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Entry
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- #260370 - PANCREATIC AGENESIS 1; PAGEN1
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- OMIM
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<span class="h4">#260370</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS260370"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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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<div><a href="https://clinicaltrials.gov/search?cond=(PANCREATIC AGENESIS) OR (PDX1)" class="mim-tip-hint" title="Clinical Trials" 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=2548&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9067" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=260370[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=2805" 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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<div style="display: table-cell;">Animal Models</div>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0061003" 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/260370" 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/OMIA002552/" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 2805<br />
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<strong>DO:</strong> 0061003<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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260370
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PANCREATIC AGENESIS 1; PAGEN1
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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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<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>
|
|
<span class="mim-font">
|
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PAGEN<br />
|
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PANCREATIC HYPOPLASIA, CONGENITAL
|
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/61?start=-3&limit=10&highlight=61">
|
|
13q12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pancreatic agenesis 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/260370"> 260370 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
PDX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600733"> 600733 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/260370" 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">
|
|
|
|
<a href="/phenotypicSeries/PS260370" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/260370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/260370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
|
|
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatic agenesis or hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278637</a>]</span><br /> -
|
|
Exocrine pancreatic insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <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=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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Neonatal insulin-dependent diabetes mellitus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000857</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Serum C-peptide and glucagon levels measurable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151580</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Some patients have subclinical exocrine pancreatic deficiency<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the pancreas/duodenum homeobox protein 1 gene (PDX1, <a href="/entry/600733#0001">600733.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Pancreatic agenesis
|
|
- <a href="/phenotypicSeries/PS260370">PS260370</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/104?start=-3&limit=10&highlight=104"> 10p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615935"> Pancreatic agenesis 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because of evidence that pancreatic agenesis-1 (PAGEN1) is caused by homozygous or compound heterozygous mutation in the PDX1 gene (<a href="/entry/600733">600733</a>) on chromosome 13q12.</p>
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<p>Pancreatic agenesis-1 (PAGEN1) is an autosomal recessive disorder characterized by intrauterine growth retardation. Both endocrine and exocrine pancreatic insufficiency become apparent in the first few weeks or months of life (<a href="#14" class="mim-tip-reference" title="Winter, W. E., Maclaren, N. K., Riley, W. J., Toskes, P. P., Andres, J., Rosenbloom, A. L. <strong>Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.</strong> J. Pediat. 109: 465-468, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746536</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80119-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3746536">Winter et al., 1986</a>; <a href="#7" class="mim-tip-reference" title="Schwitzgebel, V. M., Mamin, A., Brun, T., Ritz-Laser, B., Zaiko, M., Maret, A., Jornayvaz, F. R., Theintz, G. E., Michielin, O., Melloul, D., Philippe, J. <strong>Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.</strong> J. Clin. Endocr. Metab. 88: 4398-4406, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970316</a>] [<a href="https://doi.org/10.1210/jc.2003-030046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12970316">Schwitzgebel et al., 2003</a>). Some patients exhibit subclinical exocrine deficiency (<a href="#6" class="mim-tip-reference" title="Nicolino, M., Claiborn, K. C., Senee, V., Boland, A., Stoffers, D. A., Julier, C. <strong>A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.</strong> Diabetes 59: 733-740, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20009086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20009086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20009086[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/10.2337/db09-1284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20009086">Nicolino et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20009086+3746536+12970316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Pancreatic Agenesis</em></strong></p><p>
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Pancreatic agenesis-2 (PAGEN2; <a href="/entry/615935">615935</a>) is caused by mutation in a distal enhancer of the PTF1A gene (<a href="/entry/607194">607194</a>), and pancreatic agenesis-3 (<a href="/entry/620991">620991</a>) is caused by mutation in the ZNF808 gene (<a href="/entry/620970">620970</a>).</p><p>Pancreatic and cerebellar agenesis (PACA; <a href="/entry/609069">609069</a>) is caused by mutation within the PTF1A gene itself. Pancreatic agenesis associated with congenital heart defects (HDCA; <a href="/entry/600001">600001</a>) is caused by mutation in the GATA6 gene (<a href="/entry/601656">601656</a>). Partial agenesis of the dorsal pancreas has also been reported (<a href="/entry/167755">167755</a>).</p>
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<p><a href="#14" class="mim-tip-reference" title="Winter, W. E., Maclaren, N. K., Riley, W. J., Toskes, P. P., Andres, J., Rosenbloom, A. L. <strong>Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.</strong> J. Pediat. 109: 465-468, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746536</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80119-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3746536">Winter et al. (1986)</a> reported a syndrome of endocrine and exocrine pancreatic insufficiency in 2 brothers who were 'small for dates' at birth and had neonatal-onset insulin-dependent diabetes mellitus. In contrast to cases with absence of the islets of Langerhans (<a href="/entry/304790">304790</a>), serum C-peptide and glucagon levels were measurable. <a href="#1" class="mim-tip-reference" title="Dourov, N., Buyl-Strouvens, M. L. <strong>Agenesie du pancreas: observation anatomo-clinique d'un cas de diabete sucre, avec steatorrhee et hypotrophie, chez un nouveau-ne.</strong> Arch. Franc. Pediat. 26: 641-650, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5802058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5802058</a>]" pmid="5802058">Dourov and Buyl-Strouvens (1969)</a> and <a href="#4" class="mim-tip-reference" title="Lemons, J. A., Ridenour, R., Orsini, E. N. <strong>Congenital absence of the pancreas and intrauterine growth retardation.</strong> Pediatrics 64: 255-257, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471619</a>]" pmid="471619">Lemons et al. (1979)</a> described absence (agenesis) of the pancreas. Intrauterine growth retardation appears to relate to the fact that insulin is a major intrauterine growth factor. Exocrine and endocrine tissues of the pancreas originate from common progenitor cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3746536+471619+5802058" 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="Wildling, R., Schnedl, W. J., Reisinger, E. C., Schreiber, F., Lipp, R. W., Lederer, A., Krejs, G. J. <strong>Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons.</strong> Gastroenterology 104: 1182-1186, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8462806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8462806</a>] [<a href="https://doi.org/10.1016/0016-5085(93)90290-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8462806">Wildling et al. (1993)</a> reported agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8462806" 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="#10" class="mim-tip-reference" title="Stoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., Habener, J. F. <strong>Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.</strong> Nature Genet. 15: 106-110, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988180</a>] [<a href="https://doi.org/10.1038/ng0197-106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988180">Stoffers et al. (1997)</a> stated that only 8 cases of pancreatic agenesis had been reported: <a href="#15" class="mim-tip-reference" title="Wright, N. M., Metzger, D. L., Borowitz, S. M., Clarke, W. L. <strong>Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.</strong> Am. J. Dis. Child. 147: 607-609, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506821</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160300013005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506821">Wright et al. (1993)</a>; <a href="#1" class="mim-tip-reference" title="Dourov, N., Buyl-Strouvens, M. L. <strong>Agenesie du pancreas: observation anatomo-clinique d'un cas de diabete sucre, avec steatorrhee et hypotrophie, chez un nouveau-ne.</strong> Arch. Franc. Pediat. 26: 641-650, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5802058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5802058</a>]" pmid="5802058">Dourov and Buyl-Strouvens (1969)</a>; <a href="#5" class="mim-tip-reference" title="Mehes, K., Vamos, K., Goda, M. <strong>Agenesis of pancreas and gall-bladder in an infant of incest.</strong> Acta Paediat. Acad. Sci. Hung. 17: 175-176, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1027315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1027315</a>]" pmid="1027315">Mehes et al. (1976)</a>; <a href="#4" class="mim-tip-reference" title="Lemons, J. A., Ridenour, R., Orsini, E. N. <strong>Congenital absence of the pancreas and intrauterine growth retardation.</strong> Pediatrics 64: 255-257, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471619</a>]" pmid="471619">Lemons et al. (1979)</a>; <a href="#3" class="mim-tip-reference" title="Howard, C. P., Go, V. L., Infante, A. J., Perrault, J., Gerich, J. E., Haymond, M. W. <strong>Long-term survival in a case of functional pancreatic agenesis.</strong> J. Pediat. 97: 786-789, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7000995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7000995</a>] [<a href="https://doi.org/10.1016/s0022-3476(80)80270-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7000995">Howard et al. (1980)</a>; <a href="#12" class="mim-tip-reference" title="Widness, J. A., Cowett, R. M., Zeller, W. P., Susa, J. B., Rubenstein, A. H., Schwartz, R. <strong>Permanent neonatal diabetes in an infant of an insulin-dependent mother.</strong> J. Pediat. 100: 926-929, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7045311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7045311</a>] [<a href="https://doi.org/10.1016/s0022-3476(82)80517-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7045311">Widness et al. (1982)</a>; and <a href="#8" class="mim-tip-reference" title="Sherwood, W. G., Chance, G. W., Hill, D. E. <strong>A new syndrome of pancreatic agenesis: the role of insulin and glucagon in somatic cell growth.</strong> Pediat. Res. 8: 360 only, 1974."None>Sherwood et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=471619+1027315+7000995+8506821+7045311+5802058+8988180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Schwitzgebel, V. M., Mamin, A., Brun, T., Ritz-Laser, B., Zaiko, M., Maret, A., Jornayvaz, F. R., Theintz, G. E., Michielin, O., Melloul, D., Philippe, J. <strong>Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.</strong> J. Clin. Endocr. Metab. 88: 4398-4406, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970316</a>] [<a href="https://doi.org/10.1210/jc.2003-030046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12970316">Schwitzgebel et al. (2003)</a> studied an infant girl, born of nonconsanguineous parents, who developed hyperglycemia at 12 days of life. She failed to thrive despite being on an insulin pump, and exocrine pancreatic insufficiency was diagnosed; after pancreatic enzyme replacement therapy was begun, she developed normally. Abdominal ultrasound and CT scan revealed no pancreas. There was a family history of type 2 diabetes on both sides (maternal and paternal uncles and grandmothers), and her mother had gestational diabetes. Both her mother and father had high normal fasting blood glucose levels, but no glucose intolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970316" 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="Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S. <strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong> Pediat. Diabetes 10: 492-496, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>] [<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19496967">Thomas et al. (2009)</a> described an infant boy who within 24 hours of life had elevated glucose levels requiring an insulin drip; at 3 weeks of age he was found to have severe exocrine pancreatic insufficiency. Management was difficult because of wide fluctuations in blood glucose concentrations in quick succession, inconstancy of appetite and feeding schedule, malabsorption, subcutaneous infections at the pump insertion site, and frequent illnesses. Although he had steady weight gain, he had not yet experienced catch-up growth at 18 months of age, with length at the fiftieth percentile for a 12-month-old child, and weight at the fiftieth percentile for a 6 month old. Ultrasound at 2 weeks of age appeared to show structurally normal mid and distal body of the pancreas, although an ultrasound 1 week later was interpreted as showing only the head of the pancreas. CT of the pancreas at 7 months of age was equivocal, and an ultrasound at 1 year of age revealed a small hypoechoic structure in the area of the pancreatic head; due to his small size, however, a definitive conclusion could not be made. His mother had gestational diabetes during both of her pregnancies, and his father had hyperglycemia treated with oral agents; <a href="#11" class="mim-tip-reference" title="Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S. <strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong> Pediat. Diabetes 10: 492-496, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>] [<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19496967">Thomas et al. (2009)</a> stated that both parents were later given a diagnosis of maturity-onset diabetes of the young (see MODY4 (<a href="/entry/606392">606392</a>) and <a href="#2" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Paz, V. P., Below, J. E., Cox, N. J., Martin, C., Thomas, I. H., Chen, M. <strong>Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.</strong> Transl. Res. 156: 7-14, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20621032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.trsl.2010.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20621032">Fajans et al., 2010</a>). In addition, both maternal and paternal grandparents were being treated for type 2 diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20621032+19496967" 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>Clinical Variability</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Nicolino, M., Claiborn, K. C., Senee, V., Boland, A., Stoffers, D. A., Julier, C. <strong>A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.</strong> Diabetes 59: 733-740, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20009086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20009086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20009086[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/10.2337/db09-1284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20009086">Nicolino et al. (2010)</a> reported a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes treated by insulin pump with excellent linear growth thereafter: both patients' weight, length, and bone age were within normal ranges at 4 years of age. Although there were no clinical signs of exocrine pancreas deficiency, biochemical investigation revealed low or undetectable serum lipase levels, and stool examination showed slightly increased fecal fat excretion, low chymotrypsin, and low elastase levels. In addition, IGF1 levels were very low, and vitamins A, D, E, and K levels were at the lower limits of normal, consistent with some degree of malabsorption. Abdominal ultrasound revealed a normal-sized pancreas in the boy, whereas the girl had a well-individualized and homogeneous head of the pancreas, but the body and tail of the pancreas could not be identified. Both sets of parents were healthy and nondiabetic, and none of the putative obligate carriers in the pedigree were reported to be diabetic. Oral glucose tolerance testing (OGTT) in the parents showed normal fasting plasma glucose and normal glucose tolerance, with preserved first-phase but reduced late-phase insulin secretory responses. With intravenous GTT, the first-phase insulin secretory response tended to be low, and was very low in the 2 fathers. Ultrasonography of the pancreas was normal in the 4 parents, and levels of serum lipase, IGF1, and vitamins A, D, E, and K were within normal ranges. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20009086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a pedigree in which a boy and girl, first cousins born of consanguineous parents, had permanent neonatal diabetes mellitus with subclinical exocrine deficiency, <a href="#6" class="mim-tip-reference" title="Nicolino, M., Claiborn, K. C., Senee, V., Boland, A., Stoffers, D. A., Julier, C. <strong>A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.</strong> Diabetes 59: 733-740, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20009086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20009086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20009086[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/10.2337/db09-1284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20009086">Nicolino et al. (2010)</a> performed a genome scan and identified a single 4.4-Mb region compatible with linkage to chromosome 13q12 (lod score, 3.24), between SNPs <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs943721;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs943721</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs723918;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs723918</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20009086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Caucasian female infant who presented with neonatal diabetes mellitus at birth and pancreatic exocrine insufficiency at 18 days of life, originally reported by <a href="#15" class="mim-tip-reference" title="Wright, N. M., Metzger, D. L., Borowitz, S. M., Clarke, W. L. <strong>Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.</strong> Am. J. Dis. Child. 147: 607-609, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506821</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160300013005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506821">Wright et al. (1993)</a>, <a href="#10" class="mim-tip-reference" title="Stoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., Habener, J. F. <strong>Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.</strong> Nature Genet. 15: 106-110, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988180</a>] [<a href="https://doi.org/10.1038/ng0197-106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988180">Stoffers et al. (1997)</a> identified homozygosity for a 1-bp deletion in the PDX1 gene (<a href="/entry/600733#0001">600733.0001</a>). There was a strong family history of noninsulin-dependent diabetes mellitus. In a later paper, <a href="#9" class="mim-tip-reference" title="Stoffers, D. A., Ferrer, J., Clarke, W. L., Habener, J. F. <strong>Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. (Letter)</strong> Nature Genet. 17: 138-141, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326926</a>] [<a href="https://doi.org/10.1038/ng1097-138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326926">Stoffers et al. (1997)</a> demonstrated that members of the family who were heterozygous for the mutation had early-onset type 2 diabetes mellitus (MODY4; <a href="/entry/606392">606392</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8506821+9326926+8988180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant girl with pancreatic agenesis, <a href="#7" class="mim-tip-reference" title="Schwitzgebel, V. M., Mamin, A., Brun, T., Ritz-Laser, B., Zaiko, M., Maret, A., Jornayvaz, F. R., Theintz, G. E., Michielin, O., Melloul, D., Philippe, J. <strong>Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.</strong> J. Clin. Endocr. Metab. 88: 4398-4406, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12970316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12970316</a>] [<a href="https://doi.org/10.1210/jc.2003-030046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12970316">Schwitzgebel et al. (2003)</a> sequenced both exons of the PDX1 gene and identified compound heterozygosity for 2 missense mutations (<a href="/entry/600733#0008">600733.0008</a> and <a href="/entry/600733#0009">600733.0009</a>). Her parents, who had elevated fasting blood glucose levels but no glucose intolerance, were each heterozygous for 1 of the mutations, and 1 of the mutations was also detected in heterozygosity in a maternal uncle with type 2 diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12970316" 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="Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S. <strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong> Pediat. Diabetes 10: 492-496, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>] [<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19496967">Thomas et al. (2009)</a> reported a family in which a male infant with pancreatic agenesis, whose parents were later determined to have MODY, was homozygous for the same 1-bp deletion in the PDX1 gene previously identified by <a href="#10" class="mim-tip-reference" title="Stoffers, D. A., Zinkin, N. T., Stanojevic, V., Clarke, W. L., Habener, J. F. <strong>Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.</strong> Nature Genet. 15: 106-110, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988180</a>] [<a href="https://doi.org/10.1038/ng0197-106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8988180">Stoffers et al. (1997)</a> (<a href="/entry/600733#0001">600733.0001</a>) in a similar family, originally reported by <a href="#15" class="mim-tip-reference" title="Wright, N. M., Metzger, D. L., Borowitz, S. M., Clarke, W. L. <strong>Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.</strong> Am. J. Dis. Child. 147: 607-609, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506821</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160300013005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506821">Wright et al. (1993)</a>. <a href="#11" class="mim-tip-reference" title="Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S. <strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong> Pediat. Diabetes 10: 492-496, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>] [<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19496967">Thomas et al. (2009)</a> suggested that the 2 families might be related. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8506821+8988180+19496967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Paz, V. P., Below, J. E., Cox, N. J., Martin, C., Thomas, I. H., Chen, M. <strong>Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.</strong> Transl. Res. 156: 7-14, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20621032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.trsl.2010.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20621032">Fajans et al. (2010)</a> restudied the family reported by <a href="#11" class="mim-tip-reference" title="Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S. <strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong> Pediat. Diabetes 10: 492-496, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>] [<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19496967">Thomas et al. (2009)</a>, ultimately identifying 110 members of the 5-generation Michigan-Kentucky pedigree; 34 family members were being treated for diabetes, and 10 of those with diabetes carried the 1-bp deletion in PDX1 and were considered to have MODY4. Patients with MODY as well as those with type 2 diabetes (<a href="/entry/125853">125853</a>) were characterized by obesity and hyperinsulinemia. <a href="#2" class="mim-tip-reference" title="Fajans, S. S., Bell, G. I., Paz, V. P., Below, J. E., Cox, N. J., Martin, C., Thomas, I. H., Chen, M. <strong>Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.</strong> Transl. Res. 156: 7-14, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20621032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.trsl.2010.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20621032">Fajans et al. (2010)</a> identified a single 2.5-Mb region on chromosome 13 shared by the Michigan-Kentucky pedigree and a Virginia pedigree, originally reported by <a href="#15" class="mim-tip-reference" title="Wright, N. M., Metzger, D. L., Borowitz, S. M., Clarke, W. L. <strong>Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.</strong> Am. J. Dis. Child. 147: 607-609, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506821</a>] [<a href="https://doi.org/10.1001/archpedi.1993.02160300013005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506821">Wright et al. (1993)</a>, that also carried the 1-bp deletion in PDX1. The size of the shared region suggested that the PDX1 frameshift mutation emerged in a recent ancestor common to both probands, and that a complex pedigree structure connected the 2 probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8506821+20621032+19496967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes mellitus with subclinical exocrine deficiency mapping to chromosome 13q21, <a href="#6" class="mim-tip-reference" title="Nicolino, M., Claiborn, K. C., Senee, V., Boland, A., Stoffers, D. A., Julier, C. <strong>A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.</strong> Diabetes 59: 733-740, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20009086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20009086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20009086[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/10.2337/db09-1284" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20009086">Nicolino et al. (2010)</a> sequenced the candidate gene PDX1 and identified homozygosity for a missense mutation (E178G; <a href="/entry/600733#0010">600733.0010</a>). The girl had partial agenesis of the pancreas, with only the head visualized on ultrasound, whereas the boy appeared to have a normal-sized pancreas by ultrasound. The 4 parents, who were all heterozygous for E178G, were asymptomatic and nondiabetic, but showed abnormalities in insulin secretory responses during glucose tolerance testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20009086" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20621032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20621032</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20621032[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20621032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20009086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20009086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20009086[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20009086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8988180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8988180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8988180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Thomas, I. H., Saini, N. K., Adhikari, A., Lee, J. M., Kasa-vubu, J. Z., Vazquez, D. M., Menon, R. K., Chen, M., Fajans, S. S.
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<strong>Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 pro63fsX60 mutation.</strong>
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Pediat. Diabetes 10: 492-496, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19496967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19496967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19496967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-5448.2009.00526.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7045311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7045311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7045311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(82)80517-9" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8462806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8462806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8462806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0016-5085(93)90290-s" target="_blank">Full Text</a>]
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<strong>Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.</strong>
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J. Pediat. 109: 465-468, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3746536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3746536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3746536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80119-6" target="_blank">Full Text</a>]
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<a id="Wright1993" class="mim-anchor"></a>
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Wright, N. M., Metzger, D. L., Borowitz, S. M., Clarke, W. L.
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<strong>Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis.</strong>
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Am. J. Dis. Child. 147: 607-609, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8506821" 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/archpedi.1993.02160300013005" 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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Marla J. F. O'Neill - updated : 10/23/2024
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Marla J. F. O'Neill - updated : 9/17/2014<br>Marla J. F. O'Neill - updated : 8/11/2014<br>Marla J. F. O'Neill - updated : 2/23/2012<br>Marla J. F. O'Neill - updated : 2/13/2012<br>Marla J. F. O'Neill - updated : 3/16/2010
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<span class="mim-text-font">
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Victor A. McKusick : 10/23/1986
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carol : 10/23/2024
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alopez : 11/28/2023<br>carol : 03/08/2022<br>carol : 09/28/2015<br>carol : 9/17/2014<br>carol : 8/12/2014<br>mcolton : 8/11/2014<br>carol : 2/23/2012<br>carol : 2/17/2012<br>carol : 2/15/2012<br>carol : 2/13/2012<br>wwang : 9/21/2010<br>wwang : 3/22/2010<br>terry : 3/16/2010<br>alopez : 12/9/2004<br>alopez : 12/9/2004<br>dkim : 12/9/1998<br>alopez : 6/11/1997<br>jamie : 6/3/1997<br>jamie : 3/5/1997<br>jenny : 1/14/1997<br>terry : 1/9/1997<br>mimadm : 3/11/1994<br>supermim : 3/17/1992<br>carol : 2/21/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 260370
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PANCREATIC AGENESIS 1; PAGEN1
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PAGEN<br />
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PANCREATIC HYPOPLASIA, CONGENITAL
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<strong>ORPHA:</strong> 2805;
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<strong>DO:</strong> 0061003;
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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13q12.2
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Pancreatic agenesis 1
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<span class="mim-font">
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260370
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Autosomal recessive
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<span class="mim-font">
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3
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PDX1
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<span class="mim-font">
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600733
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<p>A number sign (#) is used with this entry because of evidence that pancreatic agenesis-1 (PAGEN1) is caused by homozygous or compound heterozygous mutation in the PDX1 gene (600733) on chromosome 13q12.</p>
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<strong>Description</strong>
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<p>Pancreatic agenesis-1 (PAGEN1) is an autosomal recessive disorder characterized by intrauterine growth retardation. Both endocrine and exocrine pancreatic insufficiency become apparent in the first few weeks or months of life (Winter et al., 1986; Schwitzgebel et al., 2003). Some patients exhibit subclinical exocrine deficiency (Nicolino et al., 2010). </p><p><strong><em>Genetic Heterogeneity of Pancreatic Agenesis</em></strong></p><p>
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Pancreatic agenesis-2 (PAGEN2; 615935) is caused by mutation in a distal enhancer of the PTF1A gene (607194), and pancreatic agenesis-3 (620991) is caused by mutation in the ZNF808 gene (620970).</p><p>Pancreatic and cerebellar agenesis (PACA; 609069) is caused by mutation within the PTF1A gene itself. Pancreatic agenesis associated with congenital heart defects (HDCA; 600001) is caused by mutation in the GATA6 gene (601656). Partial agenesis of the dorsal pancreas has also been reported (167755).</p>
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<strong>Clinical Features</strong>
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<p>Winter et al. (1986) reported a syndrome of endocrine and exocrine pancreatic insufficiency in 2 brothers who were 'small for dates' at birth and had neonatal-onset insulin-dependent diabetes mellitus. In contrast to cases with absence of the islets of Langerhans (304790), serum C-peptide and glucagon levels were measurable. Dourov and Buyl-Strouvens (1969) and Lemons et al. (1979) described absence (agenesis) of the pancreas. Intrauterine growth retardation appears to relate to the fact that insulin is a major intrauterine growth factor. Exocrine and endocrine tissues of the pancreas originate from common progenitor cells. </p><p>Wildling et al. (1993) reported agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons. </p><p>Stoffers et al. (1997) stated that only 8 cases of pancreatic agenesis had been reported: Wright et al. (1993); Dourov and Buyl-Strouvens (1969); Mehes et al. (1976); Lemons et al. (1979); Howard et al. (1980); Widness et al. (1982); and Sherwood et al. (1974). </p><p>Schwitzgebel et al. (2003) studied an infant girl, born of nonconsanguineous parents, who developed hyperglycemia at 12 days of life. She failed to thrive despite being on an insulin pump, and exocrine pancreatic insufficiency was diagnosed; after pancreatic enzyme replacement therapy was begun, she developed normally. Abdominal ultrasound and CT scan revealed no pancreas. There was a family history of type 2 diabetes on both sides (maternal and paternal uncles and grandmothers), and her mother had gestational diabetes. Both her mother and father had high normal fasting blood glucose levels, but no glucose intolerance. </p><p>Thomas et al. (2009) described an infant boy who within 24 hours of life had elevated glucose levels requiring an insulin drip; at 3 weeks of age he was found to have severe exocrine pancreatic insufficiency. Management was difficult because of wide fluctuations in blood glucose concentrations in quick succession, inconstancy of appetite and feeding schedule, malabsorption, subcutaneous infections at the pump insertion site, and frequent illnesses. Although he had steady weight gain, he had not yet experienced catch-up growth at 18 months of age, with length at the fiftieth percentile for a 12-month-old child, and weight at the fiftieth percentile for a 6 month old. Ultrasound at 2 weeks of age appeared to show structurally normal mid and distal body of the pancreas, although an ultrasound 1 week later was interpreted as showing only the head of the pancreas. CT of the pancreas at 7 months of age was equivocal, and an ultrasound at 1 year of age revealed a small hypoechoic structure in the area of the pancreatic head; due to his small size, however, a definitive conclusion could not be made. His mother had gestational diabetes during both of her pregnancies, and his father had hyperglycemia treated with oral agents; Thomas et al. (2009) stated that both parents were later given a diagnosis of maturity-onset diabetes of the young (see MODY4 (606392) and Fajans et al., 2010). In addition, both maternal and paternal grandparents were being treated for type 2 diabetes. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Nicolino et al. (2010) reported a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes treated by insulin pump with excellent linear growth thereafter: both patients' weight, length, and bone age were within normal ranges at 4 years of age. Although there were no clinical signs of exocrine pancreas deficiency, biochemical investigation revealed low or undetectable serum lipase levels, and stool examination showed slightly increased fecal fat excretion, low chymotrypsin, and low elastase levels. In addition, IGF1 levels were very low, and vitamins A, D, E, and K levels were at the lower limits of normal, consistent with some degree of malabsorption. Abdominal ultrasound revealed a normal-sized pancreas in the boy, whereas the girl had a well-individualized and homogeneous head of the pancreas, but the body and tail of the pancreas could not be identified. Both sets of parents were healthy and nondiabetic, and none of the putative obligate carriers in the pedigree were reported to be diabetic. Oral glucose tolerance testing (OGTT) in the parents showed normal fasting plasma glucose and normal glucose tolerance, with preserved first-phase but reduced late-phase insulin secretory responses. With intravenous GTT, the first-phase insulin secretory response tended to be low, and was very low in the 2 fathers. Ultrasonography of the pancreas was normal in the 4 parents, and levels of serum lipase, IGF1, and vitamins A, D, E, and K were within normal ranges. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PAGEN1 in the family reported by Stoffers et al. (1997) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>In a pedigree in which a boy and girl, first cousins born of consanguineous parents, had permanent neonatal diabetes mellitus with subclinical exocrine deficiency, Nicolino et al. (2010) performed a genome scan and identified a single 4.4-Mb region compatible with linkage to chromosome 13q12 (lod score, 3.24), between SNPs rs943721 and rs723918. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Caucasian female infant who presented with neonatal diabetes mellitus at birth and pancreatic exocrine insufficiency at 18 days of life, originally reported by Wright et al. (1993), Stoffers et al. (1997) identified homozygosity for a 1-bp deletion in the PDX1 gene (600733.0001). There was a strong family history of noninsulin-dependent diabetes mellitus. In a later paper, Stoffers et al. (1997) demonstrated that members of the family who were heterozygous for the mutation had early-onset type 2 diabetes mellitus (MODY4; 606392). </p><p>In an infant girl with pancreatic agenesis, Schwitzgebel et al. (2003) sequenced both exons of the PDX1 gene and identified compound heterozygosity for 2 missense mutations (600733.0008 and 600733.0009). Her parents, who had elevated fasting blood glucose levels but no glucose intolerance, were each heterozygous for 1 of the mutations, and 1 of the mutations was also detected in heterozygosity in a maternal uncle with type 2 diabetes. </p><p>Thomas et al. (2009) reported a family in which a male infant with pancreatic agenesis, whose parents were later determined to have MODY, was homozygous for the same 1-bp deletion in the PDX1 gene previously identified by Stoffers et al. (1997) (600733.0001) in a similar family, originally reported by Wright et al. (1993). Thomas et al. (2009) suggested that the 2 families might be related. </p><p>Fajans et al. (2010) restudied the family reported by Thomas et al. (2009), ultimately identifying 110 members of the 5-generation Michigan-Kentucky pedigree; 34 family members were being treated for diabetes, and 10 of those with diabetes carried the 1-bp deletion in PDX1 and were considered to have MODY4. Patients with MODY as well as those with type 2 diabetes (125853) were characterized by obesity and hyperinsulinemia. Fajans et al. (2010) identified a single 2.5-Mb region on chromosome 13 shared by the Michigan-Kentucky pedigree and a Virginia pedigree, originally reported by Wright et al. (1993), that also carried the 1-bp deletion in PDX1. The size of the shared region suggested that the PDX1 frameshift mutation emerged in a recent ancestor common to both probands, and that a complex pedigree structure connected the 2 probands. </p><p>In a boy and girl, first cousins born of consanguineous parents, who had permanent neonatal diabetes mellitus with subclinical exocrine deficiency mapping to chromosome 13q21, Nicolino et al. (2010) sequenced the candidate gene PDX1 and identified homozygosity for a missense mutation (E178G; 600733.0010). The girl had partial agenesis of the pancreas, with only the head visualized on ultrasound, whereas the boy appeared to have a normal-sized pancreas by ultrasound. The 4 parents, who were all heterozygous for E178G, were asymptomatic and nondiabetic, but showed abnormalities in insulin secretory responses during glucose tolerance testing. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Dourov, N., Buyl-Strouvens, M. L.
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