3836 lines
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Entry
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- #174900 - JUVENILE POLYPOSIS SYNDROME; JPS
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- OMIM
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<p>
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<span class="h4">#174900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/174900"><strong>Clinical Synopsis</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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<div><a href="https://clinicaltrials.gov/search?cond=JUVENILE POLYPOSIS SYNDROME" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=848&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Juvenile polyposis syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21951&Typ=Pat" title="Generalized juvenile polyposis/juvenile polyposis coli" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Generalized juvenile polyp… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1469/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3939" 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/juvenile-polyposis-syndrome" 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=174900[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Juvenile polyposis syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329971" title="Generalized juvenile polyposis/juvenile polyposis coli" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Generalized juvenile polyp…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/0a9327d3-7c55-4b34-9b72-6cf26815bde6/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050787" 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/174900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050787" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 9273005<br />
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<strong>ORPHA:</strong> 2929, 329971<br />
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<strong>DO:</strong> 0050787<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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174900
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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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JUVENILE POLYPOSIS SYNDROME; JPS
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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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<div>
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<h4>
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<span class="mim-font">
|
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POLYPOSIS, JUVENILE INTESTINAL; PJI<br />
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JUVENILE INTESTINAL POLYPOSIS; JIP<br />
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POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT
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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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<a id="includedTitles" class="mim-anchor"></a>
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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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</p>
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<div>
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<span class="h3 mim-font">
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JUVENILE POLYPOSIS OF STOMACH, INCLUDED
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</span>
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<span class="h4 mim-font">
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JUVENILE POLYPOSIS COLI, INCLUDED
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</span>
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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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<a href="/geneMap/10/356?start=-3&limit=10&highlight=356">
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10q23.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Polyposis, juvenile intestinal
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/174900"> 174900 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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BMPR1A
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601299"> 601299 </a>
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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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<a href="/geneMap/18/189?start=-3&limit=10&highlight=189">
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18q21.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Polyposis, juvenile intestinal
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/174900"> 174900 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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SMAD4
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600993"> 600993 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/174900" 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')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/174900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/174900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GI </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Multiple gastrointestinal polyps<br /> - Rectal bleeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405729008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405729008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12063002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12063002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018932</a>, <a href="https://bioportal.bioontology.org/search?q=C0267596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0267596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002573</a>]</span><br /> - Abdominal pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21522001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21522001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/789.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002027</a>]</span><br /> - Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> - Rectal prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57773001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57773001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K62.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K62.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span><br /> - Intussusception <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41444002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41444002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49723003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49723003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K56.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K56.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/560.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">560.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021933</a>, <a href="https://bioportal.bioontology.org/search?q=C0221224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002576</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002576" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002576</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Oncology </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Colon cancer (cancer not arising in polyps) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/269533000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">269533000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363510005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363510005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363406005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363406005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C18.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C18</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/153.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">153</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0346629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0346629</a>, <a href="https://bioportal.bioontology.org/search?q=C0007102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007102</a>, <a href="https://bioportal.bioontology.org/search?q=C0699790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003003</a>]</span><br />
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</span>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Limbs </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Digital clubbing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R68.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149651</a>, <a href="https://bioportal.bioontology.org/search?q=C0009080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001217</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100759</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001217</a>]</span><br />
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<strong> Growth </strong>
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- 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 />
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<strong> Heme </strong>
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<div style="margin-left: 2em;">
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- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br />
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<strong> Lab </strong>
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- Hypoalbuminemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119247004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119247004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1153477009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1153477009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665623</a>, <a href="https://bioportal.bioontology.org/search?q=C0239981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span><br /> - Hypokalemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166690008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166690008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43339004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43339004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002900" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002900</a>]</span><br /> - Pedunculated spherical smooth polyps contain numerous large cystic spaces filled with a grayish or yellowish mucus surrounded by copious reddish stroma<br />
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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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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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because juvenile polyposis syndrome (JPS) is caused by heterozygous mutation in the MADH4 gene (SMAD4; <a href="/entry/600993">600993</a>) on chromosome 18q21 or in the gene encoding bone morphogenetic protein receptor-1A (BMPR1A; <a href="/entry/601299">601299</a>) on chromosome 10q21.</p>
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<strong>Description</strong>
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<p>Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (<a href="#10" class="mim-tip-reference" title="Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Flejou, J.-F., Thomas, G., Olschwang, S. <strong>Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.</strong> Am. J. Med. Genet. 138A: 113-117, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152648</a>] [<a href="https://doi.org/10.1002/ajmg.a.30897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16152648">Handra-Luca et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152648" 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>It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (<a href="/entry/601728">601728</a>), the same gene that is mutant in Cowden syndrome-1 (<a href="/entry/158350">158350</a>). In a comprehensive review of PTEN, <a href="#39" class="mim-tip-reference" title="Waite, K. A., Eng, C. <strong>Protean PTEN: form and function.</strong> Am. J. Hum. Genet. 70: 829-844, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875759[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/10.1086/340026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875759">Waite and Eng (2002)</a> concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11875759" 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="#38" class="mim-tip-reference" title="Veale, A. M., McColl, I., Bussey, H. J. R., Morson, B. C. <strong>Juvenile polyposis coli.</strong> J. Med. Genet. 3: 5-16, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5911834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5911834</a>] [<a href="https://doi.org/10.1136/jmg.3.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5911834">Veale et al. (1966)</a> investigated the families of 11 patients with juvenile polyposis syndrome. Juvenile polyps were isolated or multiple. The histology and natural history of these polyps suggested that they were hamartomas. In 4 families, multiple polyposis and/or colonic carcinoma occurred in relatives. For example, the father of an affected brother and sister had colonic cancer. In 2 instances, a parent of a case of juvenile polyposis had colonic cancer and multiple polyposis. <a href="#34" class="mim-tip-reference" title="Smilow, P. C., Pryor, C. A., Jr., Swinton, N. W. <strong>Juvenile polyposis coli: a report of three patients in three generations of one family.</strong> Dis. Colon Rectum 9: 248-254, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5940525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5940525</a>] [<a href="https://doi.org/10.1007/BF02616919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5940525">Smilow et al. (1966)</a> described a 7-year-old boy with juvenile polyposis, his mother who at 10 years of age had noted a prolapsed polyp during defecation, and his maternal grandfather who at age 60 had surgery for adenocarcinoma of the colon. In the grandfather, various polyps were present, some resembling adenomatous polyps and others resembling the juvenile polyps found in the proband and his mother. In the proband's mother, the lesions were so numerous that total colectomy and ileostomy were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5911834+5940525" 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>Although some cases of familial polyposis of the entire gastrointestinal tract represent juvenile polyposis, some seem to be adenomatous polyposis. <a href="#42" class="mim-tip-reference" title="Yonemoto, R. H., Slayback, J. B., Byron, R. L., Jr., Rosen, R. B. <strong>Familial polyposis of the entire gastrointestinal tract.</strong> Arch. Surg. 99: 427-434, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808270</a>] [<a href="https://doi.org/10.1001/archsurg.1969.01340160007003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5808270">Yonemoto et al. (1969)</a> described a family with multiple cases consistent with dominant inheritance. Early development of symptoms was typical. One patient had a desmoid tumor of the abdominal wall. The case described by <a href="#26" class="mim-tip-reference" title="Ravitch, M. M. <strong>Polypoid adenomatosis of entire gastro-intestinal tract.</strong> Ann. Surg. 128: 283-298, 1948.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17859198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17859198</a>] [<a href="https://doi.org/10.1097/00000658-194808000-00011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17859198">Ravitch (1948)</a> proved to be juvenile polyposis (<a href="#27" class="mim-tip-reference" title="Ravitch, M. M. <strong>Personal Communication.</strong> Pittsburgh, Pa. 1974."None>Ravitch, 1974</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5808270+17859198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Haggitt, R. C., Pitcock, J. A. <strong>Familial juvenile polyposis of the colon.</strong> Cancer 26: 1232-1238, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5483654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5483654</a>] [<a href="https://doi.org/10.1002/1097-0142(197012)26:6<1232::aid-cncr2820260609>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5483654">Haggitt and Pitcock (1970)</a> described a girl who had onset of intermittent bright red rectal bleeding at age 3 years. Her father, an aunt and an uncle had 'well-differentiated adenocarcinoma with invasion of the submucosa.' The grandfather died at age 42 of colonic cancer. <a href="#6" class="mim-tip-reference" title="Gathright, J. B., Jr., Cofer, T. W., Jr. <strong>Familial incidence of juvenile polyposis coli.</strong> Surg. Gynec. Obstet. 138: 185-188, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4544011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4544011</a>]" pmid="4544011">Gathright and Cofer (1974)</a> described the disorder in a mother and 5 sons. Three brothers and a sister in another family were affected. <a href="#29" class="mim-tip-reference" title="Rozen, P., Baratz, M. <strong>Familial juvenile colonic polyposis with associated colon cancer.</strong> Cancer 49: 1500-1503, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7059958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7059958</a>] [<a href="https://doi.org/10.1002/1097-0142(19820401)49:7<1500::aid-cncr2820490732>3.0.co;2-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7059958">Rozen and Baratz (1982)</a> found multiple juvenile polyps of the colon in mother and son. The mother later developed a metastatic adenocarcinoma of the colon. In both patients, histology of the polyps showed no adenomas, but some of the juvenile polyps contained adenoma-like elements. Because of the mother's history and the adenomatous features of some of the son's polyps, he underwent subtotal colectomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4544011+5483654+7059958" 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="#8" class="mim-tip-reference" title="Grosfeld, J. L., West, K. W. <strong>Generalized juvenile polyposis coli: clinical management based on long-term observations.</strong> Arch. Surg. 121: 530-534, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3707330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3707330</a>] [<a href="https://doi.org/10.1001/archsurg.1986.01400050040005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3707330">Grosfeld and West (1986)</a> presented 5 isolated cases of juvenile polyposis coli. Clinical findings included abdominal pain, weakness, rectal bleeding, diarrhea, rectal prolapse, intussusception, digital clubbing, and failure to thrive. Laboratory findings included anemia, hypoalbuminemia, hypokalemia, and skin test anergy. The authors insisted that 'hamartomatous' was an inappropriate adjective to describe the polyps, since the histology in juvenile polyposis coli was quite different from that seen in Peutz-Jeghers (<a href="/entry/175200">175200</a>) syndrome. <a href="#35" class="mim-tip-reference" title="Soper, R. T. <strong>Discussion.</strong> Arch. Surg. 121: 534, 1986."None>Soper (1986)</a>, in discussing the paper of <a href="#8" class="mim-tip-reference" title="Grosfeld, J. L., West, K. W. <strong>Generalized juvenile polyposis coli: clinical management based on long-term observations.</strong> Arch. Surg. 121: 530-534, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3707330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3707330</a>] [<a href="https://doi.org/10.1001/archsurg.1986.01400050040005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3707330">Grosfeld and West (1986)</a>, stated that 'internists at the University of Iowa have studied a family through 4 generations, in which 15 members had juvenile polyposis...' GI malignancy was present in 11 of the 15, but no cancer arose in polyps. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3707330" 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="#40" class="mim-tip-reference" title="Walpole, I. R., Cullity, G. <strong>Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas.</strong> Am. J. Med. Genet. 32: 1-8, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2705469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2705469</a>] [<a href="https://doi.org/10.1002/ajmg.1320320102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2705469">Walpole and Cullity (1989)</a> described a patient with first presentation of polyposis in the second year of life. The patient had a large head, bilateral inguinal hernias and cryptorchidism, an umbilical hernia, and finger clubbing. Death occurred due to adenocarcinoma of the pancreas at age 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2705469" 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>Familial juvenile polyposis of the stomach (<a href="#41" class="mim-tip-reference" title="Watanabe, A., Nagashima, H., Motoi, M., Ogawa, K. <strong>Familial juvenile polyposis of the stomach.</strong> Gastroenterology 77: 148-151, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/447014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">447014</a>]" pmid="447014">Watanabe et al., 1979</a>) is presumably the same disorder. Gastric cancer was reported in association with juvenile polyposis of the stomach by <a href="#41" class="mim-tip-reference" title="Watanabe, A., Nagashima, H., Motoi, M., Ogawa, K. <strong>Familial juvenile polyposis of the stomach.</strong> Gastroenterology 77: 148-151, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/447014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">447014</a>]" pmid="447014">Watanabe et al. (1979)</a> and <a href="#30" class="mim-tip-reference" title="Sassatelli, R., Bertoni, G., Serra, L., Bedogni, G., Ponz de Leon, M. <strong>Generalized juvenile polyposis with mixed pattern and gastric cancer.</strong> Gastroenterology 104: 910-915, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8440442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8440442</a>] [<a href="https://doi.org/10.1016/0016-5085(93)91031-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8440442">Sassatelli et al. (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=447014+8440442" 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 discussion of juvenile polyps in relation to Bannayan-Riley-Ruvalcaba syndrome (see CWS1, <a href="/entry/158350">158350</a>), <a href="#7" class="mim-tip-reference" title="Gorlin, R. J., Cohen, M. M., Jr., Condon, L. M., Burke, B. A. <strong>Bannayan-Riley-Ruvalcaba syndrome.</strong> Am. J. Med. Genet. 44: 307-314, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1336932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1336932</a>] [<a href="https://doi.org/10.1002/ajmg.1320440309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1336932">Gorlin et al. (1992)</a> defined juvenile polyps as retention polyps usually presenting before 10 years of age, although at least 15% are found in adults. Rectal bleeding is the most common presentation. Grossly and histologically, juvenile polyps are distinctive. They are usually pedunculated and spherical with a smooth surface. A cut section demonstrates numerous large cystic spaces of variable size, filled with a grayish or yellowish mucus surrounded by copious reddish stroma; hence the term 'retention polyp.' In contrast to the hamartomatous polyps of Peutz-Jeghers syndrome, muscle fibers are not present in the stroma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1336932" 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="Subramony, C., Scott-Conner, C. E. H., Skelton, D. S., Hall, T. J. <strong>Familial juvenile polyposis. A study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma.</strong> Am. J. Clin. Path. 102: 91-97, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8037173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8037173</a>] [<a href="https://doi.org/10.1093/ajcp/102.1.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8037173">Subramony et al. (1994)</a> described an extensively affected kindred showing preponderance of right-sided polyps. Subtotal colectomy with ileorectal anastomosis resulted in prompt recurrence of polyps. It was followed by prompt recurrence of polyps in the retained rectum. Further investigations of the family were reported by <a href="#31" class="mim-tip-reference" title="Scott-Conner, C. E. H., Hausmann, M., Hall, T. J., Skelton, D. S., Anglin, B. L., Subramony, C. <strong>Familial juvenile polyposis: patterns of recurrence and implications for surgical management.</strong> J. Am. Coll. Surg. 181: 407-413, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7582207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7582207</a>]" pmid="7582207">Scott-Conner et al. (1995)</a>. Of 34 living members of the kindred, 15 were investigated, and histologically typical juvenile polyps were found in 11. In each instance, polyps were most numerous in the right colon, with few polyps in the descending colon and none in the rectum. Eight patients had had subtotal colectomies with ileorectal anastamoses; the other 3 patients were managed by polypectomy (with 1 recurrence after 10 years). In addition to juvenile polyps, polyps with adenomatous or villous elements were identified in 3 patients. Invasive adenocarcinoma in a large mixed polyp of the cecum was found in 1 of these patients. Coexisting carcinoma of the stomach was found in 2 patients with polyps. Polyps had recurred in the rectal remnants of 3 patients at a mean of 36 months after subtotal colectomy. Two patients had undergone conversion to total proctocolectomy with ileoanal anastomosis and J pouch; 1 patient was found to have juvenile polyps in the pouch 40 months after surgery. <a href="#31" class="mim-tip-reference" title="Scott-Conner, C. E. H., Hausmann, M., Hall, T. J., Skelton, D. S., Anglin, B. L., Subramony, C. <strong>Familial juvenile polyposis: patterns of recurrence and implications for surgical management.</strong> J. Am. Coll. Surg. 181: 407-413, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7582207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7582207</a>]" pmid="7582207">Scott-Conner et al. (1995)</a> concluded that despite the preponderance of right-sided polyps at initial diagnosis, the rapid recurrence of polyps after subtotal colectomy argues in favor of performing proctocolectomy with preservation of anal sphincter function (restorative proctocolectomy) at the time of initial surgery. Patients with a small number of polyps may choose instead to undergo periodic colonoscopy with colonoscopic polypectomy. Histologically, juvenile polyps were comprised primarily of stromal elements, often overlaid with a thin layer of normal-appearing epithelium that was easily traumatized. The proliferative changes seen in adenomas were notably absent. The gross appearance of the surface was smooth, and cystic spaces containing retained mucus were often seen when the polyp was sectioned. The stock was thin and many of these polyps slough spontaneously. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8037173+7582207" 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="Sharma, A. K., Sharma, S. S., Mathur, P. <strong>Familial juvenile polyposis with adenomatous-carcinomatous change.</strong> J. Gastroent. Hepatol. 10: 131-134, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7787156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7787156</a>] [<a href="https://doi.org/10.1111/j.1440-1746.1995.tb01066.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7787156">Sharma et al. (1995)</a> described the clinical and pathologic features of affected members in a large family with juvenile polyposis. Five living affected members had typical juvenile colonic polyps as well as atypical lobulated polyps with adenomatous change in the rectosigmoid area. Four members of the family had died of colonic malignancy between ages 30 and 55. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7787156" 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>The presence of both juvenile polyposis and hereditary hemorrhagic telangiectasia (HHT) in an affected individual defines the syndrome of juvenile polyposis and HHT (JPHT; <a href="/entry/175050">175050</a>). <a href="#5" class="mim-tip-reference" title="Gallione, C. J., Repetto, G. M., Legius, E., Rustgi, A. K., Schelley, S. L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C. J. J., Marchuk, D. A. <strong>A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).</strong> Lancet 363: 852-859, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15031030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15031030</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)15732-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15031030">Gallione et al. (2004)</a> described patients from 7 unrelated families meeting the diagnostic criteria for juvenile polyposis and HHT and carrying mutations in the MADH4 gene (SMAD4; <a href="/entry/600993">600993</a>). The severity (pulmonary and hepatic arteriovenous malformations, cerebral involvement) and often early onset of HHT symptoms in these patients argue in favor of systemic screening for visceral manifestations in juvenile polyposis patients with MADH4 mutations (<a href="#5" class="mim-tip-reference" title="Gallione, C. J., Repetto, G. M., Legius, E., Rustgi, A. K., Schelley, S. L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C. J. J., Marchuk, D. A. <strong>A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).</strong> Lancet 363: 852-859, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15031030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15031030</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)15732-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15031030">Gallione et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15031030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Exclusion of the APC, MCC, and PTEN Genes</em></strong></p><p>
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In a family with juvenile polyposis syndrome, <a href="#20" class="mim-tip-reference" title="Leggett, B. A., Thomas, L. R., Knight, N., Healey, S., Chenevix-Trench, G., Searle, J. <strong>Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis.</strong> Gastroenterology 105: 1313-1316, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8224634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8224634</a>] [<a href="https://doi.org/10.1016/0016-5085(93)90134-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8224634">Leggett et al. (1993)</a> excluded linkage to the APC (<a href="/entry/611731">611731</a>) and MCC (<a href="/entry/159350">159350</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8224634" 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="#18" class="mim-tip-reference" title="Jacoby, R. F., Schlack, S., Sekhon, G., Laxova, R. <strong>Del(10)(q22.3q24.1) associated with juvenile polyposis.</strong> Am. J. Med. Genet. 70: 361-364, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182775</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<361::aid-ajmg6>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9182775">Jacoby et al. (1997)</a> reported a patient with juvenile polyposis and multiple congenital anomalies who had a de novo interstitial deletion of chromosome 10 between bands 10q22.3 and 10q24.1 (<a href="/entry/601242">601242</a>). Other clinical features included short stature, short hands and feet, broad nasal tip and long philtrum, widely spaced canthi, hypoplastic ears, small head, and redundant neck skin. There were also a small umbilical hernia, hypoplastic oblique muscles with bilateral abdominal bulging laterally, and prominent venous patterning on thorax and abdomen. Motor and language skills were developmentally delayed. <a href="#22" class="mim-tip-reference" title="Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C. <strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong> Nature Genet. 16: 333-334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241266</a>] [<a href="https://doi.org/10.1038/ng0897-333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241266">Marsh et al. (1997)</a> commented that the JPS locus is probably located between markers D10S219 and D10S1696, and that Cowden disease maps between markers D10S215 and D10S564, a region telomeric of the JPS region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9241266+9182775" 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="#23" class="mim-tip-reference" title="Marsh, D. J., Roth, S., Lunetta, K. L., Hemminki, A., Dahia, P. L., Sistonen, P., Zheng, Z., Caron, S., van Orsouw, N. J., Bodmer, W. F., Cottrell, S. E., Dunlop, M. G., and 13 others. <strong>Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.</strong> Cancer Res. 57: 5017-5021, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371495</a>]" pmid="9371495">Marsh et al. (1997)</a> used microsatellite markers spanning the 10q22-q24 region to compute multipoint lod scores in 8 informative families with JPS. Lod scores of less than -2.0 were generated for the entire region, thus excluding the PTEN gene and any other genes within the flanking 20-cM interval as candidate loci for familial JPS under their statistical models. In addition, analysis of PTEN using a combination of denaturing gradient gel electrophoresis and direct sequencing was unsuccessful in identifying a germline mutation in 14 families with JPS and 11 sporadic cases. <a href="#22" class="mim-tip-reference" title="Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C. <strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong> Nature Genet. 16: 333-334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241266</a>] [<a href="https://doi.org/10.1038/ng0897-333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241266">Marsh et al. (1997)</a> concluded that at least a proportion of JPS cases are not caused by germline PTEN alterations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9371495+9241266" 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 patients with juvenile intestinal polyposis, <a href="#16" class="mim-tip-reference" title="Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Jarvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., Aaltonen, L. A. <strong>Mutations in the SMAD4/DPC4 gene in juvenile polyposis.</strong> Science 280: 1086-1088, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582123</a>] [<a href="https://doi.org/10.1126/science.280.5366.1086" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582123">Howe et al. (1998)</a> demonstrated different heterozygous mutations in the SMAD4 gene (<a href="/entry/600993#0005">600993.0005</a>-<a href="/entry/600993#0007">600993.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., Eng, C., Markie, D., Woodford-Richens, K., Rodriguez-Bigas, M. A., Leggett, B., Neale, K., Phillips, R., Sheridan, E., Hodgson, S., Iwama, T., Eccles, D., Bodmer, W., Tomlinson, I. <strong>Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.</strong> Hum. Molec. Genet. 7: 1907-1912, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811934</a>] [<a href="https://doi.org/10.1093/hmg/7.12.1907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811934">Houlston et al. (1998)</a> analyzed 8 families in which members had juvenile polyposis syndrome, looking for linkage to DPC4 (SMAD4). Overall, there was no evidence for linkage to DPC4; linkage could be excluded in 2 of the 8 pedigrees and was unlikely in 2 others. They then tested these 8 families and 13 familial and sporadic JPS cases for germline mutations in DPC4. Only 1 germline DPC4 mutation was found in a familial JPS patient with a pedigree unsuitable for linkage analysis. <a href="#12" class="mim-tip-reference" title="Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., Eng, C., Markie, D., Woodford-Richens, K., Rodriguez-Bigas, M. A., Leggett, B., Neale, K., Phillips, R., Sheridan, E., Hodgson, S., Iwama, T., Eccles, D., Bodmer, W., Tomlinson, I. <strong>Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.</strong> Hum. Molec. Genet. 7: 1907-1912, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811934</a>] [<a href="https://doi.org/10.1093/hmg/7.12.1907" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811934">Houlston et al. (1998)</a> concluded that the DPC4 gene is the site of the causative mutation in a minority of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811934" 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="Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., Vogelstein, B. <strong>Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.</strong> Nature Genet. 28: 184-187, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381269</a>] [<a href="https://doi.org/10.1038/88919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381269">Howe et al. (2001)</a> demonstrated mutations in the BMPR1A gene (<a href="/entry/601299#0001">601299.0001</a>-<a href="/entry/601299#0004">601299.0004</a>) in juvenile polyposis kindreds in which a genomewide screen had demonstrated mapping to 10q22-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381269" 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 77 different familial and sporadic cases of JPS, <a href="#17" class="mim-tip-reference" title="Howe, J. R., Sayed, M. G., Ahmed, A. F., Ringold, J., Larsen-Haidle, J., Merg, A., Mitros, F. A., Vaccaro, C. A., Petersen, G. M., Giardiello, F. M., Tinley, S. T., Aaltonen, L. A., Lynch, H. T. <strong>The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.</strong> J. Med. Genet. 41: 484-491, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235019</a>] [<a href="https://doi.org/10.1136/jmg.2004.018598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235019">Howe et al. (2004)</a> identified germline MADH4 mutations in 14 cases (18.2%) and BMPR1A mutations in 16 cases (20.8%). No mutations were found in BMPR1B (<a href="/entry/603248">603248</a>), BMPR2 (<a href="/entry/600799">600799</a>), or ACVR1 (<a href="/entry/102576">102576</a>) in the 32 MADH4 and BMPR1A mutation-negative cases. The authors noted that because mutations were not found in more than half of the patients with JPS, either additional predisposing genes remain to be discovered or alternative means of inactivation of the 2 known genes account for these cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235019" 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="#33" class="mim-tip-reference" title="Shikata, K., Kukita, Y., Matsumoto, T., Esaki, M., Yao, T., Mochizuki, Y., Hayashi, K., Iida, M. <strong>Gastric juvenile polyposis associated with germline SMAD4 mutation.</strong> Am. J. Med. Genet. 134A: 326-329, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15754356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15754356</a>] [<a href="https://doi.org/10.1002/ajmg.a.30482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15754356">Shikata et al. (2005)</a> identified a heterozygous mutation in the SMAD4 gene (<a href="/entry/600993#0007">600993.0007</a>) in a Japanese woman with juvenile polyposis restricted to the stomach. No polyps were identified in the intestine. She also had a pulmonary arteriovenous malformation. The same mutation had previously been identified in a patient with multiple colonic polyps at the age of 6 years. The findings confirmed that juvenile gastric polyposis is a phenotype of the juvenile polyposis syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15754356" 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="Sweet, K., Willis, J., Zhou, X.-P., Gallione, C., Sawada, T., Alhopuro, P., Khoo, S. K., Patocs, A., Martin, C., Bridgeman, S., Heinz, J., Pilarski, R., Lehtonen, R., Prior, T. W., Frebourg, T., Teh, B. T., Marchuk, D. A., Aaltonen, L. A., Eng, C. <strong>Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.</strong> JAMA 294: 2465-2473, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16287957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16287957</a>] [<a href="https://doi.org/10.1001/jama.294.19.2465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16287957">Sweet et al. (2005)</a> sequenced the ENG gene (<a href="/entry/131195">131195</a>) in 14 patients with JPS who were negative for mutation in the SMAD4 and BMPR1A genes and identified germline missense mutations in the ENG gene in 2 patients, respectively. The mutations were not found in 105 North American controls. Neither patient had abnormalities in skin pigmentation or features consistent with a diagnosis of HHT; however, both patients had JPS of unusually early onset (age 3 and 5 years, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16287957" 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 3 of 31 patients with JPS who were negative for mutations in the SMAD4 and BMPR1A genes, <a href="#14" class="mim-tip-reference" title="Howe, J. R., Haidle, J. L., Lal, G., Bair, J., Song, C., Pechman, B., Chinnathambi, S., Lynch, H. T. <strong>ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. (Letter)</strong> Clin. Genet. 71: 91-92, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204053</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00734.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17204053">Howe et al. (2007)</a> identified 2 different nonsynonymous substitutions that had been previously identified as polymorphisms in patients with HTT. The 3 patients did not have clinical manifestations or a family history of HHT or upper gastrointestinal tract polyps, and had a mean age of 7.4 years versus 14.4 years for those without ENG mutations. <a href="#14" class="mim-tip-reference" title="Howe, J. R., Haidle, J. L., Lal, G., Bair, J., Song, C., Pechman, B., Chinnathambi, S., Lynch, H. T. <strong>ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. (Letter)</strong> Clin. Genet. 71: 91-92, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204053</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00734.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17204053">Howe et al. (2007)</a> stated that their findings did not confirm the suggestion that the ENG gene predisposes for JPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17204053" 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>Exclusion of the PTEN Gene</em></strong></p><p>
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<a href="#25" class="mim-tip-reference" title="Olschwang, S., Serova-Sinilnikova, O. M., Lenoir, G. M., Thomas, G. <strong>PTEN germ-line mutations in juvenile polyposis coli. (Letter)</strong> Nature Genet. 18: 12-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425889</a>] [<a href="https://doi.org/10.1038/ng0198-12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425889">Olschwang et al. (1998)</a> reported 3 patients with 'juvenile polyposis coli' and mutations in the PTEN gene (see <a href="/entry/601728#0009">601728.0009</a>-<a href="/entry/601728#0011">601728.0011</a>). However, <a href="#3" class="mim-tip-reference" title="Eng, C., Peacocke, M. <strong>PTEN and inherited hamartoma-cancer syndromes. (Letter)</strong> Nature Genet. 19: 223 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662392</a>] [<a href="https://doi.org/10.1038/897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662392">Eng and Peacocke (1998)</a> questioned the role of PTEN mutations in the juvenile polyposis syndrome. They pointed out that 3 groups (<a href="#22" class="mim-tip-reference" title="Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C. <strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong> Nature Genet. 16: 333-334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241266</a>] [<a href="https://doi.org/10.1038/ng0897-333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241266">Marsh et al., 1997</a>; <a href="#28" class="mim-tip-reference" title="Riggins, G. J., Hamilton, S. R., Kinzler, K. W., Vogelstein, B. <strong>Normal PTEN gene in juvenile polyposis.</strong> J. Neg. Observ. Genet. Oncol. 1: 1, 1997. Note: Electronic Article."None>Riggins et al., 1997</a>; <a href="#15" class="mim-tip-reference" title="Howe, J. R., Ringold, J. C., Summers, R. W., Mitros, F. A., Nishimura, D. Y., Stone, E. M. <strong>A gene for familial juvenile polyposis maps to chromosome 18q21.1.</strong> Am. J. Hum. Genet. 62: 1129-1136, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545410</a>] [<a href="https://doi.org/10.1086/301840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545410">Howe et al., 1998</a>) had found no evidence of germline PTEN mutations in 21 JPS families and 16 sporadic cases, and power calculations indicated that if 10% of JPS cases were due to germline PTEN mutations, there should have been a 0.99 likelihood of detecting at least 1 mutation among these 37 cases. <a href="#3" class="mim-tip-reference" title="Eng, C., Peacocke, M. <strong>PTEN and inherited hamartoma-cancer syndromes. (Letter)</strong> Nature Genet. 19: 223 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662392</a>] [<a href="https://doi.org/10.1038/897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662392">Eng and Peacocke (1998)</a> and <a href="#2" class="mim-tip-reference" title="Eng, C., Ji, H. <strong>Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.</strong> Am. J. Hum. Genet. 62: 1020-1022, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545417</a>] [<a href="https://doi.org/10.1086/301847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545417">Eng and Ji (1998)</a> suggested further that the 3 patients found by <a href="#25" class="mim-tip-reference" title="Olschwang, S., Serova-Sinilnikova, O. M., Lenoir, G. M., Thomas, G. <strong>PTEN germ-line mutations in juvenile polyposis coli. (Letter)</strong> Nature Genet. 18: 12-14, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425889</a>] [<a href="https://doi.org/10.1038/ng0198-12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425889">Olschwang et al. (1998)</a> to have germline PTEN mutations had either Cowden disease or Bannayan-Zonana syndrome; a 74-year-old man had manifestations they interpreted as suggestive of Cowden disease, and the 2 children may not have yet demonstrated features of Cowden disease, which has a penetrance well below 10% under 15 years of age (<a href="#24" class="mim-tip-reference" title="Nelen, M. R., Padberg, G. W., Peeters, E. A., Lin, A. Y., van den Helm, B., Frants, R. R., Coulon, V., Goldstein, A. M., van Reen, M. M., Easton, D. F., Eeles, R. A., Hodgsen, S., and 10 others. <strong>Localization of the gene for Cowden disease to chromosome 10q22-23.</strong> Nature Genet. 13: 114-116, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673088</a>] [<a href="https://doi.org/10.1038/ng0596-114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673088">Nelen et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9241266+9425889+8673088+9545417+9545410+9662392" 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 long review of the PTEN gene, <a href="#39" class="mim-tip-reference" title="Waite, K. A., Eng, C. <strong>Protean PTEN: form and function.</strong> Am. J. Hum. Genet. 70: 829-844, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875759[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/10.1086/340026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875759">Waite and Eng (2002)</a> reviewed the evidence that juvenile polyposis syndrome is not one of the so-called PTEN hamartoma-tumor syndromes (PHTS). <a href="#21" class="mim-tip-reference" title="Lynch, E. D., Ostermeyer, E. A., Lee, M. K., Arena, J. F., Ji, H., Dann, J., Swisshelm, K., Suchard, D., MacLeod, P. M., Kvinnsland, S., Gjertsen, B. T., Heimdal, K., Lubs, H., Moller, P., King, M.-C. <strong>Inherited mutations in PTEN that are associated with breast cancer, Cowden syndrome, and juvenile polyposis.</strong> Am. J. Hum. Genet. 61: 1254-1260, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399897</a>] [<a href="https://doi.org/10.1086/301639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399897">Lynch et al. (1997)</a> referred to germline mutations in individuals with JPS, but it was obvious to <a href="#39" class="mim-tip-reference" title="Waite, K. A., Eng, C. <strong>Protean PTEN: form and function.</strong> Am. J. Hum. Genet. 70: 829-844, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875759[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/10.1086/340026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875759">Waite and Eng (2002)</a>, from the text, that all of the individuals had Cowden syndrome. <a href="#19" class="mim-tip-reference" title="Kurose, K., Araki, T., Matsunaka, T., Takada, Y., Emi, M. <strong>Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (Letter)</strong> Am. J. Hum. Genet. 64: 308-310, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9915974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9915974</a>] [<a href="https://doi.org/10.1086/302207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9915974">Kurose et al. (1999)</a> provided a single hospital-based series that looked for germline PTEN mutations in JPS. They identified 1 individual with a germline PTEN mutation, but on reexamination, classic cutaneous features of Cowden syndrome were found. PTEN was formally excluded as a JPS-susceptibility gene by <a href="#22" class="mim-tip-reference" title="Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C. <strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong> Nature Genet. 16: 333-334, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241266</a>] [<a href="https://doi.org/10.1038/ng0897-333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9241266">Marsh et al. (1997)</a> and it is known that germline mutations in MADH4 (<a href="/entry/600993">600993</a>) on 18q and BMPR1A (<a href="/entry/601299">601299</a>) on 10q account for 40 to 60% of JPS. <a href="#39" class="mim-tip-reference" title="Waite, K. A., Eng, C. <strong>Protean PTEN: form and function.</strong> Am. J. Hum. Genet. 70: 829-844, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875759[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/10.1086/340026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11875759">Waite and Eng (2002)</a> concluded that discovery of a germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9915974+11875759+9241266+9399897" 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="#4" class="mim-tip-reference" title="Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., Sutter, C., Weber, R. G., Pistorius, S., Burger, B., Propping, P. <strong>Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.</strong> Hum. Genet. 111: 108-111, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136244</a>] [<a href="https://doi.org/10.1007/s00439-002-0748-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136244">Friedl et al. (2002)</a> examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in 7 patients (24%) and BMPR1A mutations in 5 (17%). A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This, they claimed, was the first genotype-phenotype correlation observed in JPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12136244" 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="Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Flejou, J.-F., Thomas, G., Olschwang, S. <strong>Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.</strong> Am. J. Med. Genet. 138A: 113-117, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152648</a>] [<a href="https://doi.org/10.1002/ajmg.a.30897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16152648">Handra-Luca et al. (2005)</a> identified mutations in 14 (33%) of 42 patients with juvenile polyposis syndrome: 5 in the BMPR1A gene and 9 in the SMAD4 gene. Five of 9 patients with SMAD4 mutations had high-grade adenomatous lesions, whereas no patients with BMPR1A mutation had high-grade adenomatous lesions, and only 1 patient with a BMPR1A mutation had low-grade adenomas. There were malformative vessels within the stromal components of all SMAD4-related polyps when the mutation involved codons prior to position 423; no BMPR1A-related polyps had malformative vessels. Polyps in SMAD4-mutation carriers were seen in the upper and lower digestive tracts; polyps in BMPR1A mutation carriers were exclusively located in the colorectum. <a href="#10" class="mim-tip-reference" title="Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Flejou, J.-F., Thomas, G., Olschwang, S. <strong>Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.</strong> Am. J. Med. Genet. 138A: 113-117, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152648</a>] [<a href="https://doi.org/10.1002/ajmg.a.30897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16152648">Handra-Luca et al. (2005)</a> concluded that SMAD4 germline mutations are responsible for a more aggressive phenotype in patients with JPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, M. M., Loff, S., Back, W., Kaufmann, A., Keller, K.-M., Blaas, S. H., Siebert, R., Vogt, S., Spranger, S., Holinski-Feder, E., Sunde, L., Propping, P., Friedl, W. <strong>High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome.</strong> J. Med. Genet. 44: 702-709, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17873119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17873119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17873119[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/10.1136/jmg.2007.052506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17873119">Aretz et al. (2007)</a> analyzed the SMAD4 and BMPR1A genes in 80 unrelated patients, 65 with typical JPS and 15 suspected of having JPS, and identified point mutations in 30 (46% of patients with typical JPS) and large deletions in 9 (14% of typical JPS). Among the 27 mutation carriers not previously reported by <a href="#4" class="mim-tip-reference" title="Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., Sutter, C., Weber, R. G., Pistorius, S., Burger, B., Propping, P. <strong>Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.</strong> Hum. Genet. 111: 108-111, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136244</a>] [<a href="https://doi.org/10.1007/s00439-002-0748-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136244">Friedl et al. (2002)</a>, 11 (69%) of 16 patients with SMAD4 mutations had gastric polyposis versus none of 11 patients with BMPR1A mutations (p less than 0.01); all 7 cases of gastric cancer occurred in 3 families with SMAD4 mutations. Including previously reported patients, 5 (22%) of 23 patients with SMAD mutations had hereditary hemorrhagic telangiectasia (see <a href="/entry/175050">175050</a>); HHT was not seen in patients with BMPR1A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17873119+12136244" 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>Because the polyps are not limited to the colon, 'juvenile intestinal polyposis' appears to be a better designation than 'juvenile polyposis coli.'</p>
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<p><a href="#11" class="mim-tip-reference" title="Haramis, A.-P. G., Begthel, H., van den Born, M., van Es, J., Jonkheer, S., Offerhaus, G. J. A., Clevers, H. <strong>De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.</strong> Science 303: 1684-1686, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15017003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15017003</a>] [<a href="https://doi.org/10.1126/science.1093587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15017003">Haramis et al. (2004)</a> used mouse models to demonstrate that bone morphogenic protein-4 (BMP4; <a href="/entry/112262">112262</a>) expression occurs exclusively in the intravillus mesenchyme of the intestine. Villus epithelial cells respond to the BMP signal. Inhibition of BMP signaling by transgenic expression of Noggin (<a href="/entry/602991">602991</a>) resulted in the formation of numerous ectopic crypt units perpendicular to the crypt-villus axis. These changes were similar to the intestinal histopathology of patients with the cancer predisposition syndrome juvenile polyposis, including the frequent occurrence of intraepithelial neoplasia. Many juvenile polyposis cases are known to harbor mutations in BMP pathway genes. <a href="#11" class="mim-tip-reference" title="Haramis, A.-P. G., Begthel, H., van den Born, M., van Es, J., Jonkheer, S., Offerhaus, G. J. A., Clevers, H. <strong>De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.</strong> Science 303: 1684-1686, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15017003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15017003</a>] [<a href="https://doi.org/10.1126/science.1093587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15017003">Haramis et al. (2004)</a> concluded that intestinal BMP signaling represses de novo crypt formation and polyp growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15017003" 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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Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, M. M., Loff, S., Back, W., Kaufmann, A., Keller, K.-M., Blaas, S. H., Siebert, R., Vogt, S., Spranger, S., Holinski-Feder, E., Sunde, L., Propping, P., Friedl, W.
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J. Med. Genet. 44: 702-709, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17873119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17873119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17873119[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=17873119" 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/10.1136/jmg.2007.052506" target="_blank">Full Text</a>]
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<strong>Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.</strong>
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Am. J. Hum. Genet. 62: 1020-1022, 1998.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301847" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Eng1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eng, C., Peacocke, M.
|
|
<strong>PTEN and inherited hamartoma-cancer syndromes. (Letter)</strong>
|
|
Nature Genet. 19: 223 only, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/897" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Friedl2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., Sutter, C., Weber, R. G., Pistorius, S., Burger, B., Propping, P.
|
|
<strong>Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.</strong>
|
|
Hum. Genet. 111: 108-111, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12136244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-002-0748-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Gallione2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gallione, C. J., Repetto, G. M., Legius, E., Rustgi, A. K., Schelley, S. L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C. J. J., Marchuk, D. A.
|
|
<strong>A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).</strong>
|
|
Lancet 363: 852-859, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15031030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15031030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15031030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/S0140-6736(04)15732-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Gathright1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gathright, J. B., Jr., Cofer, T. W., Jr.
|
|
<strong>Familial incidence of juvenile polyposis coli.</strong>
|
|
Surg. Gynec. Obstet. 138: 185-188, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4544011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4544011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4544011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Gorlin1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gorlin, R. J., Cohen, M. M., Jr., Condon, L. M., Burke, B. A.
|
|
<strong>Bannayan-Riley-Ruvalcaba syndrome.</strong>
|
|
Am. J. Med. Genet. 44: 307-314, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1336932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1336932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1336932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320440309" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Grosfeld1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Grosfeld, J. L., West, K. W.
|
|
<strong>Generalized juvenile polyposis coli: clinical management based on long-term observations.</strong>
|
|
Arch. Surg. 121: 530-534, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3707330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3707330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3707330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archsurg.1986.01400050040005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Haggitt1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haggitt, R. C., Pitcock, J. A.
|
|
<strong>Familial juvenile polyposis of the colon.</strong>
|
|
Cancer 26: 1232-1238, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5483654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5483654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5483654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(197012)26:6<1232::aid-cncr2820260609>3.0.co;2-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Handra-Luca2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Flejou, J.-F., Thomas, G., Olschwang, S.
|
|
<strong>Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.</strong>
|
|
Am. J. Med. Genet. 138A: 113-117, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16152648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16152648</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16152648" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.30897" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Haramis2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haramis, A.-P. G., Begthel, H., van den Born, M., van Es, J., Jonkheer, S., Offerhaus, G. J. A., Clevers, H.
|
|
<strong>De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.</strong>
|
|
Science 303: 1684-1686, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15017003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15017003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15017003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1093587" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Houlston1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., Eng, C., Markie, D., Woodford-Richens, K., Rodriguez-Bigas, M. A., Leggett, B., Neale, K., Phillips, R., Sheridan, E., Hodgson, S., Iwama, T., Eccles, D., Bodmer, W., Tomlinson, I.
|
|
<strong>Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.</strong>
|
|
Hum. Molec. Genet. 7: 1907-1912, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/7.12.1907" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Howe2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., Vogelstein, B.
|
|
<strong>Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.</strong>
|
|
Nature Genet. 28: 184-187, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/88919" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Howe2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Haidle, J. L., Lal, G., Bair, J., Song, C., Pechman, B., Chinnathambi, S., Lynch, H. T.
|
|
<strong>ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. (Letter)</strong>
|
|
Clin. Genet. 71: 91-92, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17204053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17204053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17204053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00734.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Howe1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Ringold, J. C., Summers, R. W., Mitros, F. A., Nishimura, D. Y., Stone, E. M.
|
|
<strong>A gene for familial juvenile polyposis maps to chromosome 18q21.1.</strong>
|
|
Am. J. Hum. Genet. 62: 1129-1136, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301840" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Howe1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Jarvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., Aaltonen, L. A.
|
|
<strong>Mutations in the SMAD4/DPC4 gene in juvenile polyposis.</strong>
|
|
Science 280: 1086-1088, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.280.5366.1086" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Howe2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Sayed, M. G., Ahmed, A. F., Ringold, J., Larsen-Haidle, J., Merg, A., Mitros, F. A., Vaccaro, C. A., Petersen, G. M., Giardiello, F. M., Tinley, S. T., Aaltonen, L. A., Lynch, H. T.
|
|
<strong>The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.</strong>
|
|
J. Med. Genet. 41: 484-491, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2004.018598" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Jacoby1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacoby, R. F., Schlack, S., Sekhon, G., Laxova, R.
|
|
<strong>Del(10)(q22.3q24.1) associated with juvenile polyposis.</strong>
|
|
Am. J. Med. Genet. 70: 361-364, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9182775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9182775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9182775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<361::aid-ajmg6>3.0.co;2-w" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Kurose1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kurose, K., Araki, T., Matsunaka, T., Takada, Y., Emi, M.
|
|
<strong>Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (Letter)</strong>
|
|
Am. J. Hum. Genet. 64: 308-310, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9915974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9915974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9915974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302207" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Leggett1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leggett, B. A., Thomas, L. R., Knight, N., Healey, S., Chenevix-Trench, G., Searle, J.
|
|
<strong>Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis.</strong>
|
|
Gastroenterology 105: 1313-1316, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8224634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8224634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8224634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0016-5085(93)90134-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Lynch1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lynch, E. D., Ostermeyer, E. A., Lee, M. K., Arena, J. F., Ji, H., Dann, J., Swisshelm, K., Suchard, D., MacLeod, P. M., Kvinnsland, S., Gjertsen, B. T., Heimdal, K., Lubs, H., Moller, P., King, M.-C.
|
|
<strong>Inherited mutations in PTEN that are associated with breast cancer, Cowden syndrome, and juvenile polyposis.</strong>
|
|
Am. J. Hum. Genet. 61: 1254-1260, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301639" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Marsh1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C.
|
|
<strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong>
|
|
Nature Genet. 16: 333-334, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9241266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9241266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9241266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0897-333" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Marsh1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marsh, D. J., Roth, S., Lunetta, K. L., Hemminki, A., Dahia, P. L., Sistonen, P., Zheng, Z., Caron, S., van Orsouw, N. J., Bodmer, W. F., Cottrell, S. E., Dunlop, M. G., and 13 others.
|
|
<strong>Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.</strong>
|
|
Cancer Res. 57: 5017-5021, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9371495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Nelen1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelen, M. R., Padberg, G. W., Peeters, E. A., Lin, A. Y., van den Helm, B., Frants, R. R., Coulon, V., Goldstein, A. M., van Reen, M. M., Easton, D. F., Eeles, R. A., Hodgsen, S., and 10 others.
|
|
<strong>Localization of the gene for Cowden disease to chromosome 10q22-23.</strong>
|
|
Nature Genet. 13: 114-116, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8673088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0596-114" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Olschwang1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Olschwang, S., Serova-Sinilnikova, O. M., Lenoir, G. M., Thomas, G.
|
|
<strong>PTEN germ-line mutations in juvenile polyposis coli. (Letter)</strong>
|
|
Nature Genet. 18: 12-14, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0198-12" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Ravitch1948" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ravitch, M. M.
|
|
<strong>Polypoid adenomatosis of entire gastro-intestinal tract.</strong>
|
|
Ann. Surg. 128: 283-298, 1948.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17859198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17859198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17859198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00000658-194808000-00011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Ravitch1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ravitch, M. M.
|
|
<strong>Personal Communication.</strong>
|
|
Pittsburgh, Pa. 1974.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Riggins1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Riggins, G. J., Hamilton, S. R., Kinzler, K. W., Vogelstein, B.
|
|
<strong>Normal PTEN gene in juvenile polyposis.</strong>
|
|
J. Neg. Observ. Genet. Oncol. 1: 1, 1997. Note: Electronic Article.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Rozen1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rozen, P., Baratz, M.
|
|
<strong>Familial juvenile colonic polyposis with associated colon cancer.</strong>
|
|
Cancer 49: 1500-1503, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7059958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7059958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7059958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1097-0142(19820401)49:7<1500::aid-cncr2820490732>3.0.co;2-o" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Sassatelli1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sassatelli, R., Bertoni, G., Serra, L., Bedogni, G., Ponz de Leon, M.
|
|
<strong>Generalized juvenile polyposis with mixed pattern and gastric cancer.</strong>
|
|
Gastroenterology 104: 910-915, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8440442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8440442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8440442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0016-5085(93)91031-c" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Scott-Conner1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scott-Conner, C. E. H., Hausmann, M., Hall, T. J., Skelton, D. S., Anglin, B. L., Subramony, C.
|
|
<strong>Familial juvenile polyposis: patterns of recurrence and implications for surgical management.</strong>
|
|
J. Am. Coll. Surg. 181: 407-413, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7582207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7582207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7582207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Sharma1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sharma, A. K., Sharma, S. S., Mathur, P.
|
|
<strong>Familial juvenile polyposis with adenomatous-carcinomatous change.</strong>
|
|
J. Gastroent. Hepatol. 10: 131-134, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7787156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7787156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7787156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1440-1746.1995.tb01066.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Shikata2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shikata, K., Kukita, Y., Matsumoto, T., Esaki, M., Yao, T., Mochizuki, Y., Hayashi, K., Iida, M.
|
|
<strong>Gastric juvenile polyposis associated with germline SMAD4 mutation.</strong>
|
|
Am. J. Med. Genet. 134A: 326-329, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15754356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15754356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15754356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.30482" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Smilow1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smilow, P. C., Pryor, C. A., Jr., Swinton, N. W.
|
|
<strong>Juvenile polyposis coli: a report of three patients in three generations of one family.</strong>
|
|
Dis. Colon Rectum 9: 248-254, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5940525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5940525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5940525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02616919" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Soper1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Soper, R. T.
|
|
<strong>Discussion.</strong>
|
|
Arch. Surg. 121: 534, 1986.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Subramony1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Subramony, C., Scott-Conner, C. E. H., Skelton, D. S., Hall, T. J.
|
|
<strong>Familial juvenile polyposis. A study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma.</strong>
|
|
Am. J. Clin. Path. 102: 91-97, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8037173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8037173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8037173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/ajcp/102.1.91" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Sweet2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sweet, K., Willis, J., Zhou, X.-P., Gallione, C., Sawada, T., Alhopuro, P., Khoo, S. K., Patocs, A., Martin, C., Bridgeman, S., Heinz, J., Pilarski, R., Lehtonen, R., Prior, T. W., Frebourg, T., Teh, B. T., Marchuk, D. A., Aaltonen, L. A., Eng, C.
|
|
<strong>Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.</strong>
|
|
JAMA 294: 2465-2473, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16287957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16287957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16287957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/jama.294.19.2465" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Veale1966" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Veale, A. M., McColl, I., Bussey, H. J. R., Morson, B. C.
|
|
<strong>Juvenile polyposis coli.</strong>
|
|
J. Med. Genet. 3: 5-16, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5911834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5911834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5911834" 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/10.1136/jmg.3.1.5" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Waite2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Waite, K. A., Eng, C.
|
|
<strong>Protean PTEN: form and function.</strong>
|
|
Am. J. Hum. Genet. 70: 829-844, 2002.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11875759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11875759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11875759[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=11875759" 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/10.1086/340026" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Walpole1989" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Walpole, I. R., Cullity, G.
|
|
<strong>Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas.</strong>
|
|
Am. J. Med. Genet. 32: 1-8, 1989.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2705469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2705469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2705469" 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/ajmg.1320320102" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Watanabe1979" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Watanabe, A., Nagashima, H., Motoi, M., Ogawa, K.
|
|
<strong>Familial juvenile polyposis of the stomach.</strong>
|
|
Gastroenterology 77: 148-151, 1979.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/447014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">447014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=447014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="42" class="mim-anchor"></a>
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<a id="Yonemoto1969" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
|
|
Yonemoto, R. H., Slayback, J. B., Byron, R. L., Jr., Rosen, R. B.
|
|
<strong>Familial polyposis of the entire gastrointestinal tract.</strong>
|
|
Arch. Surg. 99: 427-434, 1969.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5808270" 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.1969.01340160007003" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 : 1/7/2008
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 3/9/2007<br>Cassandra L. Kniffin - updated : 10/2/2006<br>Victor A. McKusick - updated : 8/23/2006<br>Anne M. Stumpf - updated : 5/23/2006<br>Victor A. McKusick - updated : 3/9/2006<br>Cassandra L. Kniffin - updated : 10/25/2005<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Ada Hamosh - updated : 4/12/2004<br>Victor A. McKusick - updated : 9/10/2002<br>Victor A. McKusick - updated : 4/12/2002<br>Victor A. McKusick - updated : 5/24/2001<br>Victor A. McKusick - updated : 3/11/1999<br>Victor A. McKusick - updated : 11/9/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 1/6/1998<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 7/31/1997<br>Victor A. McKusick - updated : 7/17/1997<br>Clair A. Francomano - updated : 5/15/1995
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/2/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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alopez : 03/20/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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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 : 09/27/2021<br>carol : 06/27/2018<br>carol : 05/25/2016<br>wwang : 8/26/2008<br>ckniffin : 8/18/2008<br>wwang : 5/21/2008<br>ckniffin : 2/5/2008<br>wwang : 1/16/2008<br>terry : 1/7/2008<br>wwang : 3/13/2007<br>terry : 3/9/2007<br>wwang : 10/9/2006<br>ckniffin : 10/2/2006<br>alopez : 8/29/2006<br>terry : 8/23/2006<br>alopez : 5/23/2006<br>wwang : 4/21/2006<br>alopez : 3/14/2006<br>terry : 3/9/2006<br>wwang : 11/21/2005<br>wwang : 11/7/2005<br>ckniffin : 10/25/2005<br>alopez : 7/14/2005<br>carol : 8/27/2004<br>terry : 8/27/2004<br>alopez : 4/14/2004<br>terry : 4/12/2004<br>carol : 5/21/2003<br>alopez : 9/10/2002<br>alopez : 4/25/2002<br>cwells : 4/17/2002<br>terry : 4/12/2002<br>alopez : 5/29/2001<br>terry : 5/24/2001<br>carol : 3/29/1999<br>terry : 3/11/1999<br>carol : 1/22/1999<br>carol : 11/13/1998<br>terry : 11/9/1998<br>terry : 8/20/1998<br>terry : 8/20/1998<br>carol : 7/13/1998<br>terry : 7/7/1998<br>alopez : 6/29/1998<br>terry : 6/26/1998<br>terry : 6/25/1998<br>terry : 5/13/1998<br>mark : 1/9/1998<br>terry : 1/6/1998<br>terry : 12/30/1997<br>terry : 12/29/1997<br>terry : 8/4/1997<br>terry : 7/31/1997<br>terry : 7/25/1997<br>terry : 7/17/1997<br>jenny : 7/9/1997<br>mark : 4/9/1996<br>terry : 3/26/1996<br>mark : 1/28/1996<br>terry : 1/23/1996<br>mark : 6/22/1995<br>mimadm : 2/25/1995<br>terry : 5/4/1994<br>carol : 11/4/1992<br>supermim : 3/16/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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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<strong>#</strong> 174900
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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>
|
|
<span class="mim-font">
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|
|
JUVENILE POLYPOSIS SYNDROME; JPS
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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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<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>
|
|
<span class="mim-font">
|
|
POLYPOSIS, JUVENILE INTESTINAL; PJI<br />
|
|
JUVENILE INTESTINAL POLYPOSIS; JIP<br />
|
|
POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT
|
|
</span>
|
|
</h4>
|
|
</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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<div>
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
JUVENILE POLYPOSIS OF STOMACH, INCLUDED
|
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</span>
|
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</div>
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<div>
|
|
<span class="h4 mim-font">
|
|
|
|
JUVENILE POLYPOSIS COLI, INCLUDED
|
|
</span>
|
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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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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 9273005;
|
|
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|
|
<strong>ORPHA:</strong> 2929, 329971;
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<strong>DO:</strong> 0050787;
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
10q23.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Polyposis, juvenile intestinal
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
174900
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
BMPR1A
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
601299
|
|
</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">
|
|
18q21.2
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Polyposis, juvenile intestinal
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
174900
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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">
|
|
3
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SMAD4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600993
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
</tbody>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because juvenile polyposis syndrome (JPS) is caused by heterozygous mutation in the MADH4 gene (SMAD4; 600993) on chromosome 18q21 or in the gene encoding bone morphogenetic protein receptor-1A (BMPR1A; 601299) on chromosome 10q21.</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). </p><p>It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS. </p>
|
|
</span>
|
|
<div>
|
|
<br />
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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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<span class="mim-text-font">
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<p>Veale et al. (1966) investigated the families of 11 patients with juvenile polyposis syndrome. Juvenile polyps were isolated or multiple. The histology and natural history of these polyps suggested that they were hamartomas. In 4 families, multiple polyposis and/or colonic carcinoma occurred in relatives. For example, the father of an affected brother and sister had colonic cancer. In 2 instances, a parent of a case of juvenile polyposis had colonic cancer and multiple polyposis. Smilow et al. (1966) described a 7-year-old boy with juvenile polyposis, his mother who at 10 years of age had noted a prolapsed polyp during defecation, and his maternal grandfather who at age 60 had surgery for adenocarcinoma of the colon. In the grandfather, various polyps were present, some resembling adenomatous polyps and others resembling the juvenile polyps found in the proband and his mother. In the proband's mother, the lesions were so numerous that total colectomy and ileostomy were performed. </p><p>Although some cases of familial polyposis of the entire gastrointestinal tract represent juvenile polyposis, some seem to be adenomatous polyposis. Yonemoto et al. (1969) described a family with multiple cases consistent with dominant inheritance. Early development of symptoms was typical. One patient had a desmoid tumor of the abdominal wall. The case described by Ravitch (1948) proved to be juvenile polyposis (Ravitch, 1974). </p><p>Haggitt and Pitcock (1970) described a girl who had onset of intermittent bright red rectal bleeding at age 3 years. Her father, an aunt and an uncle had 'well-differentiated adenocarcinoma with invasion of the submucosa.' The grandfather died at age 42 of colonic cancer. Gathright and Cofer (1974) described the disorder in a mother and 5 sons. Three brothers and a sister in another family were affected. Rozen and Baratz (1982) found multiple juvenile polyps of the colon in mother and son. The mother later developed a metastatic adenocarcinoma of the colon. In both patients, histology of the polyps showed no adenomas, but some of the juvenile polyps contained adenoma-like elements. Because of the mother's history and the adenomatous features of some of the son's polyps, he underwent subtotal colectomy. </p><p>Grosfeld and West (1986) presented 5 isolated cases of juvenile polyposis coli. Clinical findings included abdominal pain, weakness, rectal bleeding, diarrhea, rectal prolapse, intussusception, digital clubbing, and failure to thrive. Laboratory findings included anemia, hypoalbuminemia, hypokalemia, and skin test anergy. The authors insisted that 'hamartomatous' was an inappropriate adjective to describe the polyps, since the histology in juvenile polyposis coli was quite different from that seen in Peutz-Jeghers (175200) syndrome. Soper (1986), in discussing the paper of Grosfeld and West (1986), stated that 'internists at the University of Iowa have studied a family through 4 generations, in which 15 members had juvenile polyposis...' GI malignancy was present in 11 of the 15, but no cancer arose in polyps. </p><p>Walpole and Cullity (1989) described a patient with first presentation of polyposis in the second year of life. The patient had a large head, bilateral inguinal hernias and cryptorchidism, an umbilical hernia, and finger clubbing. Death occurred due to adenocarcinoma of the pancreas at age 19. </p><p>Familial juvenile polyposis of the stomach (Watanabe et al., 1979) is presumably the same disorder. Gastric cancer was reported in association with juvenile polyposis of the stomach by Watanabe et al. (1979) and Sassatelli et al. (1993). </p><p>In a discussion of juvenile polyps in relation to Bannayan-Riley-Ruvalcaba syndrome (see CWS1, 158350), Gorlin et al. (1992) defined juvenile polyps as retention polyps usually presenting before 10 years of age, although at least 15% are found in adults. Rectal bleeding is the most common presentation. Grossly and histologically, juvenile polyps are distinctive. They are usually pedunculated and spherical with a smooth surface. A cut section demonstrates numerous large cystic spaces of variable size, filled with a grayish or yellowish mucus surrounded by copious reddish stroma; hence the term 'retention polyp.' In contrast to the hamartomatous polyps of Peutz-Jeghers syndrome, muscle fibers are not present in the stroma. </p><p>Subramony et al. (1994) described an extensively affected kindred showing preponderance of right-sided polyps. Subtotal colectomy with ileorectal anastomosis resulted in prompt recurrence of polyps. It was followed by prompt recurrence of polyps in the retained rectum. Further investigations of the family were reported by Scott-Conner et al. (1995). Of 34 living members of the kindred, 15 were investigated, and histologically typical juvenile polyps were found in 11. In each instance, polyps were most numerous in the right colon, with few polyps in the descending colon and none in the rectum. Eight patients had had subtotal colectomies with ileorectal anastamoses; the other 3 patients were managed by polypectomy (with 1 recurrence after 10 years). In addition to juvenile polyps, polyps with adenomatous or villous elements were identified in 3 patients. Invasive adenocarcinoma in a large mixed polyp of the cecum was found in 1 of these patients. Coexisting carcinoma of the stomach was found in 2 patients with polyps. Polyps had recurred in the rectal remnants of 3 patients at a mean of 36 months after subtotal colectomy. Two patients had undergone conversion to total proctocolectomy with ileoanal anastomosis and J pouch; 1 patient was found to have juvenile polyps in the pouch 40 months after surgery. Scott-Conner et al. (1995) concluded that despite the preponderance of right-sided polyps at initial diagnosis, the rapid recurrence of polyps after subtotal colectomy argues in favor of performing proctocolectomy with preservation of anal sphincter function (restorative proctocolectomy) at the time of initial surgery. Patients with a small number of polyps may choose instead to undergo periodic colonoscopy with colonoscopic polypectomy. Histologically, juvenile polyps were comprised primarily of stromal elements, often overlaid with a thin layer of normal-appearing epithelium that was easily traumatized. The proliferative changes seen in adenomas were notably absent. The gross appearance of the surface was smooth, and cystic spaces containing retained mucus were often seen when the polyp was sectioned. The stock was thin and many of these polyps slough spontaneously. </p><p>Sharma et al. (1995) described the clinical and pathologic features of affected members in a large family with juvenile polyposis. Five living affected members had typical juvenile colonic polyps as well as atypical lobulated polyps with adenomatous change in the rectosigmoid area. Four members of the family had died of colonic malignancy between ages 30 and 55. </p><p>The presence of both juvenile polyposis and hereditary hemorrhagic telangiectasia (HHT) in an affected individual defines the syndrome of juvenile polyposis and HHT (JPHT; 175050). Gallione et al. (2004) described patients from 7 unrelated families meeting the diagnostic criteria for juvenile polyposis and HHT and carrying mutations in the MADH4 gene (SMAD4; 600993). The severity (pulmonary and hepatic arteriovenous malformations, cerebral involvement) and often early onset of HHT symptoms in these patients argue in favor of systemic screening for visceral manifestations in juvenile polyposis patients with MADH4 mutations (Gallione et al., 2004). </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>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Exclusion of the APC, MCC, and PTEN Genes</em></strong></p><p>
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In a family with juvenile polyposis syndrome, Leggett et al. (1993) excluded linkage to the APC (611731) and MCC (159350) genes. </p><p>Jacoby et al. (1997) reported a patient with juvenile polyposis and multiple congenital anomalies who had a de novo interstitial deletion of chromosome 10 between bands 10q22.3 and 10q24.1 (601242). Other clinical features included short stature, short hands and feet, broad nasal tip and long philtrum, widely spaced canthi, hypoplastic ears, small head, and redundant neck skin. There were also a small umbilical hernia, hypoplastic oblique muscles with bilateral abdominal bulging laterally, and prominent venous patterning on thorax and abdomen. Motor and language skills were developmentally delayed. Marsh et al. (1997) commented that the JPS locus is probably located between markers D10S219 and D10S1696, and that Cowden disease maps between markers D10S215 and D10S564, a region telomeric of the JPS region. </p><p>Marsh et al. (1997) used microsatellite markers spanning the 10q22-q24 region to compute multipoint lod scores in 8 informative families with JPS. Lod scores of less than -2.0 were generated for the entire region, thus excluding the PTEN gene and any other genes within the flanking 20-cM interval as candidate loci for familial JPS under their statistical models. In addition, analysis of PTEN using a combination of denaturing gradient gel electrophoresis and direct sequencing was unsuccessful in identifying a germline mutation in 14 families with JPS and 11 sporadic cases. Marsh et al. (1997) concluded that at least a proportion of JPS cases are not caused by germline PTEN alterations. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In patients with juvenile intestinal polyposis, Howe et al. (1998) demonstrated different heterozygous mutations in the SMAD4 gene (600993.0005-600993.0007). </p><p>Houlston et al. (1998) analyzed 8 families in which members had juvenile polyposis syndrome, looking for linkage to DPC4 (SMAD4). Overall, there was no evidence for linkage to DPC4; linkage could be excluded in 2 of the 8 pedigrees and was unlikely in 2 others. They then tested these 8 families and 13 familial and sporadic JPS cases for germline mutations in DPC4. Only 1 germline DPC4 mutation was found in a familial JPS patient with a pedigree unsuitable for linkage analysis. Houlston et al. (1998) concluded that the DPC4 gene is the site of the causative mutation in a minority of cases. </p><p>Howe et al. (2001) demonstrated mutations in the BMPR1A gene (601299.0001-601299.0004) in juvenile polyposis kindreds in which a genomewide screen had demonstrated mapping to 10q22-q23. </p><p>In 77 different familial and sporadic cases of JPS, Howe et al. (2004) identified germline MADH4 mutations in 14 cases (18.2%) and BMPR1A mutations in 16 cases (20.8%). No mutations were found in BMPR1B (603248), BMPR2 (600799), or ACVR1 (102576) in the 32 MADH4 and BMPR1A mutation-negative cases. The authors noted that because mutations were not found in more than half of the patients with JPS, either additional predisposing genes remain to be discovered or alternative means of inactivation of the 2 known genes account for these cases. </p><p>Shikata et al. (2005) identified a heterozygous mutation in the SMAD4 gene (600993.0007) in a Japanese woman with juvenile polyposis restricted to the stomach. No polyps were identified in the intestine. She also had a pulmonary arteriovenous malformation. The same mutation had previously been identified in a patient with multiple colonic polyps at the age of 6 years. The findings confirmed that juvenile gastric polyposis is a phenotype of the juvenile polyposis syndrome. </p><p>Sweet et al. (2005) sequenced the ENG gene (131195) in 14 patients with JPS who were negative for mutation in the SMAD4 and BMPR1A genes and identified germline missense mutations in the ENG gene in 2 patients, respectively. The mutations were not found in 105 North American controls. Neither patient had abnormalities in skin pigmentation or features consistent with a diagnosis of HHT; however, both patients had JPS of unusually early onset (age 3 and 5 years, respectively). </p><p>In 3 of 31 patients with JPS who were negative for mutations in the SMAD4 and BMPR1A genes, Howe et al. (2007) identified 2 different nonsynonymous substitutions that had been previously identified as polymorphisms in patients with HTT. The 3 patients did not have clinical manifestations or a family history of HHT or upper gastrointestinal tract polyps, and had a mean age of 7.4 years versus 14.4 years for those without ENG mutations. Howe et al. (2007) stated that their findings did not confirm the suggestion that the ENG gene predisposes for JPS. </p><p><strong><em>Exclusion of the PTEN Gene</em></strong></p><p>
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Olschwang et al. (1998) reported 3 patients with 'juvenile polyposis coli' and mutations in the PTEN gene (see 601728.0009-601728.0011). However, Eng and Peacocke (1998) questioned the role of PTEN mutations in the juvenile polyposis syndrome. They pointed out that 3 groups (Marsh et al., 1997; Riggins et al., 1997; Howe et al., 1998) had found no evidence of germline PTEN mutations in 21 JPS families and 16 sporadic cases, and power calculations indicated that if 10% of JPS cases were due to germline PTEN mutations, there should have been a 0.99 likelihood of detecting at least 1 mutation among these 37 cases. Eng and Peacocke (1998) and Eng and Ji (1998) suggested further that the 3 patients found by Olschwang et al. (1998) to have germline PTEN mutations had either Cowden disease or Bannayan-Zonana syndrome; a 74-year-old man had manifestations they interpreted as suggestive of Cowden disease, and the 2 children may not have yet demonstrated features of Cowden disease, which has a penetrance well below 10% under 15 years of age (Nelen et al., 1996). </p><p>In a long review of the PTEN gene, Waite and Eng (2002) reviewed the evidence that juvenile polyposis syndrome is not one of the so-called PTEN hamartoma-tumor syndromes (PHTS). Lynch et al. (1997) referred to germline mutations in individuals with JPS, but it was obvious to Waite and Eng (2002), from the text, that all of the individuals had Cowden syndrome. Kurose et al. (1999) provided a single hospital-based series that looked for germline PTEN mutations in JPS. They identified 1 individual with a germline PTEN mutation, but on reexamination, classic cutaneous features of Cowden syndrome were found. PTEN was formally excluded as a JPS-susceptibility gene by Marsh et al. (1997) and it is known that germline mutations in MADH4 (600993) on 18q and BMPR1A (601299) on 10q account for 40 to 60% of JPS. Waite and Eng (2002) concluded that discovery of a germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Friedl et al. (2002) examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in 7 patients (24%) and BMPR1A mutations in 5 (17%). A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This, they claimed, was the first genotype-phenotype correlation observed in JPS. </p><p>Handra-Luca et al. (2005) identified mutations in 14 (33%) of 42 patients with juvenile polyposis syndrome: 5 in the BMPR1A gene and 9 in the SMAD4 gene. Five of 9 patients with SMAD4 mutations had high-grade adenomatous lesions, whereas no patients with BMPR1A mutation had high-grade adenomatous lesions, and only 1 patient with a BMPR1A mutation had low-grade adenomas. There were malformative vessels within the stromal components of all SMAD4-related polyps when the mutation involved codons prior to position 423; no BMPR1A-related polyps had malformative vessels. Polyps in SMAD4-mutation carriers were seen in the upper and lower digestive tracts; polyps in BMPR1A mutation carriers were exclusively located in the colorectum. Handra-Luca et al. (2005) concluded that SMAD4 germline mutations are responsible for a more aggressive phenotype in patients with JPS. </p><p>Aretz et al. (2007) analyzed the SMAD4 and BMPR1A genes in 80 unrelated patients, 65 with typical JPS and 15 suspected of having JPS, and identified point mutations in 30 (46% of patients with typical JPS) and large deletions in 9 (14% of typical JPS). Among the 27 mutation carriers not previously reported by Friedl et al. (2002), 11 (69%) of 16 patients with SMAD4 mutations had gastric polyposis versus none of 11 patients with BMPR1A mutations (p less than 0.01); all 7 cases of gastric cancer occurred in 3 families with SMAD4 mutations. Including previously reported patients, 5 (22%) of 23 patients with SMAD mutations had hereditary hemorrhagic telangiectasia (see 175050); HHT was not seen in patients with BMPR1A mutations. </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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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>Because the polyps are not limited to the colon, 'juvenile intestinal polyposis' appears to be a better designation than 'juvenile polyposis coli.'</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>Animal Model</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>Haramis et al. (2004) used mouse models to demonstrate that bone morphogenic protein-4 (BMP4; 112262) expression occurs exclusively in the intravillus mesenchyme of the intestine. Villus epithelial cells respond to the BMP signal. Inhibition of BMP signaling by transgenic expression of Noggin (602991) resulted in the formation of numerous ectopic crypt units perpendicular to the crypt-villus axis. These changes were similar to the intestinal histopathology of patients with the cancer predisposition syndrome juvenile polyposis, including the frequent occurrence of intraepithelial neoplasia. Many juvenile polyposis cases are known to harbor mutations in BMP pathway genes. Haramis et al. (2004) concluded that intestinal BMP signaling represses de novo crypt formation and polyp growth. </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>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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Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, M. M., Loff, S., Back, W., Kaufmann, A., Keller, K.-M., Blaas, S. H., Siebert, R., Vogt, S., Spranger, S., Holinski-Feder, E., Sunde, L., Propping, P., Friedl, W.
|
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<strong>High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome.</strong>
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J. Med. Genet. 44: 702-709, 2007.
|
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|
[PubMed: 17873119]
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|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2007.052506]
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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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Eng, C., Ji, H.
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<strong>Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters.</strong>
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Am. J. Hum. Genet. 62: 1020-1022, 1998.
|
|
|
|
|
|
[PubMed: 9545417]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301847]
|
|
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</p>
|
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</li>
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|
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<li>
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<p class="mim-text-font">
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Eng, C., Peacocke, M.
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<strong>PTEN and inherited hamartoma-cancer syndromes. (Letter)</strong>
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Nature Genet. 19: 223 only, 1998.
|
|
|
|
|
|
[PubMed: 9662392]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/897]
|
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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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Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., Sutter, C., Weber, R. G., Pistorius, S., Burger, B., Propping, P.
|
|
<strong>Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.</strong>
|
|
Hum. Genet. 111: 108-111, 2002.
|
|
|
|
|
|
[PubMed: 12136244]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-002-0748-9]
|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Gallione, C. J., Repetto, G. M., Legius, E., Rustgi, A. K., Schelley, S. L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C. J. J., Marchuk, D. A.
|
|
<strong>A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).</strong>
|
|
Lancet 363: 852-859, 2004.
|
|
|
|
|
|
[PubMed: 15031030]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/S0140-6736(04)15732-2]
|
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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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Gathright, J. B., Jr., Cofer, T. W., Jr.
|
|
<strong>Familial incidence of juvenile polyposis coli.</strong>
|
|
Surg. Gynec. Obstet. 138: 185-188, 1974.
|
|
|
|
|
|
[PubMed: 4544011]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
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|
|
<li>
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<p class="mim-text-font">
|
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Gorlin, R. J., Cohen, M. M., Jr., Condon, L. M., Burke, B. A.
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<strong>Bannayan-Riley-Ruvalcaba syndrome.</strong>
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|
Am. J. Med. Genet. 44: 307-314, 1992.
|
|
|
|
|
|
[PubMed: 1336932]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320440309]
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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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Grosfeld, J. L., West, K. W.
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<strong>Generalized juvenile polyposis coli: clinical management based on long-term observations.</strong>
|
|
Arch. Surg. 121: 530-534, 1986.
|
|
|
|
|
|
[PubMed: 3707330]
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|
|
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[Full Text: https://doi.org/10.1001/archsurg.1986.01400050040005]
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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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Haggitt, R. C., Pitcock, J. A.
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<strong>Familial juvenile polyposis of the colon.</strong>
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Cancer 26: 1232-1238, 1970.
|
|
|
|
|
|
[PubMed: 5483654]
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[Full Text: https://doi.org/10.1002/1097-0142(197012)26:6<1232::aid-cncr2820260609>3.0.co;2-8]
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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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Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Flejou, J.-F., Thomas, G., Olschwang, S.
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|
<strong>Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.</strong>
|
|
Am. J. Med. Genet. 138A: 113-117, 2005.
|
|
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|
|
|
[PubMed: 16152648]
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[Full Text: https://doi.org/10.1002/ajmg.a.30897]
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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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Haramis, A.-P. G., Begthel, H., van den Born, M., van Es, J., Jonkheer, S., Offerhaus, G. J. A., Clevers, H.
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<strong>De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine.</strong>
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Science 303: 1684-1686, 2004.
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[PubMed: 15017003]
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|
|
[Full Text: https://doi.org/10.1126/science.1093587]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Houlston, R., Bevan, S., Williams, A., Young, J., Dunlop, M., Rozen, P., Eng, C., Markie, D., Woodford-Richens, K., Rodriguez-Bigas, M. A., Leggett, B., Neale, K., Phillips, R., Sheridan, E., Hodgson, S., Iwama, T., Eccles, D., Bodmer, W., Tomlinson, I.
|
|
<strong>Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.</strong>
|
|
Hum. Molec. Genet. 7: 1907-1912, 1998.
|
|
|
|
|
|
[PubMed: 9811934]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.12.1907]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., Vogelstein, B.
|
|
<strong>Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.</strong>
|
|
Nature Genet. 28: 184-187, 2001.
|
|
|
|
|
|
[PubMed: 11381269]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/88919]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Haidle, J. L., Lal, G., Bair, J., Song, C., Pechman, B., Chinnathambi, S., Lynch, H. T.
|
|
<strong>ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. (Letter)</strong>
|
|
Clin. Genet. 71: 91-92, 2007.
|
|
|
|
|
|
[PubMed: 17204053]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00734.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Ringold, J. C., Summers, R. W., Mitros, F. A., Nishimura, D. Y., Stone, E. M.
|
|
<strong>A gene for familial juvenile polyposis maps to chromosome 18q21.1.</strong>
|
|
Am. J. Hum. Genet. 62: 1129-1136, 1998.
|
|
|
|
|
|
[PubMed: 9545410]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301840]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Jarvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., Aaltonen, L. A.
|
|
<strong>Mutations in the SMAD4/DPC4 gene in juvenile polyposis.</strong>
|
|
Science 280: 1086-1088, 1998.
|
|
|
|
|
|
[PubMed: 9582123]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.280.5366.1086]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Howe, J. R., Sayed, M. G., Ahmed, A. F., Ringold, J., Larsen-Haidle, J., Merg, A., Mitros, F. A., Vaccaro, C. A., Petersen, G. M., Giardiello, F. M., Tinley, S. T., Aaltonen, L. A., Lynch, H. T.
|
|
<strong>The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.</strong>
|
|
J. Med. Genet. 41: 484-491, 2004.
|
|
|
|
|
|
[PubMed: 15235019]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2004.018598]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacoby, R. F., Schlack, S., Sekhon, G., Laxova, R.
|
|
<strong>Del(10)(q22.3q24.1) associated with juvenile polyposis.</strong>
|
|
Am. J. Med. Genet. 70: 361-364, 1997.
|
|
|
|
|
|
[PubMed: 9182775]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<361::aid-ajmg6>3.0.co;2-w]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kurose, K., Araki, T., Matsunaka, T., Takada, Y., Emi, M.
|
|
<strong>Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. (Letter)</strong>
|
|
Am. J. Hum. Genet. 64: 308-310, 1999.
|
|
|
|
|
|
[PubMed: 9915974]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302207]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leggett, B. A., Thomas, L. R., Knight, N., Healey, S., Chenevix-Trench, G., Searle, J.
|
|
<strong>Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis.</strong>
|
|
Gastroenterology 105: 1313-1316, 1993.
|
|
|
|
|
|
[PubMed: 8224634]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0016-5085(93)90134-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lynch, E. D., Ostermeyer, E. A., Lee, M. K., Arena, J. F., Ji, H., Dann, J., Swisshelm, K., Suchard, D., MacLeod, P. M., Kvinnsland, S., Gjertsen, B. T., Heimdal, K., Lubs, H., Moller, P., King, M.-C.
|
|
<strong>Inherited mutations in PTEN that are associated with breast cancer, Cowden syndrome, and juvenile polyposis.</strong>
|
|
Am. J. Hum. Genet. 61: 1254-1260, 1997.
|
|
|
|
|
|
[PubMed: 9399897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301639]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marsh, D. J., Dahia, P. L. M., Zheng, Z., Liaw, D., Parsons, R., Gorlin, R. J., Eng, C.
|
|
<strong>Germline mutations in PTEN are present in Bannayan-Zonana syndrome. (Letter)</strong>
|
|
Nature Genet. 16: 333-334, 1997.
|
|
|
|
|
|
[PubMed: 9241266]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0897-333]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marsh, D. J., Roth, S., Lunetta, K. L., Hemminki, A., Dahia, P. L., Sistonen, P., Zheng, Z., Caron, S., van Orsouw, N. J., Bodmer, W. F., Cottrell, S. E., Dunlop, M. G., and 13 others.
|
|
<strong>Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.</strong>
|
|
Cancer Res. 57: 5017-5021, 1997.
|
|
|
|
|
|
[PubMed: 9371495]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelen, M. R., Padberg, G. W., Peeters, E. A., Lin, A. Y., van den Helm, B., Frants, R. R., Coulon, V., Goldstein, A. M., van Reen, M. M., Easton, D. F., Eeles, R. A., Hodgsen, S., and 10 others.
|
|
<strong>Localization of the gene for Cowden disease to chromosome 10q22-23.</strong>
|
|
Nature Genet. 13: 114-116, 1996.
|
|
|
|
|
|
[PubMed: 8673088]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0596-114]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Olschwang, S., Serova-Sinilnikova, O. M., Lenoir, G. M., Thomas, G.
|
|
<strong>PTEN germ-line mutations in juvenile polyposis coli. (Letter)</strong>
|
|
Nature Genet. 18: 12-14, 1998.
|
|
|
|
|
|
[PubMed: 9425889]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0198-12]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ravitch, M. M.
|
|
<strong>Polypoid adenomatosis of entire gastro-intestinal tract.</strong>
|
|
Ann. Surg. 128: 283-298, 1948.
|
|
|
|
|
|
[PubMed: 17859198]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00000658-194808000-00011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ravitch, M. M.
|
|
<strong>Personal Communication.</strong>
|
|
Pittsburgh, Pa. 1974.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Riggins, G. J., Hamilton, S. R., Kinzler, K. W., Vogelstein, B.
|
|
<strong>Normal PTEN gene in juvenile polyposis.</strong>
|
|
J. Neg. Observ. Genet. Oncol. 1: 1, 1997. Note: Electronic Article.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rozen, P., Baratz, M.
|
|
<strong>Familial juvenile colonic polyposis with associated colon cancer.</strong>
|
|
Cancer 49: 1500-1503, 1982.
|
|
|
|
|
|
[PubMed: 7059958]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1097-0142(19820401)49:7<1500::aid-cncr2820490732>3.0.co;2-o]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sassatelli, R., Bertoni, G., Serra, L., Bedogni, G., Ponz de Leon, M.
|
|
<strong>Generalized juvenile polyposis with mixed pattern and gastric cancer.</strong>
|
|
Gastroenterology 104: 910-915, 1993.
|
|
|
|
|
|
[PubMed: 8440442]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0016-5085(93)91031-c]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scott-Conner, C. E. H., Hausmann, M., Hall, T. J., Skelton, D. S., Anglin, B. L., Subramony, C.
|
|
<strong>Familial juvenile polyposis: patterns of recurrence and implications for surgical management.</strong>
|
|
J. Am. Coll. Surg. 181: 407-413, 1995.
|
|
|
|
|
|
[PubMed: 7582207]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sharma, A. K., Sharma, S. S., Mathur, P.
|
|
<strong>Familial juvenile polyposis with adenomatous-carcinomatous change.</strong>
|
|
J. Gastroent. Hepatol. 10: 131-134, 1995.
|
|
|
|
|
|
[PubMed: 7787156]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1440-1746.1995.tb01066.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shikata, K., Kukita, Y., Matsumoto, T., Esaki, M., Yao, T., Mochizuki, Y., Hayashi, K., Iida, M.
|
|
<strong>Gastric juvenile polyposis associated with germline SMAD4 mutation.</strong>
|
|
Am. J. Med. Genet. 134A: 326-329, 2005.
|
|
|
|
|
|
[PubMed: 15754356]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30482]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smilow, P. C., Pryor, C. A., Jr., Swinton, N. W.
|
|
<strong>Juvenile polyposis coli: a report of three patients in three generations of one family.</strong>
|
|
Dis. Colon Rectum 9: 248-254, 1966.
|
|
|
|
|
|
[PubMed: 5940525]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02616919]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Soper, R. T.
|
|
<strong>Discussion.</strong>
|
|
Arch. Surg. 121: 534, 1986.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Subramony, C., Scott-Conner, C. E. H., Skelton, D. S., Hall, T. J.
|
|
<strong>Familial juvenile polyposis. A study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma.</strong>
|
|
Am. J. Clin. Path. 102: 91-97, 1994.
|
|
|
|
|
|
[PubMed: 8037173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/ajcp/102.1.91]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sweet, K., Willis, J., Zhou, X.-P., Gallione, C., Sawada, T., Alhopuro, P., Khoo, S. K., Patocs, A., Martin, C., Bridgeman, S., Heinz, J., Pilarski, R., Lehtonen, R., Prior, T. W., Frebourg, T., Teh, B. T., Marchuk, D. A., Aaltonen, L. A., Eng, C.
|
|
<strong>Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.</strong>
|
|
JAMA 294: 2465-2473, 2005.
|
|
|
|
|
|
[PubMed: 16287957]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/jama.294.19.2465]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Veale, A. M., McColl, I., Bussey, H. J. R., Morson, B. C.
|
|
<strong>Juvenile polyposis coli.</strong>
|
|
J. Med. Genet. 3: 5-16, 1966.
|
|
|
|
|
|
[PubMed: 5911834]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.3.1.5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Waite, K. A., Eng, C.
|
|
<strong>Protean PTEN: form and function.</strong>
|
|
Am. J. Hum. Genet. 70: 829-844, 2002.
|
|
|
|
|
|
[PubMed: 11875759]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/340026]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Walpole, I. R., Cullity, G.
|
|
<strong>Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas.</strong>
|
|
Am. J. Med. Genet. 32: 1-8, 1989.
|
|
|
|
|
|
[PubMed: 2705469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320320102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Watanabe, A., Nagashima, H., Motoi, M., Ogawa, K.
|
|
<strong>Familial juvenile polyposis of the stomach.</strong>
|
|
Gastroenterology 77: 148-151, 1979.
|
|
|
|
|
|
[PubMed: 447014]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yonemoto, R. H., Slayback, J. B., Byron, R. L., Jr., Rosen, R. B.
|
|
<strong>Familial polyposis of the entire gastrointestinal tract.</strong>
|
|
Arch. Surg. 99: 427-434, 1969.
|
|
|
|
|
|
[PubMed: 5808270]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archsurg.1969.01340160007003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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 : 1/7/2008<br>Marla J. F. O'Neill - updated : 3/9/2007<br>Cassandra L. Kniffin - updated : 10/2/2006<br>Victor A. McKusick - updated : 8/23/2006<br>Anne M. Stumpf - updated : 5/23/2006<br>Victor A. McKusick - updated : 3/9/2006<br>Cassandra L. Kniffin - updated : 10/25/2005<br>Marla J. F. O'Neill - updated : 8/27/2004<br>Ada Hamosh - updated : 4/12/2004<br>Victor A. McKusick - updated : 9/10/2002<br>Victor A. McKusick - updated : 4/12/2002<br>Victor A. McKusick - updated : 5/24/2001<br>Victor A. McKusick - updated : 3/11/1999<br>Victor A. McKusick - updated : 11/9/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 1/6/1998<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 7/31/1997<br>Victor A. McKusick - updated : 7/17/1997<br>Clair A. Francomano - updated : 5/15/1995
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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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|
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Victor A. McKusick : 6/2/1986
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