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<meta name="keywords" content="C0345893, bmpr1a, jip, jps, juvenile gastrointestinal polyposis, juvenile intestinal polyposis, juvenile multiple polyps syndrome, juvenile polyposis, juvenile polyposis coli, juvenile polyposis of infancy, juvenile polyposis of intestine, juvenile polyposis syndrome, juvenile polyposis, infantile, neoplastic process, pji, polyposis familial of entire gastrointestinal tract, polyposis juvenile intestinal, polyposis, familial, of entire gastrointestinal tract, polyposis, juvenile intestinal, smad4, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=87518
|
||
ConceptID=C0345893
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Juvenile polyposis syndrome<span class="h1sub">(JPS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87518</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0345893</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>JPS; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Juvenile polyposis syndrome (9273005); Juvenile polyposis of intestine (9273005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="BMPR1A - ID: 657 - NCBI Gene" href="/gene/657" class="medgenPMinfo">BMPR1A</a> (10q23.2); <a target="_blank" title="SMAD4 - ID: 4089 - NCBI Gene" href="/gene/4089" class="medgenPMinfo">SMAD4</a> (18q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017380" target="_blank">MONDO:0017380</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/174900" target="_blank">174900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2929">ORPHA2929</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1469" target="_blank">Juvenile Polyposis Syndrome</a></div><div>Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1469#jps.Summary" target="NBK1469">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.GeneReview_Scope" target="NBK1469">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Diagnosis" target="NBK1469">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Clinical_Characteristics" target="NBK1469">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Genetically_Related_Allelic_Disorder" target="NBK1469">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Differential_Diagnosis" target="NBK1469">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Management" target="NBK1469">Management</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Genetic_Counseling" target="NBK1469">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Resources" target="NBK1469">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Molecular_Genetics" target="NBK1469">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.Chapter_Notes" target="NBK1469">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1469#jps.References" target="NBK1469">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Joy Larsen Haidle | Suzanne P MacFarland | James R Howe <a href="/books/NBK1469" target="NBK1469" title="NCBI Bookshelf: Juvenile Polyposis Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />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).
|
||
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. <a target="_blank" href="http://www.omim.org/entry/174900">http://www.omim.org/entry/174900</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.<br /><br />Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome.<br /><br />Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood.<br /><br />Most juvenile polyps are benign, but there is a chance that polyps can become cancerous (malignant). It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract. The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer. <a target="_blank" href="https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome">https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7803"><div><strong>Abdominal pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7803</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0000737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7803">Feature record</a> | <a href="/medgen?term=%22Abdominal%20pain%22%5BClinical%20Features%5D%20OR%207803%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57692"><div><strong>Clubbing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57692</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0149651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57692">Feature record</a> | <a href="/medgen?term=%22Clubbing%22%5BClinical%20Features%5D%20OR%2057692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5481"><div><strong>Hematochezia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5481</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5481">Feature record</a> | <a href="/medgen?term=%22Hematochezia%22%5BClinical%20Features%5D%20OR%205481%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43940"><div><strong>Intussusception</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43940</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0021933</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43940">Feature record</a> | <a href="/medgen?term=%22Intussusception%22%5BClinical%20Features%5D%20OR%2043940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11151"><div><strong>Rectal prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the rectal mucous membrane through the anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11151">Feature record</a> | <a href="/medgen?term=%22Rectal%20prolapse%22%5BClinical%20Features%5D%20OR%2011151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20958"><div><strong>Neoplasm of stomach</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20958</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the stomach.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20958">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20stomach%22%5BClinical%20Features%5D%20OR%2020958%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68629"><div><strong>Gastric polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0236048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68629">Feature record</a> | <a href="/medgen?term=%22Gastric%20polyposis%22%5BClinical%20Features%5D%20OR%2068629%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82985"><div><strong>Duodenal adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82985</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0278804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant epithelial tumor with a glandular organization that originates in the duodenum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82985">Feature record</a> | <a href="/medgen?term=%22Duodenal%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2082985%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68694"><div><strong>Hypoalbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction in the concentration of albumin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68694">Feature record</a> | <a href="/medgen?term=%22Hypoalbuminemia%22%5BClinical%20Features%5D%20OR%2068694%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubbing</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoalbuminemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duodenal adenocarcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastric polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematochezia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intussusception</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of stomach</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rectal prolapse</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal pain</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0345893[DISCUI]&test_type=Clinical" ref="ncbi_uid=87518">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87518" target="_blank" href="/omim/174900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1469/" ref="ncbi_uid=87518">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87518" ref="ncbi_uid=87518">V</a></span></span><span class="TLline">Juvenile polyposis syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868081[DISCUI]&test_type=Clinical" ref="ncbi_uid=356898">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356898" target="_blank" href="/omim/174900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1469/" ref="ncbi_uid=356898">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356898" ref="ncbi_uid=356898">V</a></span></span><span class="TLline"><a href="/medgen/356898" ref="tree=GTR&ncbi_uid=356898&link_uid=356898" title="View MedGen record for 'Generalized juvenile polyposis/juvenile polyposis coli'">Generalized juvenile polyposis/juvenile polyposis coli</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1778573" ref="tree=GTR&ncbi_uid=1778573&link_uid=1778573" title="View MedGen record for 'Juvenile polyposis of infancy'">Juvenile polyposis of infancy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832942[DISCUI]&test_type=Clinical" ref="ncbi_uid=331400">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331400" target="_blank" href="/omim/175050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1351%20OR%20NBK1469)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331400">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331400" ref="ncbi_uid=331400">V</a></span></span><span class="TLline"><a href="/medgen/331400" ref="tree=GTR&ncbi_uid=331400&link_uid=331400" title="View MedGen record for 'Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome'">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="matched_ds">Juvenile polyposis syndrome</span><ul><li><span class="TLline"><a href="/medgen/356898" ref="tree=MeSH" title="MedGen record for Generalized juvenile polyposis/juvenile polyposis coli">Generalized juvenile polyposis/juvenile polyposis coli</a></span></li><li><span class="TLline"><a href="/medgen/1778573" ref="tree=MeSH" title="MedGen record for Juvenile polyposis of infancy">Juvenile polyposis of infancy</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21951&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Juvenile polyposis syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36925460">Hamartomatous polyps: Diagnosis, surveillance, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorji L,
|
||
Albrecht P</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2023 Feb 28;29(8):1304-1314.
|
||
doi: 10.3748/wjg.v29.i8.1304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36925460" target="_blank">36925460</a><a href="/pmc/articles/PMC10011967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768460">Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rebuzzi F,
|
||
Ulivi P,
|
||
Tedaldi G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 21;24(3)
|
||
doi: 10.3390/ijms24032137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768460" target="_blank">36768460</a><a href="/pmc/articles/PMC9916931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22juvenile%20polyposis%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (23)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389505">Genetics of Colorectal Cancer (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389505" target="_blank">26389505</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768460">Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rebuzzi F,
|
||
Ulivi P,
|
||
Tedaldi G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 21;24(3)
|
||
doi: 10.3390/ijms24032137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768460" target="_blank">36768460</a><a href="/pmc/articles/PMC9916931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29169633">Pathology and genetics of hereditary colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma H,
|
||
Brosens LAA,
|
||
Offerhaus GJA,
|
||
Giardiello FM,
|
||
de Leng WWJ,
|
||
Montgomery EA</span><br />
|
||
<span class="medgenPMjournal">Pathology</span>
|
||
2018 Jan;50(1):49-59.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1016/j.pathol.2017.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29169633" target="_blank">29169633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28836046">Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson SB,
|
||
Villano NP,
|
||
Benhammou JN,
|
||
Lewis M,
|
||
Pisegna JR,
|
||
Padua D</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2017 Oct;62(10):2623-2630.
|
||
Epub 2017 Aug 23
|
||
doi: 10.1007/s10620-017-4719-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28836046" target="_blank">28836046</a><a href="/pmc/articles/PMC5641264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22171123">Juvenile polyposis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brosens LA,
|
||
Langeveld D,
|
||
van Hattem WA,
|
||
Giardiello FM,
|
||
Offerhaus GJ</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2011 Nov 28;17(44):4839-44.
|
||
doi: 10.3748/wjg.v17.i44.4839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22171123" target="_blank">22171123</a><a href="/pmc/articles/PMC3235625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (131)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37659672">Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jelsig AM,
|
||
Wullum L,
|
||
Kuhlmann TP,
|
||
Ousager LB,
|
||
Burisch J,
|
||
Karstensen JG</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Dec;165(6):1565-1567.e2.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1053/j.gastro.2023.08.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37659672" target="_blank">37659672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36066479">Juvenile Polyposis of the Stomach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka K,
|
||
Umeda Y,
|
||
Nakagawa H</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2023 Jan 1;118(1):16.
|
||
Epub 2022 Sep 1
|
||
doi: 10.14309/ajg.0000000000001990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36066479" target="_blank">36066479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35988963">Familial and hereditary gastric cancer, an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carneiro F</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2022 Jun-Aug;58-59:101800.
|
||
Epub 2022 May 4
|
||
doi: 10.1016/j.bpg.2022.101800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35988963" target="_blank">35988963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22171123">Juvenile polyposis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brosens LA,
|
||
Langeveld D,
|
||
van Hattem WA,
|
||
Giardiello FM,
|
||
Offerhaus GJ</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2011 Nov 28;17(44):4839-44.
|
||
doi: 10.3748/wjg.v17.i44.4839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22171123" target="_blank">22171123</a><a href="/pmc/articles/PMC3235625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (161)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722065">Periprosthetic hip infection in octogenarians : a single institution experience of 33 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karczewski D,
|
||
Schönnagel L,
|
||
Hipfl C,
|
||
Akgün D,
|
||
Hardt S</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2023 Feb;105-B(2):135-139.
|
||
doi: 10.1302/0301-620X.105B2.BJJ-2022-1035.R1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722065" target="_blank">36722065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35460668">Potential impact of sirolimus on gastric polyposis burden in juvenile polyposis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AD,
|
||
Burke CA,
|
||
Bhatt A</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2022 Aug;96(2):374-375.
|
||
Epub 2022 Apr 20
|
||
doi: 10.1016/j.gie.2022.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35460668" target="_blank">35460668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25252015">A full stomach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kager LM,
|
||
Meijer SL,
|
||
Bastiaansen BA</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2014 Nov;147(5):974-6.
|
||
Epub 2014 Sep 20
|
||
doi: 10.1053/j.gastro.2014.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25252015" target="_blank">25252015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20859198">Clinical cancer genetics: Part I: Gastrointestinal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pollock J,
|
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Welsh JS</span><br />
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<span class="medgenPMjournal">Am J Clin Oncol</span>
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2011 Jun;34(3):332-6.
|
||
doi: 10.1097/COC.0b013e3181dea432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20859198" target="_blank">20859198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19412013">Efficacy of meloxicam in a patient with juvenile polyposis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangiantini F,
|
||
Lorusso M,
|
||
Pozzi E,
|
||
Bronzini F,
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Brondello C,
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Salvestrini C,
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<span class="bold">PMID: </span><a href="/pubmed/19412013" target="_blank">19412013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36925460">Hamartomatous polyps: Diagnosis, surveillance, and management.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorji L,
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Albrecht P</span><br />
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<span class="medgenPMjournal">World J Gastroenterol</span>
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2023 Feb 28;29(8):1304-1314.
|
||
doi: 10.3748/wjg.v29.i8.1304.
|
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<span class="bold">PMID: </span><a href="/pubmed/36925460" target="_blank">36925460</a><a href="/pmc/articles/PMC10011967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26855533">Clinical and molecular features of young-onset colorectal cancer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ballester V,
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Rashtak S,
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Boardman L</span><br />
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<span class="medgenPMjournal">World J Gastroenterol</span>
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2016 Feb 7;22(5):1736-44.
|
||
doi: 10.3748/wjg.v22.i5.1736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26855533" target="_blank">26855533</a><a href="/pmc/articles/PMC4724605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
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Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
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American College of Gastroenterology</span><br />
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<span class="medgenPMjournal">Am J Gastroenterol</span>
|
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2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
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doi: 10.1038/ajg.2014.435.
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<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25252015">A full stomach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kager LM,
|
||
Meijer SL,
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||
Bastiaansen BA</span><br />
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||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2014 Nov;147(5):974-6.
|
||
Epub 2014 Sep 20
|
||
doi: 10.1053/j.gastro.2014.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25252015" target="_blank">25252015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22826269">Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stadler ZK,
|
||
Salo-Mullen E,
|
||
Zhang L,
|
||
Shia J,
|
||
Bacares R,
|
||
Power DG,
|
||
Weiser M,
|
||
Coit D,
|
||
Robson ME,
|
||
Offit K,
|
||
Schattner M</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2012 Sep 1;30(25):e229-32.
|
||
Epub 2012 Jul 23
|
||
doi: 10.1200/JCO.2012.41.7949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22826269" target="_blank">22826269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (49)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722065">Periprosthetic hip infection in octogenarians : a single institution experience of 33 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karczewski D,
|
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Schönnagel L,
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Hipfl C,
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||
Akgün D,
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||
Hardt S</span><br />
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<span class="medgenPMjournal">Bone Joint J</span>
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||
2023 Feb;105-B(2):135-139.
|
||
doi: 10.1302/0301-620X.105B2.BJJ-2022-1035.R1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722065" target="_blank">36722065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36553592">Strong Hereditary Predispositions to Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hryhorowicz S,
|
||
Kaczmarek-Ryś M,
|
||
Lis-Tanaś E,
|
||
Porowski J,
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||
Szuman M,
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||
Grot N,
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||
Kryszczyńska A,
|
||
Paszkowski J,
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||
Banasiewicz T,
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||
Pławski A</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Dec 10;13(12)
|
||
doi: 10.3390/genes13122326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36553592" target="_blank">36553592</a><a href="/pmc/articles/PMC9777620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35988963">Familial and hereditary gastric cancer, an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carneiro F</span><br />
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||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2022 Jun-Aug;58-59:101800.
|
||
Epub 2022 May 4
|
||
doi: 10.1016/j.bpg.2022.101800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35988963" target="_blank">35988963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22826269">Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stadler ZK,
|
||
Salo-Mullen E,
|
||
Zhang L,
|
||
Shia J,
|
||
Bacares R,
|
||
Power DG,
|
||
Weiser M,
|
||
Coit D,
|
||
Robson ME,
|
||
Offit K,
|
||
Schattner M</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2012 Sep 1;30(25):e229-32.
|
||
Epub 2012 Jul 23
|
||
doi: 10.1200/JCO.2012.41.7949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22826269" target="_blank">22826269</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (50)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36265529">Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AD,
|
||
Gupta A,
|
||
Mehta N,
|
||
Heald B,
|
||
Macaron C,
|
||
Liska D,
|
||
Bhatt A,
|
||
Burke CA</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2023 Mar;97(3):407-414.e1.
|
||
Epub 2022 Oct 18
|
||
doi: 10.1016/j.gie.2022.10.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36265529" target="_blank">36265529</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28836046">Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson SB,
|
||
Villano NP,
|
||
Benhammou JN,
|
||
Lewis M,
|
||
Pisegna JR,
|
||
Padua D</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2017 Oct;62(10):2623-2630.
|
||
Epub 2017 Aug 23
|
||
doi: 10.1007/s10620-017-4719-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28836046" target="_blank">28836046</a><a href="/pmc/articles/PMC5641264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20polyposis%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (53)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (52)</a></li>
|
||
<li><a href="/gtr/tests?term=C0345893%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0345893%5bDISCUI%5d" target="_blank">See all (69)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22juvenile%20polyposis%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Juvenile%20polyposis%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600993%20601299" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=657[geneid]" target="_blank">View BMPR1A variations in ClinVar</a></li><li><a href="/clinvar/?term=4089[geneid]" target="_blank">View SMAD4 variations in ClinVar</a></li><li><a href="/nuccore/221139816,260593647" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=174900" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Juvenile+polyposis+syndrome/3939" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/juvenile_polyposis_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Juvenile%20polyposis%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/juvenile-polyposis-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3065/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed?term=Juvenile%20polyposis%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=87518" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=87518" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d68b9b84f3725e59a699d9">Juvenile polyposis syndrome</a>
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<div class="ralinkpop offscreen_noflow">PCSK9 proprotein convertase subtilisin/kexin type 9 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:255738</div></div>
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