution.&lt;/strong&gt; New York: Masson (pub.) 1981."None>Simoons (1981)</a> observed a negative correlation between the frequency of antigen HLA-B8 and the length of time that wheat farming has been practiced in various parts of Europe. He put forward the hypothesis that this gene was selected against because of associated gluten intolerance (celiac disease).</p><p><a href="#47" class="mim-tip-reference" title="Lin, H. J., Rotter, J. I., Conte, W. J. &lt;strong&gt;Use of HLA marker associations and HLA haplotype linkage to estimate disease risks in families with gluten-sensitive enteropathy.&lt;/strong&gt; Clin. Genet. 28: 185-198, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3877582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3877582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00386.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3877582">Lin et al. (1985)</a> stated that 'available evidence is most consistent with the hypothesis that the genetic predisposition to GSE is due to disease alleles at two unlinked loci.' One of the loci is linked to HLA. They reviewed the high concordance in monozygotic twins. The concordance for celiac disease in monozygotic twins has been estimated to be 71%. However, <a href="#69" class="mim-tip-reference" title="Salazar de Sousa, J., Ramos de Almeida, J. M., Monteiro, M. V., Ramalho, P. M. &lt;strong&gt;Late onset coeliac disease in the monozygotic twin of a coeliac child.&lt;/strong&gt; Acta Paediat. Scand. 76: 172-174, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3564998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3564998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1987.tb10442.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3564998">Salazar de Sousa et al. (1987)</a> reported an instance of identical twins in whom the diagnosis of celiac disease was made in one at age 2.5 years and in the other at age 10.5 years, intestinal biopsy at age 3 years and 10 months having been normal. <a href="#69" class="mim-tip-reference" title="Salazar de Sousa, J., Ramos de Almeida, J. M., Monteiro, M. V., Ramalho, P. M. &lt;strong&gt;Late onset coeliac disease in the monozygotic twin of a coeliac child.&lt;/strong&gt; Acta Paediat. Scand. 76: 172-174, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3564998/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3564998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1651-2227.1987.tb10442.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3564998">Salazar de Sousa et al. (1987)</a> questioned whether discordance for celiac disease is ever permanent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3564998+3877582" 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>Susceptibility to celiac disease has a strong genetic component, demonstrated by a high prevalence rate (10%) among first-degree relatives and a high concordance rate (approximately 70%) among monozygotic twins (<a href="#74" class="mim-tip-reference" title="Sollid, L. M., Thorsby, E. &lt;strong&gt;HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis.&lt;/strong&gt; Gastroenterology 105: 910-922, 1993. Note: Erratum: Gastroenterology 106: 1133 only, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8359659/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8359659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0016-5085(93)90912-v&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8359659">Sollid and Thorsby, 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8359659" 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="#38" class="mim-tip-reference" title="Howell, M. D., Smith, J. R., Austin, R. K., Kelleher, D., Nepom, G. T., Volk, B., Kagnoff, M. F. &lt;strong&gt;An extended HLA-D region haplotype associated with celiac disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 85: 222-226, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2893373/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2893373&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.85.1.222&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2893373">Howell et al. (1988)</a> described a RFLP haplotype of the HLA-D region that is associated with celiac disease. <a href="#52" class="mim-tip-reference" title="Mannion, A., Stevens, F. M., McCarthy, C. F., Grimes-O&#x27;Cearbhaill, H., Killeen, A. A. &lt;strong&gt;Extended major histocompatibility complex haplotypes in celiac patients in the west of Ireland.&lt;/strong&gt; Am. J. Med. Genet. 45: 373-377, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8434627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8434627&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320450319&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8434627">Mannion et al. (1993)</a> reported that 1 extended MHC haplotype accounted for 50% of haplotypes from celiac patients and only 27% of MHC haplotypes in 'nontransmitting' parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8434627+2893373" 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>Genes outside the HLA region are likely to be involved in the genetic susceptibility as the concordance rate among monozygotic twins (70%) differs from that among HLA-identical sibs (30%) (<a href="#77" class="mim-tip-reference" title="Strober, W. &lt;strong&gt;Gluten-sensitive enteropathy.In: King, R. A.; Rotter, J. I.; Motulsky, A. G. (eds). : The Genetic Basis of Common Diseases.&lt;/strong&gt; New York: Oxford University Press 1992. Pp. 279-304."None>Strober, 1992</a>).</p><p>Dermatitis herpetiformis (<a href="/entry/601230">601230</a>) is frequently associated with duodenojejunal villous atrophy similar to that found in gluten-sensitive enteropathy (<a href="#11" class="mim-tip-reference" title="Brow, J. R., Parker, F., Weinstein, W. M., Rubin, C. E. &lt;strong&gt;The small intestinal mucosa in dermatitis herpetiformis. I. Severity and distribution of the small intestinal lesion and associated malabsorption.&lt;/strong&gt; Gastroenterology 60: 355-361, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5554077/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5554077&lt;/a&gt;]" pmid="5554077">Brow et al., 1971</a>). Like celiac disease, dermatitis herpetiformis shows a high frequency of HLA-A8 (<a href="#18" class="mim-tip-reference" title="Falchuk, Z. M., Rogentine, G. N., Strober, W. &lt;strong&gt;Predominance of histocompatibility antigen HL-A 8 in patients with gluten-sensitive enteropathy.&lt;/strong&gt; J. Clin. Invest. 51: 1602-1605, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5024049/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5024049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI106958&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5024049">Falchuk et al., 1972</a>; <a href="#43" class="mim-tip-reference" title="Katz, S. I., Falchuk, Z. M., Dahl, M. V., Rogentine, G. N., Strober, W. &lt;strong&gt;HL-A 8: a genetic link between dermatitis herpetiformis and gluten-sensitive enteropathy.&lt;/strong&gt; J. Clin. Invest. 51: 2977-2980, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5080422/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5080422&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI107123&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5080422">Katz et al., 1972</a>). DH and CD are gluten-sensitive diseases that have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 and B1*0201. <a href="#64" class="mim-tip-reference" title="Reunala, T. &lt;strong&gt;Incidence of familial dermatitis herpetiformis.&lt;/strong&gt; Brit. J. Derm. 134: 394-398, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8731659/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8731659&lt;/a&gt;]" pmid="8731659">Reunala (1996)</a> reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5554077+5080422+5024049+8731659" 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>Based on a sib recurrence risk of 10% and a population prevalence of 0.0033, the overall sib relative risk for celiac disease is 30. <a href="#6" class="mim-tip-reference" title="Bevan, S., Popat, S., Braegger, C. P., Busch, A., O&#x27;Donoghue, D., Falth-Magnusson, K., Ferguson, A., Godkin, A., Hogberg, L., Holmes, G., Hosie, K. B., Howdle, P. D., and 15 others. &lt;strong&gt;Contribution of the MHC region to the familial risk of coeliac disease.&lt;/strong&gt; J. Med. Genet. 36: 687-690, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10507725/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10507725&lt;/a&gt;]" pmid="10507725">Bevan et al. (1999)</a> examined haplotype-sharing probabilities across the MHC region in 55 families with celiac disease. Based on these probabilities, they calculated the sib relative risk of celiac disease associated with the MHC region to be 3.7. They combined this result with published data and estimated the sib relative risk associated with the MHC region to be 3.3. Under the assumption of a multiplicative interaction between HLA- and non-HLA-linked loci, <a href="#6" class="mim-tip-reference" title="Bevan, S., Popat, S., Braegger, C. P., Busch, A., O&#x27;Donoghue, D., Falth-Magnusson, K., Ferguson, A., Godkin, A., Hogberg, L., Holmes, G., Hosie, K. B., Howdle, P. D., and 15 others. &lt;strong&gt;Contribution of the MHC region to the familial risk of coeliac disease.&lt;/strong&gt; J. Med. Genet. 36: 687-690, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10507725/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10507725&lt;/a&gt;]" pmid="10507725">Bevan et al. (1999)</a> concluded that MHC genes contribute no more than 40% of the sib familial risk of celiac disease and that non-HLA-linked genes are likely to be the stronger determinant of celiac disease susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507725" 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="#31" class="mim-tip-reference" title="Hervonen, K., Karell, K., Holopainen, P, Collin, P., Partanen, J., Reunala, T. &lt;strong&gt;Concordance of dermatitis herpetiformis and celiac disease in monozygous twins.&lt;/strong&gt; J. Invest. Derm. 115: 990-993, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11121131/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11121131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1747.2000.00172.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11121131">Hervonen et al. (2000)</a> studied 6 monozygotic twin pairs found among 1,292 prospectively collected patients with dermatitis herpetiformis in Finland. Three of the 6 twin pairs were concordant for dermatitis herpetiformis. Two other twin pairs were partially discordant: 1 of each pair had dermatitis herpetiformis and celiac disease, whereas the other had only celiac disease. Only 1 pair was found to be discordant for gluten sensitivity. All the pairs had typical risk alleles for gluten sensitivity, i.e., either HLA-DQ2 or -DQ8. These results demonstrated that the genetic component in gluten sensitivity as broadly defined is very strong (5/6 concordant). <a href="#31" class="mim-tip-reference" title="Hervonen, K., Karell, K., Holopainen, P, Collin, P., Partanen, J., Reunala, T. &lt;strong&gt;Concordance of dermatitis herpetiformis and celiac disease in monozygous twins.&lt;/strong&gt; J. Invest. Derm. 115: 990-993, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11121131/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11121131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1523-1747.2000.00172.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11121131">Hervonen et al. (2000)</a> concluded that genetically identical individuals can have clearly distinguished phenotypes, either dermatitis herpetiformis or celiac disease, suggesting that environmental factors determine the exact phenotype of this multifactorial disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11121131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Bourgain, C., Genin, E., Quesneville, H., Clerget-Darpoux, F. &lt;strong&gt;Search for multifactorial disease susceptibility genes in founder populations.&lt;/strong&gt; Ann. Hum. Genet. 64: 255-265, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11409410/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11409410&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1469-1809.2000.6430255.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11409410">Bourgain et al. (2000)</a> developed a method, the maximum identity length contrast (MILC) statistic, for the study of multifactorial diseases in isolated populations. The major characteristic of MILC is that, unlike most previously proposed methods for the study of complex diseases in founder populations, it does not make the assumption that all carriers of a susceptibility allele inherited it from a single common ancestor. Although this assumption may be true for the rare mutations involved in monogenic diseases, it is likely to be irrelevant for many genetic risk factors involved in complex diseases. The MILC method relies on the fact that, even though not all affected individuals carrying the susceptibility allele had received it from the same single ancestor, they have a stronger kinship coefficient at the disease locus than do unaffected individuals. Affected individuals are thus more likely to share common haplotypes in the vicinity of the disease locus than are control subjects. The MILC approach compares the identity length of parental haplotypes that are transmitted to affected offspring with the identity length of those that are not transmitted to affected offspring. <a href="#8" class="mim-tip-reference" title="Bourgain, C., Genin, E., Holopainen, P., Mustalahti, K., Maki, M., Partanen, J., Clerget-Darpoux, F. &lt;strong&gt;Use of closely related affected individuals for the genetic study of complex diseases in founder populations.&lt;/strong&gt; Am. J. Hum. Genet. 68: 154-159, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102286/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11102286&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11102286[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/316933&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11102286">Bourgain et al. (2001)</a> used the MILC approach to analyze the role of HLA in celiac disease and showed that the effect of HLA may be detected with the MILC approach by typing only 11 affected individuals who were part of a single large Finnish pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11409410+11102286" 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="#26" class="mim-tip-reference" title="Greco, L., Romino, R., Coto, I., Di Cosmo, N., Percopo, S., Maglio, M., Paparo, F., Gasperi, V., Limongelli, MG., Cotichini, R., D&#x27;Agate, C., Tinto, N., Sacchetti, L., Tosi, R., Stazi, MA. &lt;strong&gt;The first population based twin study of coeliac disease.&lt;/strong&gt; Gut 50: 624-628, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11950806/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11950806&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.50.5.624&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11950806">Greco et al. (2002)</a> stated that the genetic contribution to celiac disease had previously been inferred from case series and anecdotal case reports of concordant twin pairs. By crossmatching a registry of individuals with celiac disease with a national twin registry, <a href="#26" class="mim-tip-reference" title="Greco, L., Romino, R., Coto, I., Di Cosmo, N., Percopo, S., Maglio, M., Paparo, F., Gasperi, V., Limongelli, MG., Cotichini, R., D&#x27;Agate, C., Tinto, N., Sacchetti, L., Tosi, R., Stazi, MA. &lt;strong&gt;The first population based twin study of coeliac disease.&lt;/strong&gt; Gut 50: 624-628, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11950806/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11950806&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.50.5.624&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11950806">Greco et al. (2002)</a> were able to study 47 twin pairs with at least 1 affected twin. Zygosity was confirmed in all same-sex cases using standard techniques. Each individual was typed for HLA class II DRB1 (<a href="/entry/142857">142857</a>) and DQB1. Concordance rates for MZ twins were higher than for DZ twins (0.86 vs 0.20). A logistic regression model, corrected for age, sex, number of shared HLA haplotypes, and zygosity showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 conferred to the non-index twin a relative risk of contracting the disease of 3.3 and 1.4, respectively. The relative risk of being concordant for celiac disease for the non-index twin of an MZ twin pair was 17 (95% CI, 2.1-134), independent of the DQ at-risk genotype. This study provided evidence for a very strong genetic component to celiac disease, only partially due to HLA genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950806" 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="#58" class="mim-tip-reference" title="Naluai, A. T., Ascher, H., Nilsson, S., Wahlstrom, J. &lt;strong&gt;Searching for genes influencing a complex disease: the case of coeliac disease.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 542-553, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17726483/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17726483&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201918&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17726483">Naluai et al. (2008)</a> reviewed the genetics of celiac disease with an emphasis on the non-HLA genetic component, and discussed the difficulties of searching for susceptibility genes in disorders with complex inheritance patterns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17726483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>CELIAC1 on Chromosome 6p21.3</em></strong></p><p>
<a href="#48" class="mim-tip-reference" title="Liu, J., Juo, S.-H., Holopainen, P., Terwilliger, J., Tong, X., Grunn, A., Brito, M., Green, P., Mustalahti, K., Maki, M., Gilliam, T. C., Partanen, J. &lt;strong&gt;Genomewide linkage analysis of celiac disease in Finnish families.&lt;/strong&gt; Am. J. Hum. Genet. 70: 51-59, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11715113/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11715113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/338453&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11715113">Liu et al. (2002)</a> performed a genomewide scan of CD in 60 Finnish families and identified strong evidence for linkage to the HLA region at chromosome 6p21.3. The role of HLA-DQ was studied in more detail by analysis of DQB1 alleles (<a href="/entry/604305">604305</a>) in all 98 families. All but 1 patient carried 1 or 2 HLA-DQ risk alleles, and 65% of HLA-DQ2 carriers were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11715113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using pooled data from the European Genetics Cluster on Coeliac Disease, <a href="#3" class="mim-tip-reference" title="Babron, M.-C., Nilsson, S., Adamovic, S., Naluai, A. T., Wahlstrom, J., Ascher, H., Ciclitira, P. J., Sollid, L. M., Partanen, J., Greco, L., Clerget-Darpoux, F., European Genetics Cluster on Coeliac Disease. &lt;strong&gt;Meta and pooled analysis of European coeliac disease data.&lt;/strong&gt; Europ. J. Hum. Genet. 11: 828-834, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14571266/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14571266&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201051&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14571266">Babron et al. (2003)</a> performed meta- and megaanalyses of genotype data from 2,025 individuals, 1,056 of whom had celiac disease. They confirmed the association to the HLA region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571266" 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>CELIAC2 on Chromosome 5q31-q33</em></strong></p><p>
See CELIAC2 (<a href="/entry/609754">609754</a>) for a celiac disease susceptibility locus on chromosome 5q31-q33.</p><p><strong><em>CELIAC3 on Chromosome 2q33</em></strong></p><p>
See CELIAC3 (<a href="/entry/609755">609755</a>) for a celiac disease susceptibility locus on chromosome 2q33. This locus is associated with variation in the CTLA4 gene (<a href="/entry/123890">123890</a>).</p><p><strong><em>CELIAC4 on Chromosome 19p13.1</em></strong></p><p>
See CELIAC4 (<a href="/entry/609753">609753</a>) for a celiac disease susceptibility locus on chromosome 19p13.1. This locus is associated with mutation in the MYO9B gene (<a href="/entry/602129">602129</a>).</p><p><strong><em>CELIAC5 on Chromosome 15q11-q13</em></strong></p><p>
See CELIAC5 (<a href="/entry/607202">607202</a>) for a celiac disease susceptibility locus on chromosome 15q11-q13.</p><p><strong><em>CELIAC6 on Chromosome 4q27</em></strong></p><p>
See CELIAC6 (<a href="/entry/611598">611598</a>) for a celiac disease susceptibility locus on chromosome 4q27 within a linkage disequilibrium (LD) block encompassing the KIAA1109 (<a href="/entry/611565">611565</a>), TENR (ADAD1), IL2 (<a href="/entry/147680">147680</a>), and IL21 (<a href="/entry/605384">605384</a>) genes.</p><p><strong><em>CELIAC7 on Chromosome 1q31</em></strong></p><p>
See CELIAC7 (<a href="/entry/612005">612005</a>) for a celiac disease susceptibility locus on chromosome 1q31. This locus may be associated with variation in the RGS1 gene (<a href="/entry/600323">600323</a>).</p><p><strong><em>CELIAC8 on Chromosome 2q11-q12</em></strong></p><p>
See CELIAC8 (<a href="/entry/612006">612006</a>) for a celiac disease susceptibility locus on chromosome 2q11-q12 within a linkage disequilibrium block encompassing the IL18RAP (<a href="/entry/604509">604509</a>) and IL18R1 (<a href="/entry/604494">604494</a>) genes.</p><p><strong><em>CELIAC9 on Chromosome 3p21</em></strong></p><p>
See CELIAC9 (<a href="/entry/612007">612007</a>) for a celiac disease susceptibility locus on chromosome 3p21 within a linkage disequilibrium block encompassing a cluster of chemokine receptor genes.</p><p><strong><em>CELIAC10 on Chromosome 3q25-q26</em></strong></p><p>
See CELIAC10 (<a href="/entry/612008">612008</a>) for a celiac disease susceptibility locus on chromosome 3q25-q26 within a 70-kD linkage disequilibrium block near the IL12A gene (<a href="/entry/161560">161560</a>).</p><p><strong><em>CELIAC11 on Chromosome 3q28</em></strong></p><p>
See CELIAC11 (<a href="/entry/612009">612009</a>) for a celiac disease susceptibility locus on chromosome 3q28 within a linkage disequilibrium block near the LPP gene (<a href="/entry/600700">600700</a>).</p><p><strong><em>CELIAC12 on Chromosome 6q25</em></strong></p><p>
See CELIAC12 (<a href="/entry/612010">612010</a>) for a celiac disease susceptibility locus on chromosome 6q25 within a linkage disequilibrium block encompassing the TAGAP gene (<a href="/entry/609667">609667</a>).</p><p><strong><em>CELIAC13 on Chromosome 12q24</em></strong></p><p>
See CELIAC13 (<a href="/entry/612011">612011</a>) for a celiac disease susceptibility locus on chromosome 12q24. This locus may be associated with variation in the SH2B3 gene (<a href="/entry/605093">605093</a>).</p><p><strong><em>Genomewide Linkage and Association Studies</em></strong></p><p>
<a href="#86" class="mim-tip-reference" title="Zhong, F., McCombs, C. C., Olson, J. M., Elston, R. C., Stevens, F. M., McCarthy, C. F., Michalski, J. P. &lt;strong&gt;An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland.&lt;/strong&gt; Nature Genet. 14: 329-333, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896565/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8896565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-329&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8896565">Zhong et al. (1996)</a> presented evidence for linkage of at least 1 non-HLA locus to celiac disease. They commented that the HLA component of celiac disease (a specific HLA-DQ heterodimer) is largely established and relatively uncomplicated; furthermore, the environmental component (gluten and related grain storage proteins in the diet) is well understood. Previous work had suggested that at least 1 non-HLA locus might be a stronger genetic factor than HLA, and that it may operate as an autosomal recessive. <a href="#86" class="mim-tip-reference" title="Zhong, F., McCombs, C. C., Olson, J. M., Elston, R. C., Stevens, F. M., McCarthy, C. F., Michalski, J. P. &lt;strong&gt;An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland.&lt;/strong&gt; Nature Genet. 14: 329-333, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896565/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8896565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-329&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8896565">Zhong et al. (1996)</a> used a 3-step genome screening protocol to identify loci that contribute to celiac disease in the western counties of Ireland, a region with the highest prevalence of celiac disease in the world (<a href="#57" class="mim-tip-reference" title="Mylotte, M., Egan-Mitchell, B., McCarthy, C. F., McNicholl, B. &lt;strong&gt;Incidence of coeliac disease in the west of Ireland.&lt;/strong&gt; Brit. Med. J. 1: 703-705, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4694691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4694691&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bmj.1.5855.703&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4694691">Mylotte et al., 1973</a>). The most significant of several possible non-HLA loci that they found was on chromosome 6p about 30 cM telomeric from HLA. It had a multipoint maximum lod score of 4.66 (compared with 4.44 for HLA-DQ) and appeared to have a recessive mode of inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4694691+8896565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In linkage analysis of 28 celiac disease families, <a href="#36" class="mim-tip-reference" title="Houlston, R. S., Tomlinson, I. P. M., Ford, D., Seal, S., Marossy, A. M., Ferguson, A., Holmes, G. K. T., Hosie, K. B., Howdle, P. D., Jewell, D. P., Godkin, A., Kerr, G. D., Kumar, P., Logan, R. F. A., Love, A. H. G., Johnston, S., Marsh, M. N., Mitton, S., O&#x27;Donoghue, D., Roberts, A., Walker-Smith, J. A., Stratton, M. F. &lt;strong&gt;Linkage analysis of candidate regions for coeliac disease genes.&lt;/strong&gt; Hum. Molec. Genet. 6: 1335-1339, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9259281/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9259281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.8.1335&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9259281">Houlston et al. (1997)</a> could find no support for a predisposition locus telomeric to HLA on chromosome 6p. There also was no significant evidence in favor of linkage to 8 other chromosomal regions that had previously been suspect. There was, however, excess sharing of alleles close to D15S642. The maximum nonparametric linkage score was 1.99 (P = 0.03). Although the evidence for linkage of celiac disease to 15q26 was not strong, the well established association between celiac disease and insulin-dependent diabetes mellitus, together with the mapping of an IDDM susceptibility locus (IDDM3; <a href="/entry/600318">600318</a>) to 15q26, provided indirect support for this as a candidate locus conferring susceptibility to celiac disease in some families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9259281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an independent study, <a href="#10" class="mim-tip-reference" title="Brett, P. M., Yiannakou, J. Y., Morris, M.-A., Bronson, S. R., Mathew, C., Curtis, D., Ciclitira, P. J. &lt;strong&gt;A pedigree-based linkage study of coeliac disease: failure to replicate previous positive findings.&lt;/strong&gt; Ann. Hum. Genet. 62: 25-32, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9659975/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9659975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1469-1809.1998.6210025.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9659975">Brett et al. (1998)</a> were also unable to replicate the results of <a href="#86" class="mim-tip-reference" title="Zhong, F., McCombs, C. C., Olson, J. M., Elston, R. C., Stevens, F. M., McCarthy, C. F., Michalski, J. P. &lt;strong&gt;An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland.&lt;/strong&gt; Nature Genet. 14: 329-333, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896565/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8896565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-329&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8896565">Zhong et al. (1996)</a>. They granted that the difficulties involved in analyzing complex diseases mean that one cannot be certain that the regions pointed to by <a href="#86" class="mim-tip-reference" title="Zhong, F., McCombs, C. C., Olson, J. M., Elston, R. C., Stevens, F. M., McCarthy, C. F., Michalski, J. P. &lt;strong&gt;An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland.&lt;/strong&gt; Nature Genet. 14: 329-333, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8896565/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8896565&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1196-329&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8896565">Zhong et al. (1996)</a> did not, in fact, harbor susceptibility loci, at least in some families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9659975+8896565" 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="#45" class="mim-tip-reference" title="King, A. L., Fraser, J. S., Moodie, S. J., Curtis, D., Dearlove, A. M., Ellis, H. J., Rosen-Bronson, S., Ciclitira, P. J. &lt;strong&gt;Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11.&lt;/strong&gt; Ann. Hum. Genet. 65: 377-386, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11592927/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11592927&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/S0003480001008703&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11592927">King et al. (2001)</a> reviewed various studies on linkage to non-HLA loci for celiac disease. Their own genomewide linkage study (<a href="#46" class="mim-tip-reference" title="King, A. L., Yiannakou, J. Y., Brett, P. M., Curtis, D., Morris, M.-A., Dearlove, A. M., Rhodes, R., Rosen-Bronson, S., Mathew, C., Ellis, H. J., Ciclitira, P. J. &lt;strong&gt;A genome-wide family-based linkage study of coeliac disease.&lt;/strong&gt; Ann. Hum. Genet. 64: 479-490, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11281212/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11281212&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1469-1809.2000.6460479.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11281212">King et al., 2000</a>) genotyped 16 highly informative pedigrees for 400 microsatellite markers spanning the entire genome with an average marker spacing of 10 cM. They identified 17 potentially linked regions with lod scores significant at p less than 0.05. In a later study, <a href="#45" class="mim-tip-reference" title="King, A. L., Fraser, J. S., Moodie, S. J., Curtis, D., Dearlove, A. M., Ellis, H. J., Rosen-Bronson, S., Ciclitira, P. J. &lt;strong&gt;Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11.&lt;/strong&gt; Ann. Hum. Genet. 65: 377-386, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11592927/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11592927&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/S0003480001008703&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11592927">King et al. (2001)</a> investigated these 17 regions in a larger set of pedigrees using more finely spaced markers. The study involved 34 additional highly informative pedigrees to a total of 50 multiply affected families. By 2-point and 3-point linkage analysis using classic and model-free methods, they identified 5 potential susceptibility loci with heterogeneity scores greater than 2.0. The most significant was a heterogeneity lod of 2.6 at D11S914 on 11p11. This marker mapped to a position implicated in 1 of the 2 previous genome scans; taken together, these results provided strong support for the existence of a susceptibility locus in that region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11592927+11281212" 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="#35" class="mim-tip-reference" title="Holopainen, P., Mustalahti, K., Uimari, P., Collin, P., Maki, M., Partanen, J. &lt;strong&gt;Candidate gene regions and genetic heterogeneity in gluten sensitivity.&lt;/strong&gt; Gut 48: 696-701, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11302971/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11302971&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.48.5.696&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11302971">Holopainen et al. (2001)</a> studied 102 Finnish families with affected sib pairs who had gluten sensitivity and found evidence of linkage to 11q (maximum lod score, 1.37) but no linkage to 5q. Heterogeneity between subgroups was suggested: families with only intestinal disease showed linkage mainly to 2q33, whereas families with dermatitis herpetiformis showed linkage to 11q and 5q, but not to 2q33. Linkage in all 3 non-HLA loci was strongest in families with predominantly male patients; HLA-DQ2 conferred much stronger susceptibility to females than males. <a href="#35" class="mim-tip-reference" title="Holopainen, P., Mustalahti, K., Uimari, P., Collin, P., Maki, M., Partanen, J. &lt;strong&gt;Candidate gene regions and genetic heterogeneity in gluten sensitivity.&lt;/strong&gt; Gut 48: 696-701, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11302971/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11302971&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/gut.48.5.696&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11302971">Holopainen et al. (2001)</a> noted that possible linkage heterogeneity suggested that there are genetic differences between intestinal and skin manifestations and for the gender-dependent effect of HLA-DQ2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11302971" 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="#59" class="mim-tip-reference" title="Naluai, A. T., Nilsson, S., Gudjonsdottir, A. H., Louka, A. S., Ascher, H., Ek, J., Hallberg, B., Samuelsson, L., Kristiansson, B., Martinsson, T., Nerman, O., Sollid, L. M., Wahlstrom, J. &lt;strong&gt;Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11.&lt;/strong&gt; Europ. J. Hum. Genet. 9: 938-944, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11840196/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11840196&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200752&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11840196">Naluai et al. (2001)</a> performed a genomewide scan including 398 microsatellite markers on 106 Swedish and Norwegian families with at least 2 affected sibs with CD. By nonparametric linkage (NPL) analysis, 8 chromosomal regions besides the HLA-region on 6p were found to have nominal P values below 0.05. The regions were 2q11-q13, 3p24, 5q31-q33, 9p21, 11p15, 11q23-q25, 17q22, and Xp11, among which 5q and 11q both had been suggested in previous linkage studies. The finding on chromosome X was interesting due to the excess of affected females in CD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11840196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 60 Finnish families, <a href="#48" class="mim-tip-reference" title="Liu, J., Juo, S.-H., Holopainen, P., Terwilliger, J., Tong, X., Grunn, A., Brito, M., Green, P., Mustalahti, K., Maki, M., Gilliam, T. C., Partanen, J. &lt;strong&gt;Genomewide linkage analysis of celiac disease in Finnish families.&lt;/strong&gt; Am. J. Hum. Genet. 70: 51-59, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11715113/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11715113&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/338453&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11715113">Liu et al. (2002)</a> identified suggestive evidence for linkage at 6 non-HLA chromosome regions. They analyzed linkage for 3 of these regions in an additional 38 families and found that the chromosome 4p15 region gave a lod score of 3.25 on multipoint analysis with dense markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11715113" 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>To identify non-HLA loci for CD, <a href="#60" class="mim-tip-reference" title="Neuhausen, S. L., Feolo, M., Camp, N. J., Farnham, J., Book, L., Zone, J. J. &lt;strong&gt;Genome-wide linkage analysis for celiac disease in North American families.&lt;/strong&gt; Am. J. Med. Genet. 111: 1-9, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12124726/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12124726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10527&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12124726">Neuhausen et al. (2002)</a> performed a genomewide search on 62 families with at least 2 cases of CD. Accounting for multiple testing, they found genomewide intermediate linkage evidence at 18q (hlod = 3.6) and at 3p (hlod = 3.2), and suggested linkage at 5p (hlod = 2.7). They did not find a good consensus between 2-point and multipoint evidence, and after genotyping with new markers in the regions stated, the results were inconclusive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12124726" 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>To identify risk variants contributing to celiac disease susceptibility other than those in the HLA-DQ region, <a href="#40" class="mim-tip-reference" title="Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others. &lt;strong&gt;Newly identified genetic risk variants for celiac disease related to the immune response.&lt;/strong&gt; Nature Genet. 40: 395-402, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18311140/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18311140&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18311140[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18311140">Hunt et al. (2008)</a> genotyped 1,020 of the most strongly associated non-HLA markers identified by <a href="#82" class="mim-tip-reference" title="van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others. &lt;strong&gt;A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.&lt;/strong&gt; Nature Genet. 39: 827-829, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17558408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17558408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng2058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17558408">van Heel et al. (2007)</a> in an additional 1,643 cases of celiac disease and 3,406 controls. The most significant SNP outside the HLA-DQ region and the previously identified IL2/IL21 region (see CELIAC6, <a href="/entry/611598">611598</a>) was <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2816316;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2816316</a> (p overall = 2.58 x 10(-11)), located on chromosome 1q31 (see CELIAC7, <a href="/entry/612005">612005</a>). Six additional regions showed significant association (see CELIAC8, <a href="/entry/612006">612006</a>; CELIAC9, <a href="/entry/612007">612007</a>; CELIAC10, <a href="/entry/612008">612008</a>; CELIAC11, <a href="/entry/612009">612009</a>; CELIAC12, <a href="/entry/612010">612010</a>; and CELIAC13, <a href="/entry/612011">612011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17558408+18311140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, <a href="#66" class="mim-tip-reference" title="Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M. T., Wijmenga, C. &lt;strong&gt;Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.&lt;/strong&gt; J. Med. Genet. 46: 60-63, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18805825/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18805825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061457&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18805825">Romanos et al. (2009)</a> analyzed 9 SNPs tagging 8 celiac disease loci previously reported by <a href="#40" class="mim-tip-reference" title="Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A. R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., Gwilliam, R., Takeuchi, F., and 25 others. &lt;strong&gt;Newly identified genetic risk variants for celiac disease related to the immune response.&lt;/strong&gt; Nature Genet. 40: 395-402, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18311140/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18311140&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18311140[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18311140">Hunt et al. (2008)</a> and confirmed association with 6 of them, but found no association with the CELIAC8 locus on chromosome 3p21 or CELIAC9 locus on chromosome 2q11-q12. The authors noted that this was the first celiac disease association study in a southern European cohort, and suggested that there may be population differences across Europe regarding the loci contributing to celiac disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18805825+18311140" 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>GSE in Irish setter dogs was proposed by Batt et al. (<a href="#4" class="mim-tip-reference" title="Batt, R. M., Carter, M. W., McLean, L. &lt;strong&gt;Morphological and biochemical studies of a naturally occurring enteropathy in the Irish setter dog: a comparison with coeliac disease in man.&lt;/strong&gt; Res. Vet. Sci. 37: 339-346, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6522828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6522828&lt;/a&gt;]" pmid="6522828">1984</a>, <a href="#5" class="mim-tip-reference" title="Batt, R. M., McLean, L., Carter, M. W. &lt;strong&gt;Sequential morphologic and biochemical studies of naturally occurring wheat-sensitive enteropathy in Irish setter dogs.&lt;/strong&gt; Dig. Dis. Sci. 32: 184-194, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3026759/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3026759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01297107&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3026759">1987</a>) as an animal model for human celiac disease. As in the human, the gluten fraction of wheat induces various degrees of villus atrophy, and withdrawal of wheat from the diet leads to recovery of the normal villus structure and a remission of clinical signs. <a href="#63" class="mim-tip-reference" title="Polvi, A., Garden, O. A., Houlston, R. S., Maki, M., Batt, R. M., Partanen, J. &lt;strong&gt;Genetic susceptibility to gluten sensitive enteropathy in Irish setter dogs is not linked to the major histocompatibility complex.&lt;/strong&gt; Tissue Antigens 52: 543-549, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9894853/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9894853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0039.1998.tb03085.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9894853">Polvi et al. (1998)</a> studied the canine major histocompatibility complex (MHC) in 2 large families of gluten-sensitive Irish setter dogs. They could detect no linkage between GSE and the MHC class II gene cluster. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6522828+9894853+3026759" 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="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. &lt;strong&gt;IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.&lt;/strong&gt; Nature 578: 600-604, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32051586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32051586&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32051586[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41586-020-2003-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32051586">Abadie et al. (2020)</a> described a mouse model that reproduces the overexpression of IL15 (<a href="/entry/600554">600554</a>) in the gut epithelium and lamina propria that is characteristic of active celiac disease, expresses the predisposing HLA-DQ8 molecule (see <a href="/entry/146880">146880</a>), and develops villous atrophy after ingestion of gluten. Overexpression of IL15 in both the epithelium and the lamina propria was required for the development of villous atrophy, which demonstrated the location-dependent central role of IL15 in the pathogenesis of celiac disease. In addition, <a href="#1" class="mim-tip-reference" title="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. &lt;strong&gt;IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.&lt;/strong&gt; Nature 578: 600-604, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32051586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32051586&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32051586[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41586-020-2003-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32051586">Abadie et al. (2020)</a> showed that CD4+ T cells and HLA-DQ8 have a crucial role in the licensing of cytotoxic T cells to mediate intestinal epithelial cell lysis. <a href="#1" class="mim-tip-reference" title="Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others. &lt;strong&gt;IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.&lt;/strong&gt; Nature 578: 600-604, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32051586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32051586&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=32051586[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41586-020-2003-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32051586">Abadie et al. (2020)</a> also demonstrated a role for the cytokine interferon-gamma (IFNG; <a href="/entry/147570">147570</a>) and the enzyme transglutaminase-2 (TGM2; <a href="/entry/190196">190196</a>) in tissue destruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32051586" 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 id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Bjarnason1983" class="mim-tip-reference" title="Bjarnason, I., Peters, T. J., Veall, N. &lt;strong&gt;A persistent defect in intestinal permeability in coeliac disease demonstrated by a (51)Cr-labelled EDTA absorption test.&lt;/strong&gt; Lancet 321: 323-325, 1983. Note: Originally Volume I.">Bjarnason et al. (1983)</a>; <a href="#Gardiner1973" class="mim-tip-reference" title="Gardiner, A. J., Mutton, K. J., Walker-Smith, J. A. &lt;strong&gt;A family study of coeliac disease.&lt;/strong&gt; Aust. Paediat. J. 9: 18-24, 1973.">Gardiner et al. (1973)</a>; <a href="#Gebhard1974" class="mim-tip-reference" title="Gebhard, R. L., Falchuk, Z. M., Katz, S. I., Sessoms, C., Rogentine, G. N., Strober, W. &lt;strong&gt;Immunologic concomitants of small intestinal disease and relationship to histocompatibility antigen HL-A8.&lt;/strong&gt; J. Clin. Invest. 54: 98-103, 1974.">Gebhard et al.
(1974)</a>; <a href="#Greenberg1981" class="mim-tip-reference" title="Greenberg, D. A., Rotter, J. I. &lt;strong&gt;Two locus models for gluten sensitive enteropathy: population genetic considerations.&lt;/strong&gt; Am. J. Med. Genet. 8: 205-214, 1981.">Greenberg and Rotter (1981)</a>; <a href="#Pena1978" class="mim-tip-reference" title="Pena, A. S., Mann, D. L., Hague, N. E., Heck, J. A., van Leeuwen, A., van Rood, J. J., Strober, W. &lt;strong&gt;Genetic basis of gluten-sensitive enteropathy.&lt;/strong&gt; Gastroenterology 75: 230-235, 1978.">Pena et al. (1978)</a>; <a href="#Sagaro1981" class="mim-tip-reference" title="Sagaro, E., Jimenez, N. &lt;strong&gt;Family studies of coeliac disease in Cuba.&lt;/strong&gt; Arch. Dis. Child. 56: 132-133, 1981.">Sagaro and
Jimenez (1981)</a>; <a href="#Savilahti1983" class="mim-tip-reference" title="Savilahti, E., Viander, M., Perkkio, M., Vainio, E., Kalimo, K., Reunala, T. &lt;strong&gt;IgA antigliadin antibodies: a marker of mucosal damage in childhood coeliac disease.&lt;/strong&gt; Lancet 321: 320-322, 1983. Note: Originally Volume I.">Savilahti et al. (1983)</a>; <a href="#Stokes1976" class="mim-tip-reference" title="Stokes, P. L., Ferguson, R., Holmes, G. K. T., Cooke, W. T. &lt;strong&gt;Familial aspects of coeliac disease.&lt;/strong&gt; Quart. J. Med. 45: 567-582, 1976.">Stokes et al. (1976)</a>; <a href="#Strober1975" class="mim-tip-reference" title="Strober, W., Falchuk, Z. M., Rogentine, G. N., Nelson, D. L., Klaeveman, H. L. &lt;strong&gt;The pathogenesis of gluten-sensitive enteropathy.&lt;/strong&gt; Ann. Intern. Med. 83: 242-256, 1975.">Strober et al. (1975)</a>; <a href="#Weinstein1971" class="mim-tip-reference" title="Weinstein, W. M., Brow, J. R., Parker, F., Rubin, C. E. &lt;strong&gt;The small intestinal mucosa in dermatitis herpetiformis. II. Relationship of the small intestinal lesion to gluten.&lt;/strong&gt; Gastroenterology 60: 362-369, 1971.">Weinstein et al. (1971)</a>
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<a id="1" class="mim-anchor"></a>
<a id="Abadie2020" class="mim-anchor"></a>
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Abadie, V., Kim, S. M., Lejeune, T., Palanski, B. A., Ernest, J. D., Tastet, O., Voisine, J., Discepolo, V., Marietta, E. V., Hawash, M. B. F., Ciszewski, C., Bouziat, R., and 11 others.
<strong>IL-15, gluten and HLA-DQ8 drive tissue destruction in coeliac disease.</strong>
Nature 578: 600-604, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32051586[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32051586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41586-020-2003-8" target="_blank">Full Text</a>]
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<a id="Arentz-Hansen2000" class="mim-anchor"></a>
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Arentz-Hansen, H., Korner, R., Molberg, O., Quarsten, H., Vader, W., Kooy, Y. M. C., Lundin, K. E. A., Koning, F., Roepstorff, P., Sollid, L. M., McAdam, S. N.
<strong>The intestinal T cell response to alpha-gliadin in adult celiac disease is focused on a single deamidated glutamine targeted by tissue transglutaminase.</strong>
J. Exp. Med. 191: 603-612, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10684852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10684852</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10684852[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10684852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1084/jem.191.4.603" target="_blank">Full Text</a>]
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<a id="Babron2003" class="mim-anchor"></a>
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Babron, M.-C., Nilsson, S., Adamovic, S., Naluai, A. T., Wahlstrom, J., Ascher, H., Ciclitira, P. J., Sollid, L. M., Partanen, J., Greco, L., Clerget-Darpoux, F., European Genetics Cluster on Coeliac Disease.
<strong>Meta and pooled analysis of European coeliac disease data.</strong>
Europ. J. Hum. Genet. 11: 828-834, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5201051" target="_blank">Full Text</a>]
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<a id="Batt1984" class="mim-anchor"></a>
<div class="">
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[<a href="https://doi.org/10.1007/BF01297107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(83)91628-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/316933" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1469-1809.2000.6430255.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)91766-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/gut.50.5.624" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/338453" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM196503042720903" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(96)70237-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMoa021687" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450319" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMcibr035033" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/00365529850172052" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0039.1998.tb03085.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)81699-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.56.2.132" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1987.tb10442.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(83)91627-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0016-5085(93)90912-v" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-83-2-242" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/gepi.1370010106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199112123252406" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.2135229100" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/gut.34.3.354" target="_blank">Full Text</a>]
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van Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M. C., Barnardo, M. C. N. M., Bethel, G., Holmes, G. K. T., Feighery, C., Jewell, D., and 16 others.
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[<a href="https://doi.org/10.1038/ng2058" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/jci110988" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.05.004" target="_blank">Full Text</a>]
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Zhong, F., McCombs, C. C., Olson, J. M., Elston, R. C., Stevens, F. M., McCarthy, C. F., Michalski, J. P.
<strong>An autosomal screen for genes that predispose to celiac disease in the western counties of Ireland.</strong>
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[<a href="https://doi.org/10.1038/ng1196-329" target="_blank">Full Text</a>]
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<strong>#</strong> 212750
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CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
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<em>Alternative titles; symbols</em>
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CELIAC SPRUE, SUSCEPTIBILITY TO, 1<br />
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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6p21.32
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{Celiac disease, susceptibility to}
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212750
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Autosomal recessive; Multifactorial
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3
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HLA-DQA1
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146880
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6p21.32
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{Celiac disease, susceptibility to}
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212750
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Autosomal recessive; Multifactorial
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3
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HLA-DQB1
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604305
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because susceptibility to celiac disease-1 (CELIAC1) has been found to be genetically determined by possession of specific HLA-DQ alleles (see 146880 and 604305) on chromosome 6p21.3; this region has been designated CELIAC1.</p>
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<strong>Description</strong>
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<p>Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005). </p><p>For a discussion of genetic heterogeneity of celiac disease, see MAPPING.</p>
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<strong>Clinical Features</strong>
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<p>In individuals with celiac disease, ingestion of gluten leads to inflammation and tissue remodeling of the intestinal mucosa, resulting in malnutrition and severe complications (summary by Monsuur et al., 2005). </p><p>Because of anecdotal accounts of an association between celiac disease and epilepsy with cerebral calcifications that resembled those of Sturge-Weber syndrome (185300), Gobbi et al. (1992) studied 43 patients: 31 patients with cerebral calcifications of unexplained origin and epilepsy underwent intestinal biopsy, and 12 patients with celiac disease and epilepsy underwent computed tomography. Of the first series, 24 were identified as having CD on the basis of flat intestinal mucosa; 15 of 22 had a high concentration of serum antigluten. Of the 12 patients in the second series, 5 showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of the 29, calcifications were located in the parietooccipital regions. Only 2 patients of the first series had gastrointestinal symptoms at the time of intestinal biopsy; however, most patients had recurrent diarrhea, anemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of 'atypical Sturge-Weber syndrome' (characterized by serpiginous cerebral calcifications and epilepsy without facial port-wine nevus) should be reviewed for possible celiac disease, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin. </p><p>Maki and Collin (1997) noted that in some cases of celiac disease, extraintestinal symptoms such as dermatitis herpetiformis (DH; 601230) and neurologic symptoms are also present. </p><p>Fasano (2003) listed the atypical clinical manifestations of celiac disease, which include osteoporosis, chronic fatigue, irritable bowel, and miscarriage. </p><p><strong><em>Reviews</em></strong></p><p>
Farrell and Kelly (2002) reviewed all aspects of celiac sprue. </p>
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<strong>Diagnosis</strong>
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<p>Of 30 asymptomatic children with a genetic risk for celiac disease and positive transglutaminase antibodies studied by Hoffenberg et al. (2000), 21 had definite and 4 possible small bowel biopsy evidence for celiac disease, yielding a positive predictive value of 70 to 83% by antibody detection. Maki et al. (2003) screened serum samples from 3,654 Finnish students, aged 7 to 16 years, and screened them for endomysial and tissue transglutaminase antibodies. In 56 (1.5%) the antibody tests were found to be positive, despite the fact that none of the subjects had received a clinical diagnosis of celiac disease (although 10 who had positive tests for both antibodies and serum in early stages of the study later received a diagnosis of celiac disease). In 27 of 36 subjects with positive antibody assays who agreed to have intestinal biopsy, 27 had evidence of celiac disease. Thus, the estimated biopsy-proved prevalence was 1 case in 99 children. All but 2 of the antibody-positive subjects had either the HLA-DQ2 or the HLA-DQ8 haplotype. The prevalence of the combination of antibody positivity and an HLA haplotype associated with celiac disease was 1 in 67. </p><p>Fasano (2003) urged increased awareness of the celiac disease on the part of health care professionals, especially primary care physicians, because of the high rate of morbidity related to untreated celiac disease and the typical delay in diagnosis. He also urged a low threshold for the use of serologic tests as pivotal both to alleviate the social and personal costs of the disease and to increase the quality of life for the many persons affected by celiac disease. </p>
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<strong>Population Genetics</strong>
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<p>Trier (1991) pointed to prevalence rates of celiac disease ranging from 1:300 in western Ireland (Mylotte et al., 1973) to between 1:1,000 and 1:2,000 in other regions of Europe. </p><p>In the United States, the disease is exceedingly rare when the criteria for diagnosis rely on classic symptoms such as diarrhea and short stature (Rossi et al., 1993), but by broadening the clinical indication Hill et al. (2000) found that antibody screening indicated a higher prevalence, similar to that in Europe. </p><p>Greater awareness of the presentation of celiac disease and the availability of accurate serologic tests led to the realization that the disorder is relatively common, affecting 1 of every 120 to 300 persons in both Europe (Johnston et al., 1998; Catassi et al., 1996) and North America (Not et al., 1998). </p><p>Maki et al. (2003) estimated that the prevalence of celiac disease among Finnish schoolchildren is at least 1 case in 99 children. </p><p>With a prevalence close to 1% (Dube et al., 2005), celiac disease is the most common food intolerance in general Western populations. </p><p>Zhernakova et al. (2010) assessed signatures of natural selection for 10 confirmed celiac disease loci in several genomewide datasets comprising 8,154 controls from 4 European (British, Dutch, Italian and Finnish) populations and 195 individuals from a North African (Saharawi) population. They found consistent signs of positive selection for celiac disease-associated alleles at 3 loci, with the strongest signatures of selection observed for rs17810546 from the IL12A locus (CELIAC10; 612008). Consistent signs of positive selection were also seen for rs3184504 at SH2B3 (CELIAC13; 612011) in the European populations, and rs917997 from the IL18RAP locus (CELIAC8; 612006) showed a borderline-significant signature for the European and North African populations. Functional investigation of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide showed that carriers of the SH2B3 rs3184504 risk allele showed stronger activation of the NOD2 recognition pathway, suggesting that SH2B3 plays a role in protection against bacterial infection and providing a possible explanation for the selective sweep. </p><p>By serum antiendomysial antibody (AEA) analysis and histologic confirmation, Catassi et al. (1999) determined that CD prevalence in a Saharawi population living in Algeria was 5.6%, more than 5 times that in any European population. Catassi et al. (1999) speculated that celiac enteropathy may confer protection from intestinal infections/parasites in this population. </p>
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<strong>Pathogenesis</strong>
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<p>Falchuk et al. (1972) found that a particular HLA type (A8) showed an abnormally high frequency in patients with this disorder. They interpreted this as indicating the presence of an abnormal 'immune response gene,' leading to the production of pathogenic antigluten antibody, or, alternatively, a particular membrane configuration leading to binding of gluten to mucosal cells with subsequent tissue damage. </p><p>Trier (1991) reviewed all aspects of celiac sprue, including genetic factors. Concordance for celiac sprue in identical twins approximates 70% as compared with 30% concordance in HLA-identical sibs. The disease had been found to be associated with HLA-DR3 and HLA-DQw2 in all populations tested. The proportion of gamma-delta TCR (T cell receptor)-bearing intraepithelial lymphocytes is increased in the jejunum of patients with active celiac disease. </p><p>By studying healthy first-degree relatives of celiac patients, Holm et al. (1992) found that 45 of 109 (41%) had an increased density of gamma-delta T cells in their mucosa and 66% had an increased density of alpha-beta T cells. By contrast with alpha-beta T cells, the density of gamma-delta cells was significantly associated with genetic markers for celiac disease susceptibility: DR3, DQA (146880), and DQB (604305). They also found a dosage effect of DQA and DQB genes on the number of intraepithelial gamma-delta T cells. </p><p>IgA antibodies to endomysium, a structure of the smooth muscle connective tissue, are particularly specific indicators of celiac disease, suggesting that this structure contains one or more target autoantigens that play a role in the pathogenesis of the disease. Dieterich et al. (1997) identified tissue transglutaminase (TGM2; 190196) as the endomysial autoantigen involved. </p><p>Karell et al. (2002) evaluated the role of the HLA-DQ locus in 25 families in which both classic CD and dermatitis herpetiformis (601230) occurred in sibs. By using a family-based approach, they assumed that within each family, variation in environmental factors was substantially lower than in the standard case-control setting, and that the problems related to population stratification could be avoided. Results from Finnish family material comprising 25 discordant and 85 concordant sib pairs, and from case-control material comprising 71 unrelated Hungarian dermatitis herpetiformis and 68 classic CD patients, together indicated that the HLA-DQ locus did not differ between the 2 major outcomes of gluten-sensitive enteropathy. Karell et al. (2002) concluded that the non-HLA-DR;DQ factors are crucial for the different clinical manifestations of gluten sensitivity. </p><p>McManus and Kelleher (2003) reviewed the pathogenic mechanisms underlying celiac disease. Tissue transglutaminase, which is the target of endomysial autoantibody (Dieterich et al., 1997), is expressed on the subepithelial layer of intestinal epithelium, where it deamidates the glutamine residues in gliadin, resulting in glutamic acids. Deamidated peptides adhere strongly to the binding grooves of HLA-DQ2 and DQ8 molecules and elicit strong T-cell responses (Molberg et al., 1998). </p><p>Gianfrani et al. (2003) found that CD8 (see 186910)-positive T cells from peripheral blood of CD patients on gluten-free diets, but not cells from patients on gluten-containing diets or healthy controls, produced IFNG (147570) in response to a gliadin-derived peptide. However, gliadin peptide-specific cells were isolated from small intestinal mucosa of patients on either diet, and these cells were capable of recognizing full-length gliadin in an MHC class I-restricted manner. </p><p>Vader et al. (2003) noted that although HLA-DQ2-bound peptides are thought to cause CD, only HLA-DQ2.5, and not HLA-DQ2.2, predisposes to disease. They compared gluten-specific T-cell responses in the context of HLA-DQ2.5 and HLA-DQ2.2 molecules and found that HLA-DQ2.5 could present a large repertoire of gluten peptides, whereas HLA-DQ2.2 could present only a subset of these peptides. Peptide presentation was superior in HLA-DQ2 homozygous antigen-presenting cells compared with HLA-DQ2/non-DQ2 cells. HLA-DQ2.5/DQ2.2 heterozygous cells induced intermediate levels of proliferation and cytokine secretion. Vader et al. (2003) concluded that there is an HLA-DQ2 gene dose effect in the development of CD. They suggested that, since HLA-DQ expression is regulated by MHC2TA (600005), which is in turn influenced by IFNG, local responses to infection may lead to increased gluten-specific T-cell responses, particularly in HLA-DQ2.5 homozygotes. </p><p>Kim et al. (2004) presented results indicating that the HLA association in celiac disease can be explained by a superior ability of DQ2 to bind the biased repertoire of proline-rich gluten peptides that have survived gastrointestinal digestion and that have deamidated by tissue transglutaminase. Furthermore, they showed that surface-exposed proline residues in the proteolytically resistant ligand could be replaced with functionalized analogs, thereby providing a starting point for the design of orally active agents for blocking gluten-induced toxicity. </p><p>HLA-DQ2 has a key role in the disease by presenting gluten peptides to CD4+ cells in the lamina propria of the intestine (Arentz-Hansen et al., 2000). Much of the research on celiac disease was focused on the activation and regulation of gluten-reactive T cells. The etiologic steps that preceded this T-cell activation were poorly understood; for example, YRB antigenic gluten peptides are resistant to further breakdown in the intestinal lumen, and how do the gluten peptides pass through the intestinal barrier? Evidence that the integrity of the intestinal barrier is impaired in active celiac disease (Schulzke et al., 1995; Van Elburg et al., 1993) implies that the epithelial cell barrier has evolved in the early pathogenesis of the disease. </p><p>Meresse et al. (2004) studied intestinal CTLs obtained from healthy subjects and patients with CD. They noted that, in CD patients, intraepithelial CTLs are constitutively exposed to high levels of IL15 (600554). Meresse et al. (2004) found that, in the effector stage, CD8-positive CTLs from healthy subjects could be armed for NKG2D (602893)-mediated lysis by IL15. Intraepithelial CTLs from CD patients, unless they were on a gluten-free diet, also expressed high levels of NKG2D, as well as MIC (MICA; 600169) and DAP10 (604089), and exhibited significant NK-like activity accompanied by ERK (see 176948) activation. </p><p>Using immunohistopathologic and flow cytometric analyses, Hue et al. (2004) found increased expression of MICA at epithelial cell surfaces in CD patients exposed to gliadin. Patient biopsy specimens exposed to an IL15-inducing gliadin fragment did not express MICA in the presence of anti-IL15. Cytotoxicity assays showed that NKG2D played primarily a costimulatory role on intraepithelial lymphocytes (IELs), with a TCR-mediated signal required for complete activation. However, in refractory celiac sprue patients, NKG2D mediated a direct activating signal. ELISA detected soluble MICA in serum in half of untreated CD patients, but in few patients on gluten-free diets; the presence of soluble MICA was independent of MICA genotype. Hue et al. (2004) proposed that villous atrophy in CD may be ascribed to IEL-mediated damage to enterocytes involving NKG2D-MICA interaction after gliadin-induced expression of MICA on gut epithelium. </p><p>Shan et al. (2002) identified a 33-mer peptide that is glutamine and proline rich that has several characteristics suggesting it is the primary initiator of inflammatory response to gluten in celiac sprue patients. In vitro and in vivo studies in rats and humans demonstrated that this 33-mer is stable toward breakdown by all gastric, pancreatic, and intestinal brushborder membrane proteases. The peptide reacted with tissue transglutaminase, a major autoantigen in celiac sprue, with substantially greater selectivity than natural substrates of this extracellular enzyme. The 33-mer was a potent inducer of gut-derived human T cell lines from 14 of 14 celiac sprue patients. Homologs of this peptide were found in all food grains that are toxic to celiac sprue patients but were absent from all nontoxic food grains. The peptide could be detoxified in in vitro and in vivo assays by exposure to a bacterial prolyl endopeptidase, suggesting a strategy for oral peptidase supplement therapy for celiac sprue. </p><p>Hovhannisyan et al. (2008) showed that the HLA-DQ8 beta-57 polymorphism (lacking the canonical aspartic acid residue at position 57) promotes the recruitment of T cell receptors bearing a negative signature charge in the complementary determining region 3-beta (CDR3-beta) during the response against native gluten peptides presented by HLA-DQ8 in celiac disease. These T cells showed a cross-reactive and heteroclitic (stronger) response to deamidated gluten peptides. Furthermore, gluten peptide deamidation extended the T cell receptor repertoire by relieving the requirement for a charged residue in CDR3-beta. Thus, Hovhannisyan et al. (2008) concluded that the lack of a negative charge at position beta-57 in MHC class II was met by negatively charged residues in the T cell receptor or in the peptide, the combination of which might explain the role of HLA-DQ8 in amplifying the T cell response against dietary gluten. </p><p>In mice, DePaolo et al. (2011) found that in conjunction with IL15, a cytokine greatly upregulated in the gut of celiac disease patients, retinoic acid rapidly activates dendritic cells to induce JNK (also known as MAPK8, 601158) phosphorylation and release the proinflammatory cytokines IL12p70 (see 161561) and IL23 (see 605580). As a result, in a stressed intestinal environment, retinoic acid acted as an adjuvant that promoted rather then prevented inflammatory cellular and humoral responses to fed antigen. DePaolo et al. (2011) concluded that their data showed an unexpected role for retinoic acid and IL15 in the abrogation of tolerance to dietary antigens. </p><p>Gruper et al. (2023) investigated the mechanism of autoimmune amelogenesis imperfecta, which affects individuals with autoimmune polyendocrine syndrome type I (APS1; 240300) and children affected with celiac disease. The vast majority (70 to 90%) of patients with APS1 develop IgA autoantibodies against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. Normally, AIRE expression in the thymus induces tolerance of ameloblast-specific protein. The lack of AIRE expression in APS1 and in AIRE-null mice results in a breakdown of central tolerance, and subsequent generation of autobodies that interfere with enamel formation. In celiac disease the generation of enamel autoantibodies appears to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel. Twenty to 50% of children affected with celiac disease manifest amelogenesis imperfecta; enamel defects are rarely seen in patients with celiac disease with later onset. Only secondary teeth are affected. Gruper et al. (2023) showed that patients with celiac disease have higher levels of IgA autoantibodies against the enamel proteins LAMB3 (150310), ACPT (606362), KLK4 (603767), AMELX (300391), FAM20A (611062), and ENAM (606585) compared with control individuals without celiac disease. TGM2 (190196) and LAMB3 are dental and intestinal antigens, and kappa-casein (CSN3; 601695) is a dairy-based antigen. All 3 induce antibodies in celiac disease that interfere with enamel formation. The severity of the amelogenesis imperfecta relates to the duration of exposure and severity to autoantibodies. </p>
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<strong>Inheritance</strong>
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<p>Celiac disease has a strong heritable component, although the inheritance is complex and multifactorial (summary by Monsuur et al., 2005). </p><p>MacDonald et al. (1965) suggested that the mechanism of inheritance is autosomal dominant with incomplete penetrance. Frezal and Rey (1970) reviewed the subject and concluded that mendelism is unlikely. Familial aggregation was undoubted, however. Of 3 pairs of carefully studied identical twins, only one pair was concordantly affected. The authors thought this made a single gene hypothesis unlikely, especially in view of the invariable anatomic relapse on reexposure to gluten, even without clinical or biochemical signs. </p><p>Robinson et al. (1971) concluded that celiac disease is multifactorial, the causative genetic component being polygenic and interacting with environmental factors. </p><p>David and Ajdukiewicz (1975) found that 13 of 141 cases (9%) of overt, biopsy-proven celiac disease had a definitely affected relative. Greenberg et al. (1982) presented additional data supporting the hypothesis that GSE results from the interaction of 2 loci: one linked to HLA and associated with recessive inheritance and the other a non-HLA-linked GSE-associated B-cell alloantigen also exhibiting recessive inheritance ('a recessive-recessive 2-locus model'). Greenberg and Lange (1982) rejected a dominant-recessive 2-locus model, but could not reject a double recessive model. Furthermore, they concluded that affected sib pair HLA data are inconsistent with single-locus dominant or recessive models with environmentally-caused reduced penetrance. </p><p>Weiss et al. (1983) found antigliadin antibody in GSE patients on a gluten-free diet only when they had the IgG immunoglobulin heavy chain allotype marker G2m(n). Antibody occurred in these persons regardless of whether HLA-B8 and/or HLA-DR3 antigen was present. </p><p>Analyzing published pedigrees, Tiwari et al. (1984) concluded that a gene 'with a frequency of 0.022, which is nearly recessive on the penetrance scale,' is responsible; that less than one-eighth of DR3 and DR7 haplotypes carry a determinant for celiac disease and that the determinant is linked to HLA. </p><p>Simoons (1981) observed a negative correlation between the frequency of antigen HLA-B8 and the length of time that wheat farming has been practiced in various parts of Europe. He put forward the hypothesis that this gene was selected against because of associated gluten intolerance (celiac disease).</p><p>Lin et al. (1985) stated that 'available evidence is most consistent with the hypothesis that the genetic predisposition to GSE is due to disease alleles at two unlinked loci.' One of the loci is linked to HLA. They reviewed the high concordance in monozygotic twins. The concordance for celiac disease in monozygotic twins has been estimated to be 71%. However, Salazar de Sousa et al. (1987) reported an instance of identical twins in whom the diagnosis of celiac disease was made in one at age 2.5 years and in the other at age 10.5 years, intestinal biopsy at age 3 years and 10 months having been normal. Salazar de Sousa et al. (1987) questioned whether discordance for celiac disease is ever permanent. </p><p>Susceptibility to celiac disease has a strong genetic component, demonstrated by a high prevalence rate (10%) among first-degree relatives and a high concordance rate (approximately 70%) among monozygotic twins (Sollid and Thorsby, 1993). </p><p>Howell et al. (1988) described a RFLP haplotype of the HLA-D region that is associated with celiac disease. Mannion et al. (1993) reported that 1 extended MHC haplotype accounted for 50% of haplotypes from celiac patients and only 27% of MHC haplotypes in 'nontransmitting' parents. </p><p>Genes outside the HLA region are likely to be involved in the genetic susceptibility as the concordance rate among monozygotic twins (70%) differs from that among HLA-identical sibs (30%) (Strober, 1992).</p><p>Dermatitis herpetiformis (601230) is frequently associated with duodenojejunal villous atrophy similar to that found in gluten-sensitive enteropathy (Brow et al., 1971). Like celiac disease, dermatitis herpetiformis shows a high frequency of HLA-A8 (Falchuk et al., 1972; Katz et al., 1972). DH and CD are gluten-sensitive diseases that have a common immunogenetic background; both disorders are associated with HLA alleles DQA1*0501 and B1*0201. Reunala (1996) reported on the familial incidence of DH in a prospective study started in 1969 in Finland. A total of 1,018 patients with DH were diagnosed and questioned for positive family histories. Of the 999 unrelated DH patients, 105 (10.5%) had 1 or several affected first-degree relatives. Disease in the relatives was either DH (4.4%) or CD (6.1%). Analysis of the 105 families showed that 13.6% of parents, 18.7% of sibs, and 14% of children were affected, a segregation pattern that fitted well to a mendelian dominant mode of inheritance. Gender may also be important because the first-degree relatives affected with DH were more often females and those affected with CD twice as often females as males. </p><p>Based on a sib recurrence risk of 10% and a population prevalence of 0.0033, the overall sib relative risk for celiac disease is 30. Bevan et al. (1999) examined haplotype-sharing probabilities across the MHC region in 55 families with celiac disease. Based on these probabilities, they calculated the sib relative risk of celiac disease associated with the MHC region to be 3.7. They combined this result with published data and estimated the sib relative risk associated with the MHC region to be 3.3. Under the assumption of a multiplicative interaction between HLA- and non-HLA-linked loci, Bevan et al. (1999) concluded that MHC genes contribute no more than 40% of the sib familial risk of celiac disease and that non-HLA-linked genes are likely to be the stronger determinant of celiac disease susceptibility. </p><p>Hervonen et al. (2000) studied 6 monozygotic twin pairs found among 1,292 prospectively collected patients with dermatitis herpetiformis in Finland. Three of the 6 twin pairs were concordant for dermatitis herpetiformis. Two other twin pairs were partially discordant: 1 of each pair had dermatitis herpetiformis and celiac disease, whereas the other had only celiac disease. Only 1 pair was found to be discordant for gluten sensitivity. All the pairs had typical risk alleles for gluten sensitivity, i.e., either HLA-DQ2 or -DQ8. These results demonstrated that the genetic component in gluten sensitivity as broadly defined is very strong (5/6 concordant). Hervonen et al. (2000) concluded that genetically identical individuals can have clearly distinguished phenotypes, either dermatitis herpetiformis or celiac disease, suggesting that environmental factors determine the exact phenotype of this multifactorial disease. </p><p>Bourgain et al. (2000) developed a method, the maximum identity length contrast (MILC) statistic, for the study of multifactorial diseases in isolated populations. The major characteristic of MILC is that, unlike most previously proposed methods for the study of complex diseases in founder populations, it does not make the assumption that all carriers of a susceptibility allele inherited it from a single common ancestor. Although this assumption may be true for the rare mutations involved in monogenic diseases, it is likely to be irrelevant for many genetic risk factors involved in complex diseases. The MILC method relies on the fact that, even though not all affected individuals carrying the susceptibility allele had received it from the same single ancestor, they have a stronger kinship coefficient at the disease locus than do unaffected individuals. Affected individuals are thus more likely to share common haplotypes in the vicinity of the disease locus than are control subjects. The MILC approach compares the identity length of parental haplotypes that are transmitted to affected offspring with the identity length of those that are not transmitted to affected offspring. Bourgain et al. (2001) used the MILC approach to analyze the role of HLA in celiac disease and showed that the effect of HLA may be detected with the MILC approach by typing only 11 affected individuals who were part of a single large Finnish pedigree. </p><p>Greco et al. (2002) stated that the genetic contribution to celiac disease had previously been inferred from case series and anecdotal case reports of concordant twin pairs. By crossmatching a registry of individuals with celiac disease with a national twin registry, Greco et al. (2002) were able to study 47 twin pairs with at least 1 affected twin. Zygosity was confirmed in all same-sex cases using standard techniques. Each individual was typed for HLA class II DRB1 (142857) and DQB1. Concordance rates for MZ twins were higher than for DZ twins (0.86 vs 0.20). A logistic regression model, corrected for age, sex, number of shared HLA haplotypes, and zygosity showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 conferred to the non-index twin a relative risk of contracting the disease of 3.3 and 1.4, respectively. The relative risk of being concordant for celiac disease for the non-index twin of an MZ twin pair was 17 (95% CI, 2.1-134), independent of the DQ at-risk genotype. This study provided evidence for a very strong genetic component to celiac disease, only partially due to HLA genotype. </p><p>Naluai et al. (2008) reviewed the genetics of celiac disease with an emphasis on the non-HLA genetic component, and discussed the difficulties of searching for susceptibility genes in disorders with complex inheritance patterns. </p>
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<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>CELIAC1 on Chromosome 6p21.3</em></strong></p><p>
Liu et al. (2002) performed a genomewide scan of CD in 60 Finnish families and identified strong evidence for linkage to the HLA region at chromosome 6p21.3. The role of HLA-DQ was studied in more detail by analysis of DQB1 alleles (604305) in all 98 families. All but 1 patient carried 1 or 2 HLA-DQ risk alleles, and 65% of HLA-DQ2 carriers were affected. </p><p>Using pooled data from the European Genetics Cluster on Coeliac Disease, Babron et al. (2003) performed meta- and megaanalyses of genotype data from 2,025 individuals, 1,056 of whom had celiac disease. They confirmed the association to the HLA region. </p><p><strong><em>CELIAC2 on Chromosome 5q31-q33</em></strong></p><p>
See CELIAC2 (609754) for a celiac disease susceptibility locus on chromosome 5q31-q33.</p><p><strong><em>CELIAC3 on Chromosome 2q33</em></strong></p><p>
See CELIAC3 (609755) for a celiac disease susceptibility locus on chromosome 2q33. This locus is associated with variation in the CTLA4 gene (123890).</p><p><strong><em>CELIAC4 on Chromosome 19p13.1</em></strong></p><p>
See CELIAC4 (609753) for a celiac disease susceptibility locus on chromosome 19p13.1. This locus is associated with mutation in the MYO9B gene (602129).</p><p><strong><em>CELIAC5 on Chromosome 15q11-q13</em></strong></p><p>
See CELIAC5 (607202) for a celiac disease susceptibility locus on chromosome 15q11-q13.</p><p><strong><em>CELIAC6 on Chromosome 4q27</em></strong></p><p>
See CELIAC6 (611598) for a celiac disease susceptibility locus on chromosome 4q27 within a linkage disequilibrium (LD) block encompassing the KIAA1109 (611565), TENR (ADAD1), IL2 (147680), and IL21 (605384) genes.</p><p><strong><em>CELIAC7 on Chromosome 1q31</em></strong></p><p>
See CELIAC7 (612005) for a celiac disease susceptibility locus on chromosome 1q31. This locus may be associated with variation in the RGS1 gene (600323).</p><p><strong><em>CELIAC8 on Chromosome 2q11-q12</em></strong></p><p>
See CELIAC8 (612006) for a celiac disease susceptibility locus on chromosome 2q11-q12 within a linkage disequilibrium block encompassing the IL18RAP (604509) and IL18R1 (604494) genes.</p><p><strong><em>CELIAC9 on Chromosome 3p21</em></strong></p><p>
See CELIAC9 (612007) for a celiac disease susceptibility locus on chromosome 3p21 within a linkage disequilibrium block encompassing a cluster of chemokine receptor genes.</p><p><strong><em>CELIAC10 on Chromosome 3q25-q26</em></strong></p><p>
See CELIAC10 (612008) for a celiac disease susceptibility locus on chromosome 3q25-q26 within a 70-kD linkage disequilibrium block near the IL12A gene (161560).</p><p><strong><em>CELIAC11 on Chromosome 3q28</em></strong></p><p>
See CELIAC11 (612009) for a celiac disease susceptibility locus on chromosome 3q28 within a linkage disequilibrium block near the LPP gene (600700).</p><p><strong><em>CELIAC12 on Chromosome 6q25</em></strong></p><p>
See CELIAC12 (612010) for a celiac disease susceptibility locus on chromosome 6q25 within a linkage disequilibrium block encompassing the TAGAP gene (609667).</p><p><strong><em>CELIAC13 on Chromosome 12q24</em></strong></p><p>
See CELIAC13 (612011) for a celiac disease susceptibility locus on chromosome 12q24. This locus may be associated with variation in the SH2B3 gene (605093).</p><p><strong><em>Genomewide Linkage and Association Studies</em></strong></p><p>
Zhong et al. (1996) presented evidence for linkage of at least 1 non-HLA locus to celiac disease. They commented that the HLA component of celiac disease (a specific HLA-DQ heterodimer) is largely established and relatively uncomplicated; furthermore, the environmental component (gluten and related grain storage proteins in the diet) is well understood. Previous work had suggested that at least 1 non-HLA locus might be a stronger genetic factor than HLA, and that it may operate as an autosomal recessive. Zhong et al. (1996) used a 3-step genome screening protocol to identify loci that contribute to celiac disease in the western counties of Ireland, a region with the highest prevalence of celiac disease in the world (Mylotte et al., 1973). The most significant of several possible non-HLA loci that they found was on chromosome 6p about 30 cM telomeric from HLA. It had a multipoint maximum lod score of 4.66 (compared with 4.44 for HLA-DQ) and appeared to have a recessive mode of inheritance. </p><p>In linkage analysis of 28 celiac disease families, Houlston et al. (1997) could find no support for a predisposition locus telomeric to HLA on chromosome 6p. There also was no significant evidence in favor of linkage to 8 other chromosomal regions that had previously been suspect. There was, however, excess sharing of alleles close to D15S642. The maximum nonparametric linkage score was 1.99 (P = 0.03). Although the evidence for linkage of celiac disease to 15q26 was not strong, the well established association between celiac disease and insulin-dependent diabetes mellitus, together with the mapping of an IDDM susceptibility locus (IDDM3; 600318) to 15q26, provided indirect support for this as a candidate locus conferring susceptibility to celiac disease in some families. </p><p>In an independent study, Brett et al. (1998) were also unable to replicate the results of Zhong et al. (1996). They granted that the difficulties involved in analyzing complex diseases mean that one cannot be certain that the regions pointed to by Zhong et al. (1996) did not, in fact, harbor susceptibility loci, at least in some families. </p><p>King et al. (2001) reviewed various studies on linkage to non-HLA loci for celiac disease. Their own genomewide linkage study (King et al., 2000) genotyped 16 highly informative pedigrees for 400 microsatellite markers spanning the entire genome with an average marker spacing of 10 cM. They identified 17 potentially linked regions with lod scores significant at p less than 0.05. In a later study, King et al. (2001) investigated these 17 regions in a larger set of pedigrees using more finely spaced markers. The study involved 34 additional highly informative pedigrees to a total of 50 multiply affected families. By 2-point and 3-point linkage analysis using classic and model-free methods, they identified 5 potential susceptibility loci with heterogeneity scores greater than 2.0. The most significant was a heterogeneity lod of 2.6 at D11S914 on 11p11. This marker mapped to a position implicated in 1 of the 2 previous genome scans; taken together, these results provided strong support for the existence of a susceptibility locus in that region. </p><p>Holopainen et al. (2001) studied 102 Finnish families with affected sib pairs who had gluten sensitivity and found evidence of linkage to 11q (maximum lod score, 1.37) but no linkage to 5q. Heterogeneity between subgroups was suggested: families with only intestinal disease showed linkage mainly to 2q33, whereas families with dermatitis herpetiformis showed linkage to 11q and 5q, but not to 2q33. Linkage in all 3 non-HLA loci was strongest in families with predominantly male patients; HLA-DQ2 conferred much stronger susceptibility to females than males. Holopainen et al. (2001) noted that possible linkage heterogeneity suggested that there are genetic differences between intestinal and skin manifestations and for the gender-dependent effect of HLA-DQ2. </p><p>Naluai et al. (2001) performed a genomewide scan including 398 microsatellite markers on 106 Swedish and Norwegian families with at least 2 affected sibs with CD. By nonparametric linkage (NPL) analysis, 8 chromosomal regions besides the HLA-region on 6p were found to have nominal P values below 0.05. The regions were 2q11-q13, 3p24, 5q31-q33, 9p21, 11p15, 11q23-q25, 17q22, and Xp11, among which 5q and 11q both had been suggested in previous linkage studies. The finding on chromosome X was interesting due to the excess of affected females in CD. </p><p>In 60 Finnish families, Liu et al. (2002) identified suggestive evidence for linkage at 6 non-HLA chromosome regions. They analyzed linkage for 3 of these regions in an additional 38 families and found that the chromosome 4p15 region gave a lod score of 3.25 on multipoint analysis with dense markers. </p><p>To identify non-HLA loci for CD, Neuhausen et al. (2002) performed a genomewide search on 62 families with at least 2 cases of CD. Accounting for multiple testing, they found genomewide intermediate linkage evidence at 18q (hlod = 3.6) and at 3p (hlod = 3.2), and suggested linkage at 5p (hlod = 2.7). They did not find a good consensus between 2-point and multipoint evidence, and after genotyping with new markers in the regions stated, the results were inconclusive. </p><p>To identify risk variants contributing to celiac disease susceptibility other than those in the HLA-DQ region, Hunt et al. (2008) genotyped 1,020 of the most strongly associated non-HLA markers identified by van Heel et al. (2007) in an additional 1,643 cases of celiac disease and 3,406 controls. The most significant SNP outside the HLA-DQ region and the previously identified IL2/IL21 region (see CELIAC6, 611598) was rs2816316 (p overall = 2.58 x 10(-11)), located on chromosome 1q31 (see CELIAC7, 612005). Six additional regions showed significant association (see CELIAC8, 612006; CELIAC9, 612007; CELIAC10, 612008; CELIAC11, 612009; CELIAC12, 612010; and CELIAC13, 612011). </p><p>In an Italian cohort involving 538 patients with celiac disease and 593 healthy controls, Romanos et al. (2009) analyzed 9 SNPs tagging 8 celiac disease loci previously reported by Hunt et al. (2008) and confirmed association with 6 of them, but found no association with the CELIAC8 locus on chromosome 3p21 or CELIAC9 locus on chromosome 2q11-q12. The authors noted that this was the first celiac disease association study in a southern European cohort, and suggested that there may be population differences across Europe regarding the loci contributing to celiac disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>GSE in Irish setter dogs was proposed by Batt et al. (1984, 1987) as an animal model for human celiac disease. As in the human, the gluten fraction of wheat induces various degrees of villus atrophy, and withdrawal of wheat from the diet leads to recovery of the normal villus structure and a remission of clinical signs. Polvi et al. (1998) studied the canine major histocompatibility complex (MHC) in 2 large families of gluten-sensitive Irish setter dogs. They could detect no linkage between GSE and the MHC class II gene cluster. </p><p>Abadie et al. (2020) described a mouse model that reproduces the overexpression of IL15 (600554) in the gut epithelium and lamina propria that is characteristic of active celiac disease, expresses the predisposing HLA-DQ8 molecule (see 146880), and develops villous atrophy after ingestion of gluten. Overexpression of IL15 in both the epithelium and the lamina propria was required for the development of villous atrophy, which demonstrated the location-dependent central role of IL15 in the pathogenesis of celiac disease. In addition, Abadie et al. (2020) showed that CD4+ T cells and HLA-DQ8 have a crucial role in the licensing of cytotoxic T cells to mediate intestinal epithelial cell lysis. Abadie et al. (2020) also demonstrated a role for the cytokine interferon-gamma (IFNG; 147570) and the enzyme transglutaminase-2 (TGM2; 190196) in tissue destruction. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bjarnason et al. (1983); Gardiner et al. (1973); Gebhard et al.
(1974); Greenberg and Rotter (1981); Pena et al. (1978); Sagaro and
Jimenez (1981); Savilahti et al. (1983); Stokes et al. (1976);
Strober et al. (1975); Weinstein et al. (1971)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
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<div>
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[Full Text: https://doi.org/10.1038/ng1196-329]
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Ada Hamosh - updated : 01/23/2024<br>Ada Hamosh - updated : 09/24/2020<br>Ada Hamosh - updated : 6/14/2011<br>Paul J. Converse - updated : 8/3/2010<br>Marla J. F. O&#x27;Neill - updated : 7/15/2010<br>Marla J. F. O&#x27;Neill - updated : 5/14/2009<br>Ada Hamosh - updated : 1/9/2009<br>Marla J. F. O&#x27;Neill - updated : 12/18/2008<br>Ada Hamosh - updated : 4/23/2008<br>Paul J. Converse - updated : 5/3/2006<br>Paul J. Converse - updated : 4/11/2006<br>Marla J. F. O&#x27;Neill - updated : 3/30/2006<br>Paul J. Converse - updated : 2/10/2006<br>Paul J. Converse - updated : 1/13/2006<br>Victor A. McKusick - updated : 12/1/2005<br>Marla J. F. O&#x27;Neill - updated : 10/18/2004<br>Marla J. F. O&#x27;Neill - updated : 5/13/2004<br>Victor A. McKusick - updated : 4/28/2004<br>Natalie E. Krasikov - updated : 2/19/2004<br>Victor A. McKusick - updated : 7/1/2003<br>Victor A. McKusick - updated : 3/13/2003<br>Ada Hamosh - updated : 11/13/2002<br>Victor A. McKusick - updated : 9/9/2002<br>Michael B. Petersen - updated : 8/20/2002<br>Victor A. McKusick - updated : 8/8/2002<br>Paul Brennan - updated : 5/14/2002<br>Victor A. McKusick - updated : 3/7/2002<br>Victor A. McKusick - updated : 1/24/2002<br>Victor A. McKusick - updated : 1/22/2002<br>Victor A. McKusick - updated : 12/14/2001<br>Gary A. Bellus - updated : 3/27/2001<br>Victor A. McKusick - updated : 1/24/2001<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 3/22/1999<br>Paul Brennan - updated : 12/15/1998<br>Victor A. McKusick - updated : 9/8/1998<br>Victor A. McKusick - updated : 5/7/1998<br>Victor A. McKusick - updated : 9/4/1997<br>Victor A. McKusick - updated : 8/22/1997
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Victor A. McKusick : 6/3/1986
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