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Entry
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- #167800 - PANCREATITIS, HEREDITARY; PCTT
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- OMIM
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<p>
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<span class="h4">#167800</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/167800"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</span>
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<div><a href="https://clinicaltrials.gov/search?cond=PANCREATITIS, HEREDITARY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=937&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK190101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Pancreatitis Overview</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK84399/" title="PRSS1-Related Hereditary Pancreatitis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">PRSS1-Related Hereditary P…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/3373" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/hereditary-pancreatitis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=167800[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=676" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:4989" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/167800" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001403/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:4989" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 235956004, 68072000<br />
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<strong>ORPHA:</strong> 676<br />
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<strong>DO:</strong> 4989<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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167800
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PANCREATITIS, HEREDITARY; PCTT
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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HPC<br />
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HP<br />
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PANCREATITIS, CHRONIC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED
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<div>
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<span class="h4 mim-font">
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PANCREATITIS, CALCIFIC, INCLUDED<br />
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PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED
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</span>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/176?start=-3&limit=10&highlight=176">
|
|
1p36.21
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Pancreatitis, chronic, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167800"> 167800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CTRC
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601405"> 601405 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/636?start=-3&limit=10&highlight=636">
|
|
5q32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pancreatitis, hereditary
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167800"> 167800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SPINK1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167790"> 167790 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/609?start=-3&limit=10&highlight=609">
|
|
7q31.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Pancreatitis, hereditary}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167800"> 167800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CFTR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602421"> 602421 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/754?start=-3&limit=10&highlight=754">
|
|
7q34
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pancreatitis, hereditary
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167800"> 167800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PRSS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/276000"> 276000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/755?start=-3&limit=10&highlight=755">
|
|
7q34
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Pancreatitis, chronic, protection against}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167800"> 167800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PRSS2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601564"> 601564 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/167800" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/167800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/167800" 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">
|
|
|
|
|
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|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GI </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br /> - Severe abdominal pain attacks<br /> - Pancreatic insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37992001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37992001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47367009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47367009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030293</a>, <a href="https://bioportal.bioontology.org/search?q=C0267963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001738</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 /> - Pancreatic calcification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842406</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005213</a>]</span><br /> - Pancreatic pseudocysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111374002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111374002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005206</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Vascular </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Portal or splenic vein thrombosis<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Metabolic </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Pulmonary </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemorrhagic pleural effusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307202004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307202004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0585110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0585110</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Misc </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fever with attacks<br /> - Emotional upset, alcohol or high fat intake produce attacks<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urinary excretion of lysine and cystine<br /> - Marked elevation of serum amylase with attacks<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<p>A number sign (#) is used with this entry because of evidence that chronic pancreatitis can be caused by mutation in the cationic trypsinogen gene PRSS1 (<a href="/entry/276000">276000</a>) and the SPINK1 gene (<a href="/entry/167790">167790</a>). Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR; <a href="/entry/602421">602421</a>). A missense variant in the PRSS2 gene (<a href="/entry/601564#0001">601564.0001</a>) confers protection against chronic pancreatitis. Variants in the chymotrypsin C gene (<a href="/entry/601405">601405</a>) that diminish activity or secretion are associated with chronic pancreatitis.</p>
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<p><a href="#18" class="mim-tip-reference" title="Gross, J. B., Gambill, E. E., Ulrich, J. A. <strong>Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features.</strong> Am. J. Med. 33: 358-364, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13902224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13902224</a>] [<a href="https://doi.org/10.1016/0002-9343(62)90232-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13902224">Gross et al. (1962)</a> described a kindred with affected persons in 4 generations. Four other families had been reported from the Mayo Clinic, including the first reported example by <a href="#9" class="mim-tip-reference" title="Comfort, M. W., Steinberg, A. G. <strong>Pedigree of a family with hereditary chronic relapsing pancreatitis.</strong> Gastroenterology 21: 54-63, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14926813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14926813</a>]" pmid="14926813">Comfort and Steinberg (1952)</a>. A puzzling feature was the urinary excretion of lysine and cystine by about half the members of affected kindreds (with or without pancreatitis). Cystine urinary stones had not been observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13902224+14926813" 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="#43" class="mim-tip-reference" title="Singer, M., Cohen, F. B. <strong>Hereditary chronic relapsing pancreatitis.</strong> J. Newark Beth Israel Hosp. 21: 121-126, 1966."None>Singer and Cohen (1966)</a> reported onset at about age 20 in a man whose younger sister and a cousin were similarly affected. The attacks were characterized by severe abdominal pains, fever, and marked elevation of serum amylase. Except for the last symptom, differentiation from familial Mediterranean fever (<a href="/entry/249100">249100</a>), also called 'familial paroxysmal peritonitis,' might be difficult. The aminoaciduria was almost certainly an incidental finding since family members without pancreatitis showed it and because other families with pancreatitis have not had this feature (<a href="#12" class="mim-tip-reference" title="Davidson, P., Costanza, D., Swieconek, J. A., Harris, J. B. <strong>Hereditary pancreatitis: a kindred without gross aminoaciduria.</strong> Ann. Intern. Med. 68: 88-96, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635333</a>] [<a href="https://doi.org/10.7326/0003-4819-68-1-88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5635333">Davidson et al., 1968</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5635333" 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="#32" class="mim-tip-reference" title="Robechek, P. J. <strong>Hereditary chronic relapsing pancreatitis: a clue to pancreatitis in general?</strong> Am. J. Surg. 113: 819-824, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023921</a>] [<a href="https://doi.org/10.1016/0002-9610(67)90354-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6023921">Robechek (1967)</a> observed a family in which 5 individuals had hereditary chronic relapsing pancreatitis, 3 of whom obtained symptomatic relief after sphincterotomy or section of the hypertrophied sphincter of Oddi. <a href="#32" class="mim-tip-reference" title="Robechek, P. J. <strong>Hereditary chronic relapsing pancreatitis: a clue to pancreatitis in general?</strong> Am. J. Surg. 113: 819-824, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023921</a>] [<a href="https://doi.org/10.1016/0002-9610(67)90354-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6023921">Robechek (1967)</a> suggested that hypertrophy of the sphincter of Oddi together with a common ampulla of the biliary and pancreatic ducts may be the inherited factor. <a href="#26" class="mim-tip-reference" title="Mann, T. P., Rubin, J. <strong>Familial pancreatic exocrine dysfunction with pancreatic calcification.</strong> Proc. Roy. Soc. Med. 62: 326, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5811932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5811932</a>]" pmid="5811932">Mann and Rubin (1969)</a> described a 17-month-old boy with steatorrhea whose 26-year-old brother and mother had steatorrhea and pancreatic calcification. Hereditary pancreatitis occurs with hyperparathyroidism in the multiple endocrine adenomatosis syndrome (<a href="/entry/131100">131100</a>). <a href="#28" class="mim-tip-reference" title="McElroy, R., Christiansen, P. A. <strong>Hereditary pancreatitis in a kinship associated with portal vein thrombosis.</strong> Am. J. Med. 52: 228-241, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5062005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5062005</a>] [<a href="https://doi.org/10.1016/0002-9343(72)90072-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5062005">McElroy and Christiansen (1972)</a> described a family in which 10 persons had definite pancreatitis and 16 others may have been affected. They pointed out that thrombosis in the portal or splenic vein occurs with significant frequency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6023921+5062005+5811932" 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="Sibert, J. R. <strong>Hereditary pancreatitis in England and Wales.</strong> J. Med. Genet. 15: 189-201, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/671483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">671483</a>] [<a href="https://doi.org/10.1136/jmg.15.3.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="671483">Sibert (1978)</a> identified 72 patients in 7 families in England and Wales. Penetrance was about 80%. The mean age of onset was 13.6 years. There were 2 peaks, one at 5 years and one at 17 years. The second peak was thought to represent genetically susceptible persons with symptoms precipitated by alcohol, rather than genetic heterogeneity. In 5 of the families, members with both childhood and adult onset were identified. In most cases the attacks were of nuisance value only. Only 4 of the 72 patients had life-threatening disease. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%) and hemorrhagic pleural effusion were observed. Portal vein thrombosis occurred in 2 and was suspected in 3 others. Patients seemed to improve later in life. Attacks were precipitated by emotional upset, alcohol, or high fat intake. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=671483" 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="Sarles, H., De Caro, A., Multigner, L., Martin, E. <strong>Giant pancreatic stones in teetotal women due to absence of the 'stone protein'? (Letter)</strong> Lancet 320: 714-715, 1982. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6126647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6126647</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)90734-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6126647">Sarles et al. (1982)</a> pointed out that chronic calcifying pancreatitis is characterized by pancreatic stones in the ducts and acini. They had shown that 'stone protein' (see <a href="/entry/167770">167770</a>) inhibits in vitro calcium carbonate nucleation and decreases the rate of crystal growth, suggesting that it acts as a physiologic inhibitor of spontaneous calcium carbonate formation in supersaturated pancreatic juice. (A similar function has been suggested for statherin in human saliva (<a href="#39" class="mim-tip-reference" title="Schlesinger, D. H., Hay, D. I. <strong>Complete covalent structure of statherin, a tyrosine-rich acidic peptide which inhibits calcium phosphate precipitation from human parotid saliva.</strong> J. Biol. Chem. 252: 1689-1695, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838735</a>]" pmid="838735">Schlesinger and Hay, 1977</a>).) <a href="#37" class="mim-tip-reference" title="Sarles, H., De Caro, A., Multigner, L., Martin, E. <strong>Giant pancreatic stones in teetotal women due to absence of the 'stone protein'? (Letter)</strong> Lancet 320: 714-715, 1982. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6126647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6126647</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)90734-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6126647">Sarles et al. (1982)</a> found absence of stone protein in the pancreatic stones in a case of calcific pancreatitis and interpreted this as indicating that the protein was not secreted into the pancreatic juice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6126647+838735" 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="#15" class="mim-tip-reference" title="Freud, E., Barak, R., Ziv, N., Leiser, A., Dinari, G., Mor, C., Zer, M. <strong>Familial chronic recurrent pancreatitis in identical twins: case report and review of the literature.</strong> Arch. Surg. 127: 1125-1128, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1514916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1514916</a>] [<a href="https://doi.org/10.1001/archsurg.1992.01420090133020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1514916">Freud et al. (1992)</a> described the cases of monozygotic twin girls of Ashkenazi origin who were admitted to hospital at the age of 9 years because of recurrent attacks of pancreatitis. <a href="#10" class="mim-tip-reference" title="Dalton-Clarke, H. J., Lewis, M. H., Levi, A. J., Blumgart, L. H. <strong>Familial chronic calcific pancreatitis: a family study.</strong> Brit. J. Surg. 72: 307-308, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3986484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3986484</a>] [<a href="https://doi.org/10.1002/bjs.1800720421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3986484">Dalton-Clarke et al. (1985)</a> found 10 definite and 4 suspected cases of pancreatitis in an English family. <a href="#23" class="mim-tip-reference" title="Lewis, M. P. N., Gazet, J.-C. <strong>Hereditary calcific pancreatitis in an English family.</strong> Brit. J. Surg. 80: 487-488, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8495318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8495318</a>] [<a href="https://doi.org/10.1002/bjs.1800800427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8495318">Lewis and Gazet (1993)</a> reported pancreatitis in members of 4 successive generations of a second English family. A male in each of the first generations had a combination of calcific pancreatitis and pancreatic carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3986484+8495318+1514916" 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="Rumenapf, G., Kamm, M., Rupprecht, H., Scheele, J. <strong>Surgical management of hereditary pancreatitis: report of a case and presentation of a new family. (Letter)</strong> Pancreas 9: 398-399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8022767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8022767</a>] [<a href="https://doi.org/10.1097/00006676-199405000-00022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8022767">Rumenapf et al. (1994)</a> stated that more than 50 families of hereditary pancreatitis had been reported since the first description by <a href="#9" class="mim-tip-reference" title="Comfort, M. W., Steinberg, A. G. <strong>Pedigree of a family with hereditary chronic relapsing pancreatitis.</strong> Gastroenterology 21: 54-63, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14926813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14926813</a>]" pmid="14926813">Comfort and Steinberg (1952)</a>. They reported on the case of a 26-year-old man from a family in which 6 of 34 members had confirmed pancreatitis and an additional 3 members had suspected pancreatitis. A great uncle had died of pancreatic cancer after suffering from pancreatitis for years. Numerous pancreatic calculi were removed surgically, and a side-to-side pancreaticojejunostomy with a Roux-Y loop was performed. <a href="#35" class="mim-tip-reference" title="Rumenapf, G., Kamm, M., Rupprecht, H., Scheele, J. <strong>Surgical management of hereditary pancreatitis: report of a case and presentation of a new family. (Letter)</strong> Pancreas 9: 398-399, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8022767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8022767</a>] [<a href="https://doi.org/10.1097/00006676-199405000-00022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8022767">Rumenapf et al. (1994)</a> suggested that surgery may be superior to endoscopic drainage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14926813+8022767" 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="#36" class="mim-tip-reference" title="Sarles, H., Camarena, J., Bernard, J. P., Sahel, J., Laugier, R. <strong>Two forms of hereditary chronic pancreatitis.</strong> Pancreas 12: 138-141, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8720659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8720659</a>] [<a href="https://doi.org/10.1097/00006676-199603000-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8720659">Sarles et al. (1996)</a> reported 11 families with hereditary pancreatitis characterized by the presence of calculi in pancreatic ducts. The disorder in 1 family with 5 cases was classified as calcic lithiasis because the calculi were composed of more than 95% calcium salts. Protein lithiasis was present in the other 10 families, the calculi being composed of degraded amorphous residues of lithostathine (<a href="/entry/167770">167770</a>), the pancreatic secretory protein that inhibits salt crystallization. Average age at clinical onset of symptoms was 15 years. Clinical progression seemed to be less severe than that in alcoholic chronic pancreatitis (alcoholic calcic lithiasis). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8720659" 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="Lowenfels, A. B., Maisonneuve, P., DiMagno, E. P., Elitsur, Y., Gates, L. K., Jr., Perrault, J., Whitcomb, D. C., The International Hereditary Pancreatitis Study Group. <strong>Hereditary pancreatitis and the risk of pancreatic cancer.</strong> J. Nat. Cancer Inst. 89: 442-446, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9091646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9091646</a>] [<a href="https://doi.org/10.1093/jnci/89.6.442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9091646">Lowenfels et al. (1997)</a> assembled records on 246 patients (125 males and 121 females) thought to have hereditary pancreatitis. In 218 patients the diagnosis appeared to be highly probable and in 28 patients it was thought to be less certain. The mean age of onset of symptoms of pancreatitis was 13.9 +/- 12.2 years. Compared with an expected number of 0.150, 8 pancreatic adenocarcinomas developed during 8,531 person-years of follow-up. The mean age at diagnosis of pancreatic cancer was 56.9 +/- 11.2 years. Frequency of other tumors was not increased. Eight of 20 reported deaths in the cohort were from pancreatic cancer. Thirty members of the cohort had been tested and all were found to have a mutated copy of the trypsinogen gene. The estimated cumulative risk of pancreatic cancer to age 70 years in patients with hereditary pancreatitis approached 40%. For patients with a paternal inheritance pattern, the cumulative risk of pancreatic cancer was approximately 75%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9091646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Le Bodic, L., Bignon, J.-D., Raguenes, O., Mercier, B., Georgelin, T., Schnee, M., Soulard, F., Gagne, K., Bonneville, F., Muller, J.-Y., Bachner, L., Ferec, C. <strong>The hereditary pancreatitis gene maps to long arm of chromosome 7.</strong> Hum. Molec. Genet. 5: 549-554, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845851</a>] [<a href="https://doi.org/10.1093/hmg/5.4.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845851">Le Bodic et al. (1996)</a> analyzed the genomic segregation of highly informative microsatellite markers in a French family of 147 individuals, 47 of whom had hereditary pancreatitis. Linkage was found between HPC and 6 chromosome 7q markers. The marker D7S661 was linked to HPC with a lod score of 8.58 at theta = 0.077. Multipoint linkage analysis indicated that the HPC gene is most likely located in the region encompassed by markers D7S661 and D7S676 on 7q33-qter. <a href="#22" class="mim-tip-reference" title="Le Bodic, L., Bignon, J.-D., Raguenes, O., Mercier, B., Georgelin, T., Schnee, M., Soulard, F., Gagne, K., Bonneville, F., Muller, J.-Y., Bachner, L., Ferec, C. <strong>The hereditary pancreatitis gene maps to long arm of chromosome 7.</strong> Hum. Molec. Genet. 5: 549-554, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845851</a>] [<a href="https://doi.org/10.1093/hmg/5.4.549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845851">Le Bodic et al. (1996)</a> noted that the gene encoding carboxypeptidase A1 (CPA1; <a href="/entry/114850">114850</a>), which is a pancreatic exopeptidase, mapped centromeric to the HPC locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845851" 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="#47" class="mim-tip-reference" title="Whitcomb, D. C., Preston, R. A., Aston, C. E., Sossenheimer, M. J., Barua, P. S., Zhang, Y., Wong-Chong, A., White, G. J., Wood, P. G., Gates, L. K., Jr., Ulrich, C., Martin, S. P., Post, J. C., Ehrlich, G. D. <strong>A gene for hereditary pancreatitis maps to chromosome 7q35.</strong> Gastroenterology 110: 1975-1980, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8964426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8964426</a>] [<a href="https://doi.org/10.1053/gast.1996.v110.pm8964426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8964426">Whitcomb et al. (1996)</a> performed a genomewide linkage analysis on a family extensively affected with hereditary pancreatitis centered in eastern Kentucky and western Virginia. Using microsatellite markers, they established linkage between the hereditary pancreatitis phenotype and 7q. A maximal lod score of 4.73 at a recombination fraction of 0.0 was obtained with D7S684 located in the 7q35 region. Using 3 large HP families located in Virginia, West Virginia, and Tennessee, <a href="#30" class="mim-tip-reference" title="Pandya, A., Blanton, S. H., Landa, B., Javaheri, R., Melvin, E., Nance, W. E., Markello, T. <strong>Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.</strong> Genomics 38: 227-230, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954806</a>] [<a href="https://doi.org/10.1006/geno.1996.0620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954806">Pandya et al. (1996)</a> confirmed the tight linkage of HP to marker D7S684. They placed the HP locus within a 16-cM interval between markers D7S495 and D7S688. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8964426+8954806" 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>Several genes previously mapped to 7q were considered candidates for HPC because they were known to be expressed in the exocrine pancreas and to encode enzymes that could potentially activate digestive enzymes within the pancreas. The hypothesis that pancreatitis results from inappropriate activation of pancreatic proenzymes was first promulgated by <a href="#7" class="mim-tip-reference" title="Chiara, H. <strong>Ueber Selbstverdauung des menschlichen Pankreas.</strong> Ztschr. Heilkunde 17: 70-96, 1896."None>Chiara (1896)</a> and subsequently demonstrated to be an experimental model for pancreatitis (<a href="#44" class="mim-tip-reference" title="Steer, M. L., Meldolesi, J. <strong>The cell biology of experimental pancreatitis.</strong> New Eng. J. Med. 316: 144-150, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3540666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3540666</a>] [<a href="https://doi.org/10.1056/NEJM198701153160306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3540666">Steer and Meldolesi, 1987</a>). However, at least 8 trypsinogen genes are located on 7q35 between markers D7S495 and D7S498 and within the V and D-C segments of the complex T-cell receptor beta chain gene (see <a href="/entry/186930">186930</a>). Trypsinogen is an inactive proenzyme for trypsin, which becomes active when an 8-amino acid N-terminal peptide is removed. Of the 8 trypsinogen-like genes sequenced and identified within the TCRB locus by <a href="#34" class="mim-tip-reference" title="Rowen, L., Koop, B. F., Hood, L. <strong>The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.</strong> Science 272: 1755-1762, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8650574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8650574</a>] [<a href="https://doi.org/10.1126/science.272.5269.1755" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8650574">Rowen et al. (1996)</a>, 3 were determined by sequence analysis to be pseudogenes. Another group of 5 trypsinogen genes, including the cationic and anionic pancreatic trypsinogen genes, were found to be in a cluster located between 2 elements near the 3-prime end of the TCRB locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3540666+8650574" 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="Tzetis, M., Kaliakatsos, M., Fotoulaki, M., Papatheodorou, A., Doudounakis, S., Tsezou, A., Makrythanasis, P., Kanavakis, E., Nousia-Arvanitakis, S. <strong>Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.</strong> Clin. Genet. 71: 451-457, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17489851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17489851</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00788.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17489851">Tzetis et al. (2007)</a> genotyped the CFTR, SPINK1, and PRSS1 genes in 25 Greek patients with chronic pancreatitis and found that 20 (80%) of 25 had a molecular defect in 1 or both of the CFTR and SPINK1 alleles, whereas no mutations were detected in PRSS11. The authors suggested that mutations or variants in CFTR plus or minus mutations in SPINK1, but not PRSS1, may confer high risk for recurrent pancreatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17489851" 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>Mutations in the PRSS1 Gene</em></strong></p><p>
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<a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> noted that the 5 trypsinogen genes are highly homologous, each residing within a tandemly duplicated 10-kb segment and each composed of 5 exons. Mutational screening analyses for each of the exons from the cationic and anionic trypsinogen genes in multiple affected and unaffected family members allowed <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> to identify a missense mutation in the cationic trypsinogen (PRSS1; <a href="/entry/267000">267000</a>) in all affected members and obligate carriers in 1 family (<a href="/entry/276000#0001">276000.0001</a>). The same R122H mutation (previously designated R117H by the chymotrypsin numbering system) was identified in 5 separate kindreds, raising the possibility that these families might be distantly related and the mutation centuries old. Although no genealogic link could be found through 8 generations, subsequent haplotyping revealed that all 4 of the American families had the same high-risk haplotype over a 4-cM region encompassing 7 STR markers, confirming the likelihood that these kindreds share a common ancestor. A fifth family from Naples, Italy, displayed a unique haplotype indicating that the same mutation had occurred on at least 2 occasions. The R122H mutation created a novel restriction enzyme recognition site for AflIII that permitted facile screening for the mutation in the general population. The mutation was not found in any of 140 unrelated control individuals. X-ray crystal structure analysis, molecular modeling, and protein digest data indicated that the arg122 residue is a trypsin-sensitive site. <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> provided a diagram of a model of the trypsin self-destruct mechanism designed to prevent pancreatic autodigestion. Active trypsin is inhibited normally by a limited supply of trypsin inhibitor (e.g., SPINK1; <a href="/entry/167790">167790</a>). If trypsin activity exceeds the inhibitory capacity of PSTI, then proenzymes, including mesotrypsin (PRSS3; <a href="/entry/613578">613578</a>) and enzyme Y, are activated. The activation of these enzymes is postulated to be part of a feedback mechanism for inactivating wildtype trypsinogen, trypsin, and other zymogens. When the arg122 cleavage site for mesotrypsin, enzyme Y, and trypsin is replaced by histidine, trypsin continues to activate trypsinogen and other zymogens unabated, leading to autodigestion of the pancreas and pancreatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841182" 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 affected members and obligate carriers of a large family originally reported by <a href="#32" class="mim-tip-reference" title="Robechek, P. J. <strong>Hereditary chronic relapsing pancreatitis: a clue to pancreatitis in general?</strong> Am. J. Surg. 113: 819-824, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6023921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6023921</a>] [<a href="https://doi.org/10.1016/0002-9610(67)90354-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6023921">Robechek (1967)</a> with hereditary pancreatitis believed to be due to hypertrophy of the sphincter of Oddi, <a href="#17" class="mim-tip-reference" title="Gorry, M. C., Gabbaizedeh, D., Furey, W., Gates, L. K., Jr., Preston, R. A., Aston, C. E., Zhang, Y., Ulrich, C., Ehrlich, G. D., Whitcomb, D. C. <strong>Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.</strong> Gastroenterology 113: 1063-1068, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9322498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9322498</a>] [<a href="https://doi.org/10.1053/gast.1997.v113.pm9322498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9322498">Gorry et al. (1997)</a> identified heterozygosity for a missense mutation in the PRSS1 gene (N21I; <a href="/entry/276000#0002">276000.0002</a>). The pancreatitis in this family appeared to be a milder form of the disease, with a later onset of symptoms and fewer hospitalizations than that seen in the so-called 'S-family' in which <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> identified the R122H mutation. Noting that prematurely activated trypsin must pass through the sphincter of Oddi and may produce chronic inflammation, scarring, and stenosis, <a href="#17" class="mim-tip-reference" title="Gorry, M. C., Gabbaizedeh, D., Furey, W., Gates, L. K., Jr., Preston, R. A., Aston, C. E., Zhang, Y., Ulrich, C., Ehrlich, G. D., Whitcomb, D. C. <strong>Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.</strong> Gastroenterology 113: 1063-1068, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9322498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9322498</a>] [<a href="https://doi.org/10.1053/gast.1997.v113.pm9322498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9322498">Gorry et al. (1997)</a> suggested that high sphincter pressures may be an independent complication of hereditary pancreatitis rather than the cause. The authors stated that 4 of the 5 patients reporting symptomatic improvement after surgical sphincterotomy had progressed to chronic pancreatitis with insulin-dependent diabetes mellitus, supporting the hypothesis that the underlying pathophysiologic mechanism persists. Affected members of a second, unrelated family with hereditary pancreatitis were also found to have the N21I mutation, which was not found in 188 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6023921+8841182+9322498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Dasouki, M. J., Cogan, J., Summar, M. L., Neblitt, W., III, Foroud, T., Koller, D., Phillips, J. A., III. <strong>Heterogeneity in hereditary pancreatitis.</strong> Am. J. Med. Genet. 77: 47-53, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557894</a>]" pmid="9557894">Dasouki et al. (1998)</a> reported on the results of linkage and direct mutation analysis for the common R122H mutation (<a href="/entry/276000#0001">276000.0001</a>) in the PRSS1 gene in 8 unrelated families with hereditary pancreatitis. By 2-point linkage analysis with the 7q35 marker D7S676, done initially in 4 families, positive lod scores were found in 2, a negative lod score in 1, and a weakly positive lod score in 1. Direct mutation analysis of exon 3 of the cationic trypsinogen gene in 6 families showed that all symptomatic individuals tested were heterozygous for the R122H mutation. Also, several asymptomatic but at-risk relatives were found to be heterozygous for this mutation. Affected individuals in the remaining 2 families did not have the mutation. Radiation hybrid mapping assigned the gene to 7q35 between 2 specific markers. The negative linkage and absence of the trypsinogen mutation in 2 of 8 families suggested locus heterogeneity in hereditary pancreatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Ferec, C., Raguenes, O., Salomon, R., Roche, C., Bernard, J. P., Guillot, M., Quere, I., Faure, C., Mercier, B., Audrezet, M. P., Guillausseau, P. J., Dupont, C., Munnich, A., Bignon, J. D., Le Bodic, L. <strong>Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.</strong> J. Med. Genet. 36: 228-232, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10204851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10204851</a>]" pmid="10204851">Ferec et al. (1999)</a> studied 14 families with hereditary pancreatitis and found mutations in the PRSS1 gene in 8 families. In 4 of these families, the mutation (R122H; <a href="/entry/276000#0001">276000.0001</a>) had been described by <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a>. Three novel mutations were described in 4 other families (<a href="/entry/276000#0003">276000.0003</a>, <a href="/entry/276000#0004">276000.0004</a>, <a href="/entry/276000#0005">276000.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8841182+10204851" 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>Mutations in the CFTR Gene</em></strong></p><p>
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<a href="#40" class="mim-tip-reference" title="Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. <strong>Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.</strong> New Eng. J. Med. 339: 645-652, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9725921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9725921</a>] [<a href="https://doi.org/10.1056/NEJM199809033391001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9725921">Sharer et al. (1998)</a> and <a href="#8" class="mim-tip-reference" title="Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S. <strong>Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.</strong> New Eng. J. Med. 339: 653-658, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9725922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9725922</a>] [<a href="https://doi.org/10.1056/NEJM199809033391002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9725922">Cohn et al. (1998)</a> demonstrated that mutations in the cystic fibrosis gene (CFTR; <a href="/entry/602421">602421</a>) can cause idiopathic pancreatitis when present in heterozygous state in association with the variable number of thymidines in intron 8 of the CFTR gene, specifically the 5T allele (<a href="/entry/602421#0086">602421.0086</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9725921+9725922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chang, M.-C., Chang, Y.-T., Wei, S.-C., Tien, Y.-W., Liang, P.-C., Jan, I.-S., Su, Y.-N., Wong, J.-M. <strong>Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.</strong> Clin. Genet. 71: 530-539, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17539902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17539902</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00813.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17539902">Chang et al. (2007)</a> identified mutations in the CFTR gene in 14.1% of total alleles and 24.4% of 78 Chinese/Taiwanese patients with idiopathic chronic pancreatitis compared to 4.8% of total alleles and 9.5% of 200 matched controls. The findings indicated that heterozygous carriers of CFTR mutations have an increased risk of developing ICP. The mutations identified were different from those usually observed in Western countries. The T5 allele with 12 or 13 TG repeats was significantly associated with earlier age at onset in patients with ICP, although the frequency of this allele did not differ between patients and controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539902" 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>Mutations in the SPINK1 Gene</em></strong></p><p>
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<a href="#49" class="mim-tip-reference" title="Witt, H., Luck, W., Hennies, H. C., Classen, M., Kage, A., Lass, U., Landt, O., Becker, M. <strong>Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.</strong> Nature Genet. 25: 213-216, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835640</a>] [<a href="https://doi.org/10.1038/76088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835640">Witt et al. (2000)</a> demonstrated mutations in the SPINK1 protease inhibitor gene (N34S, <a href="/entry/167790#0001">167790.0001</a>; L14P, <a href="/entry/167790#0005">167790.0005</a>) in children and adolescents with chronic pancreatitis. The N34S mutation was found in 18 of 96 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Chen, J.-M., Mercier, B., Audrezet, M.-P., Ferec, C. <strong>Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.</strong> J. Med. Genet. 37: 67-69, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10691414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10691414</a>] [<a href="https://doi.org/10.1136/jmg.37.1.67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10691414">Chen et al. (2000)</a> reported mutation analysis in the PSTI (SPINK1) gene in 14 families with hereditary pancreatitis and in 30 individuals with sporadic chronic pancreatitis. A total of 7 polymorphisms, but no pathogenic mutations, were detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10691414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Audrezet, M.-P., Chen, J.-M., Le Marechal, C., Ruszniewski, P., Robaszkiewicz, M., Raguenes, O., Quere, I., Scotet, V., Ferec, C. <strong>Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis.</strong> Europ. J. Hum. Genet. 10: 100-106, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938439</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11938439">Audrezet et al. (2002)</a> analyzed systematically the entire coding sequence and exon/intron junctions of the PRSS1 (<a href="/entry/276000">276000</a>), SPINK1 (<a href="/entry/167790">167790</a>), and CFTR genes in 39 white French patients with idiopathic chronic pancreatitis. One patient had a missense mutation (R122H; <a href="/entry/276000#0001">276000.0001</a>) in the PRSS1 gene; 4 patients had the same missense mutation in the SPINK1 gene, 3 in heterozygosity and 1 in homozygosity (N34S; <a href="/entry/167790#0001">167790.0001</a>); and 8 patients carried 1 of the most common mutations of the CFTR gene. A trans-heterozygous state with sequence variations in the SPINK1/CFTR genes was found in 3 patients. The results demonstrated that about one-third of the patients labeled as having idiopathic chronic pancreatitis had, in fact, a genetic defect. <a href="#3" class="mim-tip-reference" title="Audrezet, M.-P., Chen, J.-M., Le Marechal, C., Ruszniewski, P., Robaszkiewicz, M., Raguenes, O., Quere, I., Scotet, V., Ferec, C. <strong>Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis.</strong> Europ. J. Hum. Genet. 10: 100-106, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938439</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11938439">Audrezet et al. (2002)</a> noted that long-term follow-up of these patients, including heterozygotes, homozygotes, compound heterozygotes, and trans-heterozygotes, would improve the understanding of the complex nature of idiopathic chronic pancreatitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11938439" 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 affected members of 2 unrelated families with autosomal dominant chronic pancreatitis, <a href="#21" class="mim-tip-reference" title="Kiraly, O., Boulling, A., Witt, H., Le Marechal, C., Chen, J.-M., Rosendahl, J., Battaggia, C., Wartmann, T., Sahin-Toth, M., Feree, C. <strong>Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.</strong> Hum. Mutat. 28: 469-476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17274009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17274009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17274009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.20471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17274009">Kiraly et al. (2007)</a> identified a heterozygous mutation in the SPINK1 gene (L14R; <a href="/entry/167790#0006">167790.0006</a>). The proband of the Bulgarian family was diagnosed at age 10 years. His father had died of acute pancreatitis, and his paternal grandmother developing pancreatitis at age 59 years. The second family was German and had 3 affected members. <a href="#21" class="mim-tip-reference" title="Kiraly, O., Boulling, A., Witt, H., Le Marechal, C., Chen, J.-M., Rosendahl, J., Battaggia, C., Wartmann, T., Sahin-Toth, M., Feree, C. <strong>Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.</strong> Hum. Mutat. 28: 469-476, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17274009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17274009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17274009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.20471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17274009">Kiraly et al. (2007)</a> noted that the N34S mutation had not to date been demonstrated to result in a functional defect. By expression studies, they demonstrated that the L14P and L14R mutations markedly reduce SPINK1 expression and result in loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17274009" 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>Variation in the CTRC Gene</em></strong></p><p>
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<a href="#33" class="mim-tip-reference" title="Rosendahl, J., Witt, H., Szmola, R., Bhatia, E., Ozsvari, B., Landt, O., Schulz, H.-U., Gress, T. M., Ptufzer, R., Lohr, M., Kovacs, P., Bluher, M., and 22 others. <strong>Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.</strong> Nature Genet. 40: 78-82, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18059268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18059268</a>] [<a href="https://doi.org/10.1038/ng.2007.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18059268">Rosendahl et al. (2008)</a> found that 2 alterations in the CTRC gene, R254W (<a href="/entry/601405#0001">601405.0001</a>) and K247_R254del (<a href="/entry/601405#0002">601405.0002</a>), were significantly overrepresented among German patients with idiopathic or hereditary chronic pancreatitis. A replication study identified overrepresentation of these variants among German patients with alcoholic chronic pancreatitis versus control subjects with alcoholic liver disease without pancreatitis. Functional analysis of these and other associated CTRC variants showed impaired chymotrypsin C activity and or reduced secretion. <a href="#33" class="mim-tip-reference" title="Rosendahl, J., Witt, H., Szmola, R., Bhatia, E., Ozsvari, B., Landt, O., Schulz, H.-U., Gress, T. M., Ptufzer, R., Lohr, M., Kovacs, P., Bluher, M., and 22 others. <strong>Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.</strong> Nature Genet. 40: 78-82, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18059268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18059268</a>] [<a href="https://doi.org/10.1038/ng.2007.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18059268">Rosendahl et al. (2008)</a> concluded that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18059268" 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="#27" class="mim-tip-reference" title="Masson, E., Chen, J.-M., Scotet, V., Le Marechal, C., Ferec, C. <strong>Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.</strong> Hum. Genet. 123: 83-91, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18172691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18172691</a>] [<a href="https://doi.org/10.1007/s00439-007-0459-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18172691">Masson et al. (2008)</a> sequenced the CTRC gene in 287 white French patients with idiopathic chronic pancreatitis and 350 controls and identified 2 common variants and 19 rare variants. The combined frequency of the rare variants in patients with sporadic chronic pancreatitis was significantly higher than that of controls (12% versus 1.1%; OR, 11.8; p less than 10(-6)). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18172691" 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>Variation in the CPA1 Gene</em></strong></p><p>
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For discussion of a possible association between variation in the CPA1 gene and susceptibility to nonalcoholic chronic pancreatitis, see <a href="/entry/114850">114850</a>.</p><p><strong><em>Mutation in the CELA3B gene</em></strong></p><p>
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<a href="#29" class="mim-tip-reference" title="Moore, P. C., Cortez, J. T., Chamberlain, C. E., Alba, D., Berger, A. C., Quandt, Z., Chan, A., Cheng, M. H., Bautista, J. L., Peng, J., German, M. S., Anderson, M. S., Oakes, S. A. <strong>Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.</strong> J. Clin. Invest. 129: 4676-4681, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31369399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31369399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31369399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI129961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31369399">Moore et al. (2019)</a> studied a subset of a large 5-generation pedigree originally reported by <a href="#12" class="mim-tip-reference" title="Davidson, P., Costanza, D., Swieconek, J. A., Harris, J. B. <strong>Hereditary pancreatitis: a kindred without gross aminoaciduria.</strong> Ann. Intern. Med. 68: 88-96, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635333</a>] [<a href="https://doi.org/10.7326/0003-4819-68-1-88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5635333">Davidson et al. (1968)</a>, including 12 members with autosomal dominant pancreatitis, 13 with diabetes (10 of whom had both pancreatitis and diabetes), and 2 with pancreatic cancer (1 of whom also had pancreatitis and diabetes). In the proband and her affected daughter, <a href="#29" class="mim-tip-reference" title="Moore, P. C., Cortez, J. T., Chamberlain, C. E., Alba, D., Berger, A. C., Quandt, Z., Chan, A., Cheng, M. H., Bautista, J. L., Peng, J., German, M. S., Anderson, M. S., Oakes, S. A. <strong>Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.</strong> J. Clin. Invest. 129: 4676-4681, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31369399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31369399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31369399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI129961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31369399">Moore et al. (2019)</a> identified a missense variant (R90C; <a href="/entry/618694#0001">618694.0001</a>) in the CELA3B gene by whole-exome sequencing. The family also segregated a FOXN1 (<a href="/entry/600838">600838</a>) variant, but since this gene is not expressed in the pancreas, <a href="#29" class="mim-tip-reference" title="Moore, P. C., Cortez, J. T., Chamberlain, C. E., Alba, D., Berger, A. C., Quandt, Z., Chan, A., Cheng, M. H., Bautista, J. L., Peng, J., German, M. S., Anderson, M. S., Oakes, S. A. <strong>Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.</strong> J. Clin. Invest. 129: 4676-4681, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31369399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31369399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31369399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI129961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31369399">Moore et al. (2019)</a> hypothesized that variation in this gene was not causative. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5635333+31369399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The 'S.' family used by <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> in their map-based gene discovery in hereditary pancreatitis had the name Slone, according to an editorial accompanying the paper of <a href="#46" class="mim-tip-reference" title="Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. <strong>Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.</strong> Nature Genet. 14: 141-145, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841182</a>] [<a href="https://doi.org/10.1038/ng1096-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841182">Whitcomb et al. (1996)</a> (<a href="#1" class="mim-tip-reference" title="Anonymous. <strong>It takes a family. (Editorial)</strong> Nature Genet. 14: 117-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841172</a>] [<a href="https://doi.org/10.1038/ng1096-117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841172">Anonymous, 1996</a>). This family had been reported by <a href="#28" class="mim-tip-reference" title="McElroy, R., Christiansen, P. A. <strong>Hereditary pancreatitis in a kinship associated with portal vein thrombosis.</strong> Am. J. Med. 52: 228-241, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5062005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5062005</a>] [<a href="https://doi.org/10.1016/0002-9343(72)90072-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5062005">McElroy and Christiansen (1972)</a>. <a href="#48" class="mim-tip-reference" title="Whitcomb, D. C. <strong>Personal Communication.</strong> Pittsburgh, Pa. 12/9/1997."None>Whitcomb (1997)</a> indicated that the family with the R122H mutation in the PRSS1 gene (<a href="/entry/276000#0001">276000.0001</a>) was identified as the S-family, but the 'S.' did not stand for Slone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8841182+5062005+8841172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Appel1974" class="mim-tip-reference" title="Appel, M. F. <strong>Hereditary pancreatitis: review and presentation of an additional kindred.</strong> Arch. Surg. 108: 63-65, 1974.">Appel (1974)</a>; <a href="#Carey1968" class="mim-tip-reference" title="Carey, M. C., Fitzgerald, O. <strong>Hyperparathyroidism associated with chronic pancreatitis in a family.</strong> Gut 9: 700-703, 1968.">Carey and Fitzgerald (1968)</a>; <a href="#Freeman1976" class="mim-tip-reference" title="Freeman, H. J., Weinstein, W. M., Shnitka, T. K., Crockford, P. M., Herbert, F. A. <strong>Alpha-1-antitrypsin deficiency and pancreatic fibrosis.</strong> Ann. Intern. Med. 85: 73-76, 1976.">Freeman et al. (1976)</a>; <a href="#Girard1980" class="mim-tip-reference" title="Girard, R. M., Archambault, A. <strong>Hereditary chronic pancreatitis. (Letter)</strong> New Eng. J. Med. 303: 286-287, 1980.">Girard and Archambault (1980)</a>; <a href="#Gross1964" class="mim-tip-reference" title="Gross, J. B., Ulrich, J. A., Jones, J. D. <strong>Urinary excretion of amino acids in a kindred with hereditary pancreatitis and aminoaciduria.</strong> Gastroenterology 47: 41-48, 1964.">Gross et al. (1964)</a>; <a href="#Kattwinkel1973" class="mim-tip-reference" title="Kattwinkel, J., Lapey, A., Di Sant'Agnese, P. A., Edwards, W. A., Huffy, M. P. <strong>Hereditary pancreatitis: three new kindreds and a critical review of the literature.</strong> Pediatrics 51: 55-69, 1973.">Kattwinkel et al.
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(1973)</a>; <a href="#Makela1985" class="mim-tip-reference" title="Makela, P., Aarimaa, M. <strong>Pancreatography in a family with hereditary pancreatitis.</strong> Acta Radiol. Diagn. (Stockh.) 26: 63-66, 1985.">Makela and Aarimaa (1985)</a>; <a href="#Riccardi1975" class="mim-tip-reference" title="Riccardi, V. M., Shih, V. E., Holmes, L. B., Nardi, G. L. <strong>Hereditary pancreatitis--nonspecificity of aminoaciduria and diagnosis of occult disease.</strong> Arch. Intern. Med. 135: 822-825, 1975.">Riccardi et al. (1975)</a>; <a href="#Sato1974" class="mim-tip-reference" title="Sato, T., Saitoh, Y. <strong>Familial chronic pancreatitis associated with pancreatic lithiasis.</strong> Am. J. Surg. 127: 511-517, 1974.">Sato and
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Saitoh (1974)</a>; <a href="#Sibert1973" class="mim-tip-reference" title="Sibert, J. R. <strong>Hereditary pancreatitis in a Newcastle family.</strong> Arch. Dis. Child. 48: 618-621, 1973.">Sibert (1973)</a>
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Anonymous.
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<strong>It takes a family. (Editorial)</strong>
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Nature Genet. 14: 117-118, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Appel, M. F.
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<strong>Hereditary pancreatitis: review and presentation of an additional kindred.</strong>
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Arch. Surg. 108: 63-65, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4808576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4808576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4808576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archsurg.1974.01350250053014" target="_blank">Full Text</a>]
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Audrezet, M.-P., Chen, J.-M., Le Marechal, C., Ruszniewski, P., Robaszkiewicz, M., Raguenes, O., Quere, I., Scotet, V., Ferec, C.
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<strong>Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis.</strong>
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Europ. J. Hum. Genet. 10: 100-106, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11938439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11938439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11938439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carey, M. C., Fitzgerald, O.
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<strong>Hyperparathyroidism associated with chronic pancreatitis in a family.</strong>
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Gut 9: 700-703, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5717972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5717972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5717972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chang, M.-C., Chang, Y.-T., Wei, S.-C., Tien, Y.-W., Liang, P.-C., Jan, I.-S., Su, Y.-N., Wong, J.-M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17539902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17539902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17539902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chen, J.-M., Mercier, B., Audrezet, M.-P., Ferec, C.
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<strong>Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10691414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10691414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10691414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chiara, H.
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<strong>Ueber Selbstverdauung des menschlichen Pankreas.</strong>
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Ztschr. Heilkunde 17: 70-96, 1896.
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Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S.
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New Eng. J. Med. 339: 653-658, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9725922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9725922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9725922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199809033391002" target="_blank">Full Text</a>]
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Comfort, M. W., Steinberg, A. G.
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<strong>Pedigree of a family with hereditary chronic relapsing pancreatitis.</strong>
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Gastroenterology 21: 54-63, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14926813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14926813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14926813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dalton-Clarke, H. J., Lewis, M. H., Levi, A. J., Blumgart, L. H.
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<strong>Familial chronic calcific pancreatitis: a family study.</strong>
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Brit. J. Surg. 72: 307-308, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3986484/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3986484</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3986484" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/bjs.1800720421" target="_blank">Full Text</a>]
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Dasouki, M. J., Cogan, J., Summar, M. L., Neblitt, W., III, Foroud, T., Koller, D., Phillips, J. A., III.
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Am. J. Med. Genet. 77: 47-53, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9557894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9557894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9557894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Davidson, P., Costanza, D., Swieconek, J. A., Harris, J. B.
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<strong>Hereditary pancreatitis: a kindred without gross aminoaciduria.</strong>
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Ann. Intern. Med. 68: 88-96, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5635333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5635333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5635333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.7326/0003-4819-68-1-88" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198007313030520" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1053/gast.1997.v113.pm9322498" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/bjs.1800800427" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/jnci/89.6.442" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/028418518502600110" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0620" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archinte.135.6.822" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9610(67)90354-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng.2007.44" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.272.5269.1755" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00006676-199405000-00022" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00006676-199603000-00005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(82)90734-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9610(74)90307-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199809033391001" target="_blank">Full Text</a>]
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<a id="Sibert1973" class="mim-anchor"></a>
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<strong>Hereditary pancreatitis in a Newcastle family.</strong>
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[<a href="https://doi.org/10.1136/adc.48.8.618" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
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<a id="Sibert1978" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1136/jmg.15.3.189" target="_blank">Full Text</a>]
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<strong>Hereditary chronic relapsing pancreatitis.</strong>
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[<a href="https://doi.org/10.1056/NEJM198701153160306" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00788.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1096-141" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1053/gast.1996.v110.pm8964426" target="_blank">Full Text</a>]
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<a id="49" class="mim-anchor"></a>
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<a id="Witt2000" class="mim-anchor"></a>
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Witt, H., Luck, W., Hennies, H. C., Classen, M., Kage, A., Lass, U., Landt, O., Becker, M.
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<strong>Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.</strong>
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Nature Genet. 25: 213-216, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/76088" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/09/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/18/2008<br>Victor A. McKusick - updated : 2/11/2008<br>Marla J. F. O'Neill - updated : 1/24/2008<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Cassandra L. Kniffin - updated : 5/14/2007<br>Marla J. F. O'Neill - updated : 3/1/2007<br>Michael B. Petersen - updated : 10/8/2002<br>Michael J. Wright - updated : 1/10/2001<br>Victor A. McKusick - updated : 5/26/2000<br>Michael J. Wright - updated : 11/3/1999<br>Victor A. McKusick - updated : 9/18/1998<br>Victor A. McKusick - updated : 4/21/1998<br>Victor A. McKusick - updated : 1/20/1998<br>Jennifer P. Macke - updated : 7/15/1997<br>Victor A. McKusick - updated : 6/9/1997<br>Moyra Smith - updated : 5/16/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/24/2024
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/17/2020<br>carol : 01/10/2020<br>alopez : 01/09/2020<br>alopez : 11/20/2014<br>mgross : 10/7/2013<br>carol : 12/22/2011<br>mgross : 9/29/2010<br>alopez : 4/9/2010<br>terry : 2/6/2009<br>wwang : 3/27/2008<br>terry : 3/18/2008<br>alopez : 2/11/2008<br>wwang : 1/29/2008<br>terry : 1/24/2008<br>wwang : 7/18/2007<br>ckniffin : 7/10/2007<br>wwang : 6/7/2007<br>ckniffin : 5/14/2007<br>carol : 3/1/2007<br>alopez : 5/31/2006<br>terry : 4/18/2005<br>cwells : 10/8/2002<br>alopez : 1/10/2001<br>alopez : 5/30/2000<br>joanna : 5/26/2000<br>alopez : 11/10/1999<br>terry : 11/3/1999<br>terry : 5/5/1999<br>carol : 9/28/1998<br>terry : 9/18/1998<br>carol : 5/9/1998<br>terry : 4/21/1998<br>terry : 4/21/1998<br>mark : 1/22/1998<br>terry : 1/20/1998<br>jenny : 8/29/1997<br>terry : 6/23/1997<br>alopez : 6/9/1997<br>jamie : 10/18/1996<br>terry : 10/14/1996<br>mark : 10/5/1996<br>mark : 10/4/1996<br>mark : 9/30/1996<br>mark : 9/30/1996<br>terry : 9/26/1996<br>terry : 9/20/1996<br>carol : 5/22/1996<br>carol : 5/16/1996<br>carol : 5/12/1996<br>mark : 3/21/1996<br>terry : 3/13/1996<br>mimadm : 1/14/1995<br>carol : 1/3/1995<br>carol : 5/28/1993<br>carol : 10/20/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<h3>
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<span class="mim-font">
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<strong>#</strong> 167800
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PANCREATITIS, HEREDITARY; PCTT
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</span>
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</h3>
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</div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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HPC<br />
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HP<br />
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PANCREATITIS, CHRONIC
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</span>
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</h4>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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PANCREATITIS, CALCIFIC, INCLUDED<br />
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PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED
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</span>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 235956004, 68072000;
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<strong>ORPHA:</strong> 676;
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<strong>DO:</strong> 4989;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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1p36.21
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Pancreatitis, chronic, susceptibility to}
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</span>
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</td>
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<td>
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<span class="mim-font">
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167800
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CTRC
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</span>
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</td>
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<td>
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<span class="mim-font">
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601405
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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5q32
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</span>
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</td>
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<td>
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<span class="mim-font">
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Pancreatitis, hereditary
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</span>
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</td>
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<td>
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<span class="mim-font">
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167800
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SPINK1
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</span>
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</td>
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<td>
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<span class="mim-font">
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167790
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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7q31.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Pancreatitis, hereditary}
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</span>
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</td>
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<td>
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<span class="mim-font">
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167800
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CFTR
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</span>
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</td>
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<td>
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<span class="mim-font">
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602421
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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7q34
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Pancreatitis, hereditary
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
167800
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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PRSS1
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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276000
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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7q34
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Pancreatitis, chronic, protection against}
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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167800
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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PRSS2
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</span>
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</td>
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<td>
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<span class="mim-font">
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601564
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that chronic pancreatitis can be caused by mutation in the cationic trypsinogen gene PRSS1 (276000) and the SPINK1 gene (167790). Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR; 602421). A missense variant in the PRSS2 gene (601564.0001) confers protection against chronic pancreatitis. Variants in the chymotrypsin C gene (601405) that diminish activity or secretion are associated with chronic pancreatitis.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross et al. (1962) described a kindred with affected persons in 4 generations. Four other families had been reported from the Mayo Clinic, including the first reported example by Comfort and Steinberg (1952). A puzzling feature was the urinary excretion of lysine and cystine by about half the members of affected kindreds (with or without pancreatitis). Cystine urinary stones had not been observed. </p><p>Singer and Cohen (1966) reported onset at about age 20 in a man whose younger sister and a cousin were similarly affected. The attacks were characterized by severe abdominal pains, fever, and marked elevation of serum amylase. Except for the last symptom, differentiation from familial Mediterranean fever (249100), also called 'familial paroxysmal peritonitis,' might be difficult. The aminoaciduria was almost certainly an incidental finding since family members without pancreatitis showed it and because other families with pancreatitis have not had this feature (Davidson et al., 1968). </p><p>Robechek (1967) observed a family in which 5 individuals had hereditary chronic relapsing pancreatitis, 3 of whom obtained symptomatic relief after sphincterotomy or section of the hypertrophied sphincter of Oddi. Robechek (1967) suggested that hypertrophy of the sphincter of Oddi together with a common ampulla of the biliary and pancreatic ducts may be the inherited factor. Mann and Rubin (1969) described a 17-month-old boy with steatorrhea whose 26-year-old brother and mother had steatorrhea and pancreatic calcification. Hereditary pancreatitis occurs with hyperparathyroidism in the multiple endocrine adenomatosis syndrome (131100). McElroy and Christiansen (1972) described a family in which 10 persons had definite pancreatitis and 16 others may have been affected. They pointed out that thrombosis in the portal or splenic vein occurs with significant frequency. </p><p>Sibert (1978) identified 72 patients in 7 families in England and Wales. Penetrance was about 80%. The mean age of onset was 13.6 years. There were 2 peaks, one at 5 years and one at 17 years. The second peak was thought to represent genetically susceptible persons with symptoms precipitated by alcohol, rather than genetic heterogeneity. In 5 of the families, members with both childhood and adult onset were identified. In most cases the attacks were of nuisance value only. Only 4 of the 72 patients had life-threatening disease. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%) and hemorrhagic pleural effusion were observed. Portal vein thrombosis occurred in 2 and was suspected in 3 others. Patients seemed to improve later in life. Attacks were precipitated by emotional upset, alcohol, or high fat intake. </p><p>Sarles et al. (1982) pointed out that chronic calcifying pancreatitis is characterized by pancreatic stones in the ducts and acini. They had shown that 'stone protein' (see 167770) inhibits in vitro calcium carbonate nucleation and decreases the rate of crystal growth, suggesting that it acts as a physiologic inhibitor of spontaneous calcium carbonate formation in supersaturated pancreatic juice. (A similar function has been suggested for statherin in human saliva (Schlesinger and Hay, 1977).) Sarles et al. (1982) found absence of stone protein in the pancreatic stones in a case of calcific pancreatitis and interpreted this as indicating that the protein was not secreted into the pancreatic juice. </p><p>Freud et al. (1992) described the cases of monozygotic twin girls of Ashkenazi origin who were admitted to hospital at the age of 9 years because of recurrent attacks of pancreatitis. Dalton-Clarke et al. (1985) found 10 definite and 4 suspected cases of pancreatitis in an English family. Lewis and Gazet (1993) reported pancreatitis in members of 4 successive generations of a second English family. A male in each of the first generations had a combination of calcific pancreatitis and pancreatic carcinoma. </p><p>Rumenapf et al. (1994) stated that more than 50 families of hereditary pancreatitis had been reported since the first description by Comfort and Steinberg (1952). They reported on the case of a 26-year-old man from a family in which 6 of 34 members had confirmed pancreatitis and an additional 3 members had suspected pancreatitis. A great uncle had died of pancreatic cancer after suffering from pancreatitis for years. Numerous pancreatic calculi were removed surgically, and a side-to-side pancreaticojejunostomy with a Roux-Y loop was performed. Rumenapf et al. (1994) suggested that surgery may be superior to endoscopic drainage. </p><p>Sarles et al. (1996) reported 11 families with hereditary pancreatitis characterized by the presence of calculi in pancreatic ducts. The disorder in 1 family with 5 cases was classified as calcic lithiasis because the calculi were composed of more than 95% calcium salts. Protein lithiasis was present in the other 10 families, the calculi being composed of degraded amorphous residues of lithostathine (167770), the pancreatic secretory protein that inhibits salt crystallization. Average age at clinical onset of symptoms was 15 years. Clinical progression seemed to be less severe than that in alcoholic chronic pancreatitis (alcoholic calcic lithiasis). </p><p>Lowenfels et al. (1997) assembled records on 246 patients (125 males and 121 females) thought to have hereditary pancreatitis. In 218 patients the diagnosis appeared to be highly probable and in 28 patients it was thought to be less certain. The mean age of onset of symptoms of pancreatitis was 13.9 +/- 12.2 years. Compared with an expected number of 0.150, 8 pancreatic adenocarcinomas developed during 8,531 person-years of follow-up. The mean age at diagnosis of pancreatic cancer was 56.9 +/- 11.2 years. Frequency of other tumors was not increased. Eight of 20 reported deaths in the cohort were from pancreatic cancer. Thirty members of the cohort had been tested and all were found to have a mutated copy of the trypsinogen gene. The estimated cumulative risk of pancreatic cancer to age 70 years in patients with hereditary pancreatitis approached 40%. For patients with a paternal inheritance pattern, the cumulative risk of pancreatic cancer was approximately 75%. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Le Bodic et al. (1996) analyzed the genomic segregation of highly informative microsatellite markers in a French family of 147 individuals, 47 of whom had hereditary pancreatitis. Linkage was found between HPC and 6 chromosome 7q markers. The marker D7S661 was linked to HPC with a lod score of 8.58 at theta = 0.077. Multipoint linkage analysis indicated that the HPC gene is most likely located in the region encompassed by markers D7S661 and D7S676 on 7q33-qter. Le Bodic et al. (1996) noted that the gene encoding carboxypeptidase A1 (CPA1; 114850), which is a pancreatic exopeptidase, mapped centromeric to the HPC locus. </p><p>Whitcomb et al. (1996) performed a genomewide linkage analysis on a family extensively affected with hereditary pancreatitis centered in eastern Kentucky and western Virginia. Using microsatellite markers, they established linkage between the hereditary pancreatitis phenotype and 7q. A maximal lod score of 4.73 at a recombination fraction of 0.0 was obtained with D7S684 located in the 7q35 region. Using 3 large HP families located in Virginia, West Virginia, and Tennessee, Pandya et al. (1996) confirmed the tight linkage of HP to marker D7S684. They placed the HP locus within a 16-cM interval between markers D7S495 and D7S688. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Several genes previously mapped to 7q were considered candidates for HPC because they were known to be expressed in the exocrine pancreas and to encode enzymes that could potentially activate digestive enzymes within the pancreas. The hypothesis that pancreatitis results from inappropriate activation of pancreatic proenzymes was first promulgated by Chiara (1896) and subsequently demonstrated to be an experimental model for pancreatitis (Steer and Meldolesi, 1987). However, at least 8 trypsinogen genes are located on 7q35 between markers D7S495 and D7S498 and within the V and D-C segments of the complex T-cell receptor beta chain gene (see 186930). Trypsinogen is an inactive proenzyme for trypsin, which becomes active when an 8-amino acid N-terminal peptide is removed. Of the 8 trypsinogen-like genes sequenced and identified within the TCRB locus by Rowen et al. (1996), 3 were determined by sequence analysis to be pseudogenes. Another group of 5 trypsinogen genes, including the cationic and anionic pancreatic trypsinogen genes, were found to be in a cluster located between 2 elements near the 3-prime end of the TCRB locus. </p><p>Tzetis et al. (2007) genotyped the CFTR, SPINK1, and PRSS1 genes in 25 Greek patients with chronic pancreatitis and found that 20 (80%) of 25 had a molecular defect in 1 or both of the CFTR and SPINK1 alleles, whereas no mutations were detected in PRSS11. The authors suggested that mutations or variants in CFTR plus or minus mutations in SPINK1, but not PRSS1, may confer high risk for recurrent pancreatitis. </p><p><strong><em>Mutations in the PRSS1 Gene</em></strong></p><p>
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Whitcomb et al. (1996) noted that the 5 trypsinogen genes are highly homologous, each residing within a tandemly duplicated 10-kb segment and each composed of 5 exons. Mutational screening analyses for each of the exons from the cationic and anionic trypsinogen genes in multiple affected and unaffected family members allowed Whitcomb et al. (1996) to identify a missense mutation in the cationic trypsinogen (PRSS1; 267000) in all affected members and obligate carriers in 1 family (276000.0001). The same R122H mutation (previously designated R117H by the chymotrypsin numbering system) was identified in 5 separate kindreds, raising the possibility that these families might be distantly related and the mutation centuries old. Although no genealogic link could be found through 8 generations, subsequent haplotyping revealed that all 4 of the American families had the same high-risk haplotype over a 4-cM region encompassing 7 STR markers, confirming the likelihood that these kindreds share a common ancestor. A fifth family from Naples, Italy, displayed a unique haplotype indicating that the same mutation had occurred on at least 2 occasions. The R122H mutation created a novel restriction enzyme recognition site for AflIII that permitted facile screening for the mutation in the general population. The mutation was not found in any of 140 unrelated control individuals. X-ray crystal structure analysis, molecular modeling, and protein digest data indicated that the arg122 residue is a trypsin-sensitive site. Whitcomb et al. (1996) provided a diagram of a model of the trypsin self-destruct mechanism designed to prevent pancreatic autodigestion. Active trypsin is inhibited normally by a limited supply of trypsin inhibitor (e.g., SPINK1; 167790). If trypsin activity exceeds the inhibitory capacity of PSTI, then proenzymes, including mesotrypsin (PRSS3; 613578) and enzyme Y, are activated. The activation of these enzymes is postulated to be part of a feedback mechanism for inactivating wildtype trypsinogen, trypsin, and other zymogens. When the arg122 cleavage site for mesotrypsin, enzyme Y, and trypsin is replaced by histidine, trypsin continues to activate trypsinogen and other zymogens unabated, leading to autodigestion of the pancreas and pancreatitis. </p><p>In affected members and obligate carriers of a large family originally reported by Robechek (1967) with hereditary pancreatitis believed to be due to hypertrophy of the sphincter of Oddi, Gorry et al. (1997) identified heterozygosity for a missense mutation in the PRSS1 gene (N21I; 276000.0002). The pancreatitis in this family appeared to be a milder form of the disease, with a later onset of symptoms and fewer hospitalizations than that seen in the so-called 'S-family' in which Whitcomb et al. (1996) identified the R122H mutation. Noting that prematurely activated trypsin must pass through the sphincter of Oddi and may produce chronic inflammation, scarring, and stenosis, Gorry et al. (1997) suggested that high sphincter pressures may be an independent complication of hereditary pancreatitis rather than the cause. The authors stated that 4 of the 5 patients reporting symptomatic improvement after surgical sphincterotomy had progressed to chronic pancreatitis with insulin-dependent diabetes mellitus, supporting the hypothesis that the underlying pathophysiologic mechanism persists. Affected members of a second, unrelated family with hereditary pancreatitis were also found to have the N21I mutation, which was not found in 188 control chromosomes. </p><p>Dasouki et al. (1998) reported on the results of linkage and direct mutation analysis for the common R122H mutation (276000.0001) in the PRSS1 gene in 8 unrelated families with hereditary pancreatitis. By 2-point linkage analysis with the 7q35 marker D7S676, done initially in 4 families, positive lod scores were found in 2, a negative lod score in 1, and a weakly positive lod score in 1. Direct mutation analysis of exon 3 of the cationic trypsinogen gene in 6 families showed that all symptomatic individuals tested were heterozygous for the R122H mutation. Also, several asymptomatic but at-risk relatives were found to be heterozygous for this mutation. Affected individuals in the remaining 2 families did not have the mutation. Radiation hybrid mapping assigned the gene to 7q35 between 2 specific markers. The negative linkage and absence of the trypsinogen mutation in 2 of 8 families suggested locus heterogeneity in hereditary pancreatitis. </p><p>Ferec et al. (1999) studied 14 families with hereditary pancreatitis and found mutations in the PRSS1 gene in 8 families. In 4 of these families, the mutation (R122H; 276000.0001) had been described by Whitcomb et al. (1996). Three novel mutations were described in 4 other families (276000.0003, 276000.0004, 276000.0005). </p><p><strong><em>Mutations in the CFTR Gene</em></strong></p><p>
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Sharer et al. (1998) and Cohn et al. (1998) demonstrated that mutations in the cystic fibrosis gene (CFTR; 602421) can cause idiopathic pancreatitis when present in heterozygous state in association with the variable number of thymidines in intron 8 of the CFTR gene, specifically the 5T allele (602421.0086). </p><p>Chang et al. (2007) identified mutations in the CFTR gene in 14.1% of total alleles and 24.4% of 78 Chinese/Taiwanese patients with idiopathic chronic pancreatitis compared to 4.8% of total alleles and 9.5% of 200 matched controls. The findings indicated that heterozygous carriers of CFTR mutations have an increased risk of developing ICP. The mutations identified were different from those usually observed in Western countries. The T5 allele with 12 or 13 TG repeats was significantly associated with earlier age at onset in patients with ICP, although the frequency of this allele did not differ between patients and controls. </p><p><strong><em>Mutations in the SPINK1 Gene</em></strong></p><p>
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Witt et al. (2000) demonstrated mutations in the SPINK1 protease inhibitor gene (N34S, 167790.0001; L14P, 167790.0005) in children and adolescents with chronic pancreatitis. The N34S mutation was found in 18 of 96 patients. </p><p>Chen et al. (2000) reported mutation analysis in the PSTI (SPINK1) gene in 14 families with hereditary pancreatitis and in 30 individuals with sporadic chronic pancreatitis. A total of 7 polymorphisms, but no pathogenic mutations, were detected. </p><p>Audrezet et al. (2002) analyzed systematically the entire coding sequence and exon/intron junctions of the PRSS1 (276000), SPINK1 (167790), and CFTR genes in 39 white French patients with idiopathic chronic pancreatitis. One patient had a missense mutation (R122H; 276000.0001) in the PRSS1 gene; 4 patients had the same missense mutation in the SPINK1 gene, 3 in heterozygosity and 1 in homozygosity (N34S; 167790.0001); and 8 patients carried 1 of the most common mutations of the CFTR gene. A trans-heterozygous state with sequence variations in the SPINK1/CFTR genes was found in 3 patients. The results demonstrated that about one-third of the patients labeled as having idiopathic chronic pancreatitis had, in fact, a genetic defect. Audrezet et al. (2002) noted that long-term follow-up of these patients, including heterozygotes, homozygotes, compound heterozygotes, and trans-heterozygotes, would improve the understanding of the complex nature of idiopathic chronic pancreatitis. </p><p>In affected members of 2 unrelated families with autosomal dominant chronic pancreatitis, Kiraly et al. (2007) identified a heterozygous mutation in the SPINK1 gene (L14R; 167790.0006). The proband of the Bulgarian family was diagnosed at age 10 years. His father had died of acute pancreatitis, and his paternal grandmother developing pancreatitis at age 59 years. The second family was German and had 3 affected members. Kiraly et al. (2007) noted that the N34S mutation had not to date been demonstrated to result in a functional defect. By expression studies, they demonstrated that the L14P and L14R mutations markedly reduce SPINK1 expression and result in loss of function. </p><p><strong><em>Variation in the CTRC Gene</em></strong></p><p>
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Rosendahl et al. (2008) found that 2 alterations in the CTRC gene, R254W (601405.0001) and K247_R254del (601405.0002), were significantly overrepresented among German patients with idiopathic or hereditary chronic pancreatitis. A replication study identified overrepresentation of these variants among German patients with alcoholic chronic pancreatitis versus control subjects with alcoholic liver disease without pancreatitis. Functional analysis of these and other associated CTRC variants showed impaired chymotrypsin C activity and or reduced secretion. Rosendahl et al. (2008) concluded that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity. </p><p>Masson et al. (2008) sequenced the CTRC gene in 287 white French patients with idiopathic chronic pancreatitis and 350 controls and identified 2 common variants and 19 rare variants. The combined frequency of the rare variants in patients with sporadic chronic pancreatitis was significantly higher than that of controls (12% versus 1.1%; OR, 11.8; p less than 10(-6)). </p><p><strong><em>Variation in the CPA1 Gene</em></strong></p><p>
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For discussion of a possible association between variation in the CPA1 gene and susceptibility to nonalcoholic chronic pancreatitis, see 114850.</p><p><strong><em>Mutation in the CELA3B gene</em></strong></p><p>
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Moore et al. (2019) studied a subset of a large 5-generation pedigree originally reported by Davidson et al. (1968), including 12 members with autosomal dominant pancreatitis, 13 with diabetes (10 of whom had both pancreatitis and diabetes), and 2 with pancreatic cancer (1 of whom also had pancreatitis and diabetes). In the proband and her affected daughter, Moore et al. (2019) identified a missense variant (R90C; 618694.0001) in the CELA3B gene by whole-exome sequencing. The family also segregated a FOXN1 (600838) variant, but since this gene is not expressed in the pancreas, Moore et al. (2019) hypothesized that variation in this gene was not causative. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The 'S.' family used by Whitcomb et al. (1996) in their map-based gene discovery in hereditary pancreatitis had the name Slone, according to an editorial accompanying the paper of Whitcomb et al. (1996) (Anonymous, 1996). This family had been reported by McElroy and Christiansen (1972). Whitcomb (1997) indicated that the family with the R122H mutation in the PRSS1 gene (276000.0001) was identified as the S-family, but the 'S.' did not stand for Slone. </p>
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Appel (1974); Carey and Fitzgerald (1968); Freeman et al. (1976);
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Girard and Archambault (1980); Gross et al. (1964); Kattwinkel et al.
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(1973); Makela and Aarimaa (1985); Riccardi et al. (1975); Sato and
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Saitoh (1974); Sibert (1973)
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</span>
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<div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Anonymous.
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<strong>It takes a family. (Editorial)</strong>
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Nature Genet. 14: 117-118, 1996.
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[PubMed: 8841172]
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[Full Text: https://doi.org/10.1038/ng1096-117]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Appel, M. F.
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<strong>Hereditary pancreatitis: review and presentation of an additional kindred.</strong>
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Arch. Surg. 108: 63-65, 1974.
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[PubMed: 4808576]
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[Full Text: https://doi.org/10.1001/archsurg.1974.01350250053014]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Audrezet, M.-P., Chen, J.-M., Le Marechal, C., Ruszniewski, P., Robaszkiewicz, M., Raguenes, O., Quere, I., Scotet, V., Ferec, C.
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<strong>Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis.</strong>
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Europ. J. Hum. Genet. 10: 100-106, 2002.
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[PubMed: 11938439]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200786]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Carey, M. C., Fitzgerald, O.
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<strong>Hyperparathyroidism associated with chronic pancreatitis in a family.</strong>
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Gut 9: 700-703, 1968.
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[PubMed: 5717972]
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[Full Text: https://doi.org/10.1136/gut.9.6.700]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chang, M.-C., Chang, Y.-T., Wei, S.-C., Tien, Y.-W., Liang, P.-C., Jan, I.-S., Su, Y.-N., Wong, J.-M.
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<strong>Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.</strong>
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Clin. Genet. 71: 530-539, 2007.
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[PubMed: 17539902]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00813.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chen, J.-M., Mercier, B., Audrezet, M.-P., Ferec, C.
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<strong>Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.</strong>
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J. Med. Genet. 37: 67-69, 2000.
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[PubMed: 10691414]
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[Full Text: https://doi.org/10.1136/jmg.37.1.67]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chiara, H.
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<strong>Ueber Selbstverdauung des menschlichen Pankreas.</strong>
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Ztschr. Heilkunde 17: 70-96, 1896.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S.
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<strong>Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.</strong>
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New Eng. J. Med. 339: 653-658, 1998.
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[PubMed: 9725922]
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[Full Text: https://doi.org/10.1056/NEJM199809033391002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Comfort, M. W., Steinberg, A. G.
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<strong>Pedigree of a family with hereditary chronic relapsing pancreatitis.</strong>
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Gastroenterology 21: 54-63, 1952.
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[PubMed: 14926813]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dalton-Clarke, H. J., Lewis, M. H., Levi, A. J., Blumgart, L. H.
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<strong>Familial chronic calcific pancreatitis: a family study.</strong>
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Brit. J. Surg. 72: 307-308, 1985.
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[PubMed: 3986484]
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[Full Text: https://doi.org/10.1002/bjs.1800720421]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dasouki, M. J., Cogan, J., Summar, M. L., Neblitt, W., III, Foroud, T., Koller, D., Phillips, J. A., III.
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<strong>Heterogeneity in hereditary pancreatitis.</strong>
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Am. J. Med. Genet. 77: 47-53, 1998.
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[PubMed: 9557894]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Davidson, P., Costanza, D., Swieconek, J. A., Harris, J. B.
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<strong>Hereditary pancreatitis: a kindred without gross aminoaciduria.</strong>
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Ann. Intern. Med. 68: 88-96, 1968.
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[PubMed: 5635333]
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[Full Text: https://doi.org/10.7326/0003-4819-68-1-88]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ferec, C., Raguenes, O., Salomon, R., Roche, C., Bernard, J. P., Guillot, M., Quere, I., Faure, C., Mercier, B., Audrezet, M. P., Guillausseau, P. J., Dupont, C., Munnich, A., Bignon, J. D., Le Bodic, L.
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<strong>Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.</strong>
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J. Med. Genet. 36: 228-232, 1999.
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[PubMed: 10204851]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Freeman, H. J., Weinstein, W. M., Shnitka, T. K., Crockford, P. M., Herbert, F. A.
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Ada Hamosh - updated : 01/09/2020<br>Marla J. F. O'Neill - updated : 3/18/2008<br>Victor A. McKusick - updated : 2/11/2008<br>Marla J. F. O'Neill - updated : 1/24/2008<br>Cassandra L. Kniffin - updated : 7/10/2007<br>Cassandra L. Kniffin - updated : 5/14/2007<br>Marla J. F. O'Neill - updated : 3/1/2007<br>Michael B. Petersen - updated : 10/8/2002<br>Michael J. Wright - updated : 1/10/2001<br>Victor A. McKusick - updated : 5/26/2000<br>Michael J. Wright - updated : 11/3/1999<br>Victor A. McKusick - updated : 9/18/1998<br>Victor A. McKusick - updated : 4/21/1998<br>Victor A. McKusick - updated : 1/20/1998<br>Jennifer P. Macke - updated : 7/15/1997<br>Victor A. McKusick - updated : 6/9/1997<br>Moyra Smith - updated : 5/16/1996
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Victor A. McKusick : 6/2/1986
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