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<meta name="keywords" content="C0031269, colonic hamartomatous polyp, disease or syndrome, gastric peutz-jeghers polyp, hamartomatous intestinal polyposes, hamartomatous intestinal polyposis, intestinal polyposes, hamartomatous, intestinal polyposis, hamartomatous, jeghers-peutz syndrome, lentiginoses, perioral, lentiginosis, perioral, perioral lentiginoses, perioral lentiginosis, periorificial lentiginosis syndrome, periorificial lentiginosis syndromes, peutz jegher's syndrome, peutz jeghers colon polyp, peutz jeghers polyposis, peutz jeghers syndrome, peutz's syndrome, peutz-jegher syndrome, peutz-jegher's syndrome, peutz-jeghers polyp of small intestine, peutz-jeghers polyposis, peutz-jeghers small bowel hamartoma, peutz-jeghers syndrome, pjs, pjs - peutz-jeghers syndrome, polyposes, hamartomatous intestinal, polyposis, hamartomatous intestinal, polyposis, peutz-jeghers, polyps and spots syndrome, polyps-and-spots syndrome, polyps-and-spots syndromes, stk11, syndrome, periorificial lentiginosis, syndrome, peutz-jegher's, syndrome, peutz-jeghers, syndrome, polyps-and-spots, syndromes, periorificial lentiginosis, syndromes, polyps-and-spots, 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="Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=18404
|
||
ConceptID=C0031269
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Peutz-Jeghers syndrome<span class="h1sub">(PJS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18404</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:">C0031269</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; PJS; POLYPOSIS, HAMARTOMATOUS INTESTINAL; POLYPS-AND-SPOTS SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Perioral lentiginosis (54411001); Peutz-Jeghers polyposis (54411001); PJS - Peutz-Jeghers syndrome (54411001); Peutz-Jeghers syndrome (54411001); Periorificial lentiginosis syndrome (54411001)</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">Gene (location):<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="STK11 - ID: 6794 - NCBI Gene" href="/gene/6794" class="medgenPMinfo">STK11</a> (19p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008280" target="_blank">MONDO:0008280</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/175200" target="_blank">175200</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=2869">ORPHA2869</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">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1266" target="_blank">Peutz-Jeghers Syndrome</a></div><div>Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated. [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/NBK1266#pjs.Summary" target="NBK1266">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Diagnosis" target="NBK1266">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Clinical_Characteristics" target="NBK1266">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Genetically_Related_Allelic_Disorder" target="NBK1266">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Differential_Diagnosis" target="NBK1266">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Management" target="NBK1266">Management</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Genetic_Counseling" target="NBK1266">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Resources" target="NBK1266">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Molecular_Genetics" target="NBK1266">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.Chapter_Notes" target="NBK1266">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1266#pjs.References" target="NBK1266">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Thomas J McGarrity | Christopher I Amos | Maria J Baker <a href="/books/NBK1266" target="NBK1266" title="NCBI Bookshelf: Peutz-Jeghers Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms. <a target="_blank" href="http://www.omim.org/entry/175200">http://www.omim.org/entry/175200</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.<br /><br />Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.<br /><br />People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors. <a target="_blank" href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome">https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome</a></div></div>
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</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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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||
<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>
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||
<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>
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||
<div class="divPopper rprt" id="clin_12030"><div><strong>Neoplasm of uterus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12030</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.">C0042138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12030">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20uterus%22%5BClinical%20Features%5D%20OR%2012030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357406"><div><strong>Precocious puberty with Sertoli cell tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357406</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.">C1868007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/357406">Feature record</a> | <a href="/medgen?term=%22Precocious%20puberty%20with%20Sertoli%20cell%20tumor%22%5BClinical%20Features%5D%20OR%20357406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_474435"><div><strong>Hamartomatous polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>474435</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.">C3272802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/474435">Feature record</a> | <a href="/medgen?term=%22Hamartomatous%20polyposis%22%5BClinical%20Features%5D%20OR%20474435%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_14540"><div><strong>Ovarian cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14540</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.">C0029927</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The presence of one or more cysts of the ovary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14540">Feature record</a> | <a href="/medgen?term=%22Ovarian%20cyst%22%5BClinical%20Features%5D%20OR%2014540%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107952"><div><strong>Bladder polyp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107952</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.">C0586737</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal growth that projects from the mucous membrane of the urinary bladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107952">Feature record</a> | <a href="/medgen?term=%22Bladder%20polyp%22%5BClinical%20Features%5D%20OR%20107952%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374455"><div><strong>Abnormality of the ureter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374455</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.">C1840382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374455">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20ureter%22%5BClinical%20Features%5D%20OR%20374455%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3129"><div><strong>Clubbing of fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3129</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.">C0009080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Terminal broadening of the fingers (distal phalanges of the fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3129">Feature record</a> | <a href="/medgen?term=%22Clubbing%20of%20fingers%22%5BClinical%20Features%5D%20OR%203129%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_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_18279"><div><strong>Neoplasm of the pancreas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18279</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.">C0030297</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 pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18279">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20the%20pancreas%22%5BClinical%20Features%5D%20OR%2018279%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_57467"><div><strong>Gastrointestinal carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57467</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.">C0151544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57467">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20carcinoma%22%5BClinical%20Features%5D%20OR%2057467%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56232"><div><strong>Bloody diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56232</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.">C0151594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Passage of many stools containing blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56232">Feature record</a> | <a href="/medgen?term=%22Bloody%20diarrhea%22%5BClinical%20Features%5D%20OR%2056232%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_75632"><div><strong>Intestinal bleeding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75632</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.">C0267373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bleeding from the intestines.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75632">Feature record</a> | <a href="/medgen?term=%22Intestinal%20bleeding%22%5BClinical%20Features%5D%20OR%2075632%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108201"><div><strong>Biliary tract abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108201</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.">C0549613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the biliary tree.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108201">Feature record</a> | <a href="/medgen?term=%22Biliary%20tract%20abnormality%22%5BClinical%20Features%5D%20OR%20108201%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815091"><div><strong>Bile duct polyp</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815091</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.">C5706185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated growth from the the mucosa of the bile duct.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815091">Feature record</a> | <a href="/medgen?term=%22Bile%20duct%20polyp%22%5BClinical%20Features%5D%20OR%201815091%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57668"><div><strong>Iron deficiency anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57668</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.">C0162316</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57668">Feature record</a> | <a href="/medgen?term=%22Iron%20deficiency%20anemia%22%5BClinical%20Features%5D%20OR%2057668%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6524"><div><strong>Nasal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6524</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.">C0027430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6524">Feature record</a> | <a href="/medgen?term=%22Nasal%20polyposis%22%5BClinical%20Features%5D%20OR%206524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1690341"><div><strong>Oral melanotic macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1690341</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.">C5139352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1690341">Feature record</a> | <a href="/medgen?term=%22Oral%20melanotic%20macule%22%5BClinical%20Features%5D%20OR%201690341%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1686062"><div><strong>Labial melanotic macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1686062</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.">C5229936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1686062">Feature record</a> | <a href="/medgen?term=%22Labial%20melanotic%20macule%22%5BClinical%20Features%5D%20OR%201686062%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375013"><div><strong>Hypermelanotic macule</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375013</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.">C1842774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375013">Feature record</a> | <a href="/medgen?term=%22Hypermelanotic%20macule%22%5BClinical%20Features%5D%20OR%20375013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6694"><div><strong>Gynecomastia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6694</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.">C0018418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal development of large mammary glands in males resulting in breast enlargement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6694">Feature record</a> | <a href="/medgen?term=%22Gynecomastia%22%5BClinical%20Features%5D%20OR%206694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146260"><div><strong>Breast carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146260</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.">C0678222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146260">Feature record</a> | <a href="/medgen?term=%22Breast%20carcinoma%22%5BClinical%20Features%5D%20OR%20146260%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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iron deficiency anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1686062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Labial melanotic macule</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1690341" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oral melanotic macule</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubbing of fingers</a></span></li></ul></li><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gynecomastia</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_1815091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile duct polyp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108201" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary tract abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bloody diarrhea</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_57467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75632" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal bleeding</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_18279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of the pancreas</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">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the ureter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107952" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bladder polyp</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian cyst</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermelanotic macule</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">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_474435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hamartomatous polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of uterus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Precocious puberty with Sertoli cell tumor</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Clinical" ref="ncbi_uid=264172">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=264172">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=264172" ref="ncbi_uid=264172">V</a></span></span><span class="TLline"><a href="/medgen/264172" ref="tree=GTR&ncbi_uid=264172&link_uid=264172" title="View MedGen record for 'Breast neoplasm'">Breast neoplasm</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0858252[DISCUI]&test_type=Clinical" ref="ncbi_uid=167809">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=167809" ref="ncbi_uid=167809">V</a></span></span><span class="TLline"><a href="/medgen/167809" ref="tree=GTR&ncbi_uid=167809&link_uid=167809" title="View MedGen record for 'Breast adenocarcinoma'">Breast adenocarcinoma</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=C0006142[DISCUI]&test_type=Clinical" ref="ncbi_uid=651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=651" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=651" ref="ncbi_uid=651">V</a></span></span><span class="TLline"><a href="/medgen/651" ref="tree=GTR&ncbi_uid=651&link_uid=651" title="View MedGen record for 'Malignant tumor of breast'">Malignant tumor of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346153[DISCUI]&test_type=Clinical" ref="ncbi_uid=87542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87542" target="_blank" href="/omim/114480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=87542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87542" ref="ncbi_uid=87542">V</a></span></span><span class="TLline"><a href="/medgen/87542" ref="tree=GTR&ncbi_uid=87542&link_uid=87542" title="View MedGen record for 'Familial cancer of breast'">Familial cancer of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004135[DISCUI]&test_type=Clinical" ref="ncbi_uid=439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=439" target="_blank" href="/omim/208900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK26468)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=439">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=439" ref="ncbi_uid=439">V</a></span></span><span class="TLline"><a href="/medgen/439" ref="tree=GTR&ncbi_uid=439&link_uid=439" title="View MedGen record for 'Ataxia-telangiectasia syndrome'">Ataxia-telangiectasia syndrome</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=C4016951[DISCUI]&test_type=Clinical" ref="ncbi_uid=865388">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=865388">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=865388" target="_blank" href="/omim/605882">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=865388" ref="ncbi_uid=865388">V</a></span></span><span class="TLline"><a href="/medgen/865388" ref="tree=GTR&ncbi_uid=865388&link_uid=865388" title="View MedGen record for 'Breast cancer, early-onset'">Breast cancer, early-onset</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=C1861906[DISCUI]&test_type=Clinical" ref="ncbi_uid=350535">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=350535">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350535" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350535" ref="tree=GTR&ncbi_uid=350535&link_uid=350535" title="View MedGen record for 'Breast cancer, familial male'">Breast cancer, familial male</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=C3469522[DISCUI]&test_type=Clinical" ref="ncbi_uid=854012">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=854012">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854012" target="_blank" href="/omim/176705">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854012" ref="ncbi_uid=854012">V</a></span></span><span class="TLline"><a href="/medgen/854012" ref="tree=GTR&ncbi_uid=854012&link_uid=854012" title="View MedGen record for 'Breast cancer, susceptibility to'">Breast cancer, susceptibility to</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=C1836860[DISCUI]&test_type=Clinical" ref="ncbi_uid=323015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323015" target="_blank" href="/omim/605882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323015" ref="ncbi_uid=323015">V</a></span></span><span class="TLline"><a href="/medgen/323015" ref="tree=GTR&ncbi_uid=323015&link_uid=323015" title="View MedGen record for 'Fanconi anemia complementation group J'">Fanconi anemia complementation group J</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=C1835817[DISCUI]&test_type=Clinical" ref="ncbi_uid=372133">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372133" target="_blank" href="/omim/610355">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=372133">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372133" ref="ncbi_uid=372133">V</a></span></span><span class="TLline"><a href="/medgen/372133" ref="tree=GTR&ncbi_uid=372133&link_uid=372133" title="View MedGen record for 'Fanconi anemia complementation group N'">Fanconi anemia complementation group N</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=C0677776[DISCUI]&test_type=Clinical" ref="ncbi_uid=151793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=151793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151793" ref="ncbi_uid=151793">V</a></span></span><span class="TLline"><a href="/medgen/151793" ref="tree=GTR&ncbi_uid=151793&link_uid=151793" title="View MedGen record for 'Hereditary breast ovarian cancer syndrome'">Hereditary breast ovarian cancer syndrome</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=C0085390[DISCUI]&test_type=Clinical" ref="ncbi_uid=88399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88399" target="_blank" href="/omim/151623">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1311/" ref="ncbi_uid=88399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88399" ref="ncbi_uid=88399">V</a></span></span><span class="TLline"><a href="/medgen/88399" ref="tree=GTR&ncbi_uid=88399&link_uid=88399" title="View MedGen record for 'Li-Fraumeni syndrome'">Li-Fraumeni syndrome</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031269[DISCUI]&test_type=Clinical" ref="ncbi_uid=18404">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18404" target="_blank" href="/omim/175200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1266/" ref="ncbi_uid=18404">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18404" ref="ncbi_uid=18404">V</a></span></span><span class="TLline">Peutz-Jeghers syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1959582[DISCUI]&test_type=Clinical" ref="ncbi_uid=368366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=368366" target="_blank" href="/omim/158350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1488/" ref="ncbi_uid=368366">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=368366" ref="ncbi_uid=368366">V</a></span></span><span class="TLline"><a href="/medgen/368366" ref="tree=GTR&ncbi_uid=368366&link_uid=368366" title="View MedGen record for 'PTEN hamartoma tumor syndrome'">PTEN hamartoma tumor syndrome</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871338" ref="tree=MeSH" title="MedGen record for Abnormality of the breast">Abnormality of the breast</a></span><ul><li><span class="TLline"><a href="/medgen/1627648" ref="tree=MeSH" title="MedGen record for Abnormal breast morphology">Abnormal breast morphology</a></span><ul><li><span class="TLline"><a href="/medgen/264172" ref="tree=MeSH" title="MedGen record for Breast neoplasm">Breast neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/146260" ref="tree=MeSH" title="MedGen record for Breast carcinoma">Breast carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/87542" ref="tree=MeSH" title="MedGen record for Familial cancer of breast">Familial cancer of breast</a></span><ul><li><span class="matched_ds">Peutz-Jeghers syndrome</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=233&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Peutz-Jeghers 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/37054692">Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto H,
|
||
Sakamoto H,
|
||
Kumagai H,
|
||
Abe T,
|
||
Ishiguro S,
|
||
Uchida K,
|
||
Kawasaki Y,
|
||
Saida Y,
|
||
Sano Y,
|
||
Takeuchi Y,
|
||
Tajika M,
|
||
Nakajima T,
|
||
Banno K,
|
||
Funasaka Y,
|
||
Hori S,
|
||
Yamaguchi T,
|
||
Yoshida T,
|
||
Ishikawa H,
|
||
Iwama T,
|
||
Okazaki Y,
|
||
Saito Y,
|
||
Matsuura N,
|
||
Mutoh M,
|
||
Tomita N,
|
||
Akiyama T,
|
||
Yamamoto T,
|
||
Ishida H,
|
||
Nakayama Y</span><br />
|
||
<span class="medgenPMjournal">Digestion</span>
|
||
2023;104(5):335-347.
|
||
Epub 2023 Apr 13
|
||
doi: 10.1159/000529799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37054692" target="_blank">37054692</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/20581245">Peutz-Jeghers syndrome: a systematic review and recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beggs AD,
|
||
Latchford AR,
|
||
Vasen HF,
|
||
Moslein G,
|
||
Alonso A,
|
||
Aretz S,
|
||
Bertario L,
|
||
Blanco I,
|
||
Bülow S,
|
||
Burn J,
|
||
Capella G,
|
||
Colas C,
|
||
Friedl W,
|
||
Møller P,
|
||
Hes FJ,
|
||
Järvinen H,
|
||
Mecklin JP,
|
||
Nagengast FM,
|
||
Parc Y,
|
||
Phillips RK,
|
||
Hyer W,
|
||
Ponz de Leon M,
|
||
Renkonen-Sinisalo L,
|
||
Sampson JR,
|
||
Stormorken A,
|
||
Tejpar S,
|
||
Thomas HJ,
|
||
Wijnen JT,
|
||
Clark SK,
|
||
Hodgson SV</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2010 Jul;59(7):975-86.
|
||
doi: 10.1136/gut.2009.198499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20581245" target="_blank">20581245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22peutz-jeghers%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 (86)</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 class="nl"><a target="_blank" href="/pubmed/26389210">Genetics of Breast and Gynecologic Cancers (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/26389210" target="_blank">26389210</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/37054692">Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto H,
|
||
Sakamoto H,
|
||
Kumagai H,
|
||
Abe T,
|
||
Ishiguro S,
|
||
Uchida K,
|
||
Kawasaki Y,
|
||
Saida Y,
|
||
Sano Y,
|
||
Takeuchi Y,
|
||
Tajika M,
|
||
Nakajima T,
|
||
Banno K,
|
||
Funasaka Y,
|
||
Hori S,
|
||
Yamaguchi T,
|
||
Yoshida T,
|
||
Ishikawa H,
|
||
Iwama T,
|
||
Okazaki Y,
|
||
Saito Y,
|
||
Matsuura N,
|
||
Mutoh M,
|
||
Tomita N,
|
||
Akiyama T,
|
||
Yamamoto T,
|
||
Ishida H,
|
||
Nakayama Y</span><br />
|
||
<span class="medgenPMjournal">Digestion</span>
|
||
2023;104(5):335-347.
|
||
Epub 2023 Apr 13
|
||
doi: 10.1159/000529799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37054692" target="_blank">37054692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33591027">Peutz-Jeghers syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tacheci I,
|
||
Kopacova M,
|
||
Bures J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Gastroenterol</span>
|
||
2021 May 1;37(3):245-254.
|
||
doi: 10.1097/MOG.0000000000000718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33591027" target="_blank">33591027</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30269130">Familial Pancreatic Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benzel J,
|
||
Fendrich V</span><br />
|
||
<span class="medgenPMjournal">Oncol Res Treat</span>
|
||
2018;41(10):611-618.
|
||
Epub 2018 Sep 28
|
||
doi: 10.1159/000493473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30269130" target="_blank">30269130</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/20420945">Hereditary and familial colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasperson KW,
|
||
Tuohy TM,
|
||
Neklason DW,
|
||
Burt RW</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2010 Jun;138(6):2044-58.
|
||
doi: 10.1053/j.gastro.2010.01.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20420945" target="_blank">20420945</a><a href="/pmc/articles/PMC3057468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peutz-Jeghers%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 (605)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37054692">Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamoto H,
|
||
Sakamoto H,
|
||
Kumagai H,
|
||
Abe T,
|
||
Ishiguro S,
|
||
Uchida K,
|
||
Kawasaki Y,
|
||
Saida Y,
|
||
Sano Y,
|
||
Takeuchi Y,
|
||
Tajika M,
|
||
Nakajima T,
|
||
Banno K,
|
||
Funasaka Y,
|
||
Hori S,
|
||
Yamaguchi T,
|
||
Yoshida T,
|
||
Ishikawa H,
|
||
Iwama T,
|
||
Okazaki Y,
|
||
Saito Y,
|
||
Matsuura N,
|
||
Mutoh M,
|
||
Tomita N,
|
||
Akiyama T,
|
||
Yamamoto T,
|
||
Ishida H,
|
||
Nakayama Y</span><br />
|
||
<span class="medgenPMjournal">Digestion</span>
|
||
2023;104(5):335-347.
|
||
Epub 2023 Apr 13
|
||
doi: 10.1159/000529799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37054692" target="_blank">37054692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36197686">Peutz-Jeghers Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sato E,
|
||
Goto T,
|
||
Honda H</span><br />
|
||
<span class="medgenPMjournal">JAMA Dermatol</span>
|
||
2022 Nov 1;158(11):1316.
|
||
doi: 10.1001/jamadermatol.2022.3979.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36197686" target="_blank">36197686</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33591027">Peutz-Jeghers syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tacheci I,
|
||
Kopacova M,
|
||
Bures J</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Gastroenterol</span>
|
||
2021 May 1;37(3):245-254.
|
||
doi: 10.1097/MOG.0000000000000718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33591027" target="_blank">33591027</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30699321">Peutz-Jeghers Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sengupta S,
|
||
Bose S</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Jan 31;380(5):472.
|
||
doi: 10.1056/NEJMicm1806623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30699321" target="_blank">30699321</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=%22Peutz-Jeghers%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 (847)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33655310">Esophageal Cancer: An Updated Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiSiena M,
|
||
Perelman A,
|
||
Birk J,
|
||
Rezaizadeh H</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2021 Mar;114(3):161-168.
|
||
doi: 10.14423/SMJ.0000000000001226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33655310" target="_blank">33655310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892857">Pigmented Lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ko E,
|
||
Panchal N</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2020 Oct;38(4):485-494.
|
||
doi: 10.1016/j.det.2020.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892857" target="_blank">32892857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23796552">Small bowel adenocarcinoma: epidemiology, risk factors, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aparicio T,
|
||
Zaanan A,
|
||
Svrcek M,
|
||
Laurent-Puig P,
|
||
Carrere N,
|
||
Manfredi S,
|
||
Locher C,
|
||
Afchain P</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2014 Feb;46(2):97-104.
|
||
Epub 2013 Jun 21
|
||
doi: 10.1016/j.dld.2013.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23796552" target="_blank">23796552</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,
|
||
Welsh JS</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Oncol</span>
|
||
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/14722853">Small-bowel endoscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pennazio M</span><br />
|
||
<span class="medgenPMjournal">Endoscopy</span>
|
||
2004 Jan;36(1):32-41.
|
||
doi: 10.1055/s-2004-814116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14722853" target="_blank">14722853</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peutz-Jeghers%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 (119)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34479873">Gene of the month: STK11.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zyla RE,
|
||
Hahn E,
|
||
Hodgson A</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2021 Nov;74(11):681-685.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1136/jclinpath-2021-207906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34479873" target="_blank">34479873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33655310">Esophageal Cancer: An Updated Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiSiena M,
|
||
Perelman A,
|
||
Birk J,
|
||
Rezaizadeh H</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
2021 Mar;114(3):161-168.
|
||
doi: 10.14423/SMJ.0000000000001226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33655310" target="_blank">33655310</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/20420945">Hereditary and familial colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasperson KW,
|
||
Tuohy TM,
|
||
Neklason DW,
|
||
Burt RW</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2010 Jun;138(6):2044-58.
|
||
doi: 10.1053/j.gastro.2010.01.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20420945" target="_blank">20420945</a><a href="/pmc/articles/PMC3057468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11588539">Small intestinal neoplasms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gill SS,
|
||
Heuman DM,
|
||
Mihas AA</span><br />
|
||
<span class="medgenPMjournal">J Clin Gastroenterol</span>
|
||
2001 Oct;33(4):267-82.
|
||
doi: 10.1097/00004836-200110000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11588539" target="_blank">11588539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peutz-Jeghers%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 (281)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37675464">Gastrointestinal: Peutz-Jeghers syndrome with a novel frameshift mutation in STK 11 gene observed by magnifying narrowband imaging endoscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kawasaki K,
|
||
Kawatoko S,
|
||
Nagasue T,
|
||
Umeno J,
|
||
Torisu T</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2024 Jan;39(1):36.
|
||
Epub 2023 Sep 7
|
||
doi: 10.1111/jgh.16347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37675464" target="_blank">37675464</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/24605033">Screening and early detection of pancreatic cancer in high risk population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang MC,
|
||
Wong JM,
|
||
Chang YT</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Mar 7;20(9):2358-64.
|
||
doi: 10.3748/wjg.v20.i9.2358.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24605033" target="_blank">24605033</a><a href="/pmc/articles/PMC3942839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20420945">Hereditary and familial colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasperson KW,
|
||
Tuohy TM,
|
||
Neklason DW,
|
||
Burt RW</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2010 Jun;138(6):2044-58.
|
||
doi: 10.1053/j.gastro.2010.01.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20420945" target="_blank">20420945</a><a href="/pmc/articles/PMC3057468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peutz-Jeghers%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 (262)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/34903560">Gastric-type adenocarcinoma of the cervix in patients with Peutz-Jeghers syndrome: a systematic review of the literature with proposed screening guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordhandas SB,
|
||
Kahn R,
|
||
Sassine D,
|
||
Aviki EM,
|
||
Baltich Nelson B,
|
||
Catchings A,
|
||
Liu YL,
|
||
Lakhman Y,
|
||
Abu-Rustum NR,
|
||
Park KJ,
|
||
Mueller JJ</span><br />
|
||
<span class="medgenPMjournal">Int J Gynecol Cancer</span>
|
||
2022 Jan;32(1):79-88.
|
||
Epub 2021 Dec 13
|
||
doi: 10.1136/ijgc-2021-002997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34903560" target="_blank">34903560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33394507">Oral pigmented lesions in syndromic individuals: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira LDS,
|
||
Calderipe CB,
|
||
Maass JB,
|
||
Carrard VC,
|
||
Martins MD,
|
||
Abreu LG,
|
||
Schuch LF,
|
||
Uchoa Vasconcelos AC</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2022 Apr;28(3):531-540.
|
||
Epub 2021 Jan 16
|
||
doi: 10.1111/odi.13769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33394507" target="_blank">33394507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22366115">Surveillance for hereditary cancer: does the benefit outweigh the psychological burden?--A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gopie JP,
|
||
Vasen HF,
|
||
Tibben A</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
|
||
2012 Sep;83(3):329-40.
|
||
Epub 2012 Feb 25
|
||
doi: 10.1016/j.critrevonc.2012.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22366115" target="_blank">22366115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20581245">Peutz-Jeghers syndrome: a systematic review and recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beggs AD,
|
||
Latchford AR,
|
||
Vasen HF,
|
||
Moslein G,
|
||
Alonso A,
|
||
Aretz S,
|
||
Bertario L,
|
||
Blanco I,
|
||
Bülow S,
|
||
Burn J,
|
||
Capella G,
|
||
Colas C,
|
||
Friedl W,
|
||
Møller P,
|
||
Hes FJ,
|
||
Järvinen H,
|
||
Mecklin JP,
|
||
Nagengast FM,
|
||
Parc Y,
|
||
Phillips RK,
|
||
Hyer W,
|
||
Ponz de Leon M,
|
||
Renkonen-Sinisalo L,
|
||
Sampson JR,
|
||
Stormorken A,
|
||
Tejpar S,
|
||
Thomas HJ,
|
||
Wijnen JT,
|
||
Clark SK,
|
||
Hodgson SV</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2010 Jul;59(7):975-86.
|
||
doi: 10.1136/gut.2009.198499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20581245" target="_blank">20581245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20051941">High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Lier MG,
|
||
Wagner A,
|
||
Mathus-Vliegen EM,
|
||
Kuipers EJ,
|
||
Steyerberg EW,
|
||
van Leerdam ME</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2010 Jun;105(6):1258-64; author reply 1265.
|
||
Epub 2010 Jan 5
|
||
doi: 10.1038/ajg.2009.725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20051941" target="_blank">20051941</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Peutz-Jeghers%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (118)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (137)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031269%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0031269%5bDISCUI%5d" target="_blank">See all (162)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=175200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2869" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Peutz-Jeghers%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22peutz-jeghers%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(%22Peutz-Jeghers%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></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=602216" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6794[geneid]" target="_blank">View STK11 variations in ClinVar</a></li><li><a href="/nuccore/170014710" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=175200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/peutz_jeghers_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Peutz-Jeghers%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7378/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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||
<li>
|
||
<a href="/pubmed/20301443" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Peutz-Jeghers%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Peutz-Jeghers%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
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||
<h3>Related information</h3>
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</div>
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<div class="portlet_content DiscoveryDbLinks">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=18404" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=18404" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0031269[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0031269[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=18404" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=18404" ref="log$=recordlinks">NCBI Bookshelf</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=18404" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=18404" ref="log$=recordlinks">OMIM(Genes)</a>
|
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=18404" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=18404" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=18404" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=18404" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=18404" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
||
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d6931ccde49f3df7770416">Peutz-Jeghers syndrome</a>
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<div class="ralinkpop offscreen_noflow">Peutz-Jeghers syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d6931bcde49f3df776ff45">C0031269[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d692f667c23b31e04c5806">SDHC succinate dehydrogenase complex subunit C [Homo sapiens]</a>
|
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<div class="ralinkpop offscreen_noflow">SDHC succinate dehydrogenase complex subunit C [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:6391</div></div>
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<div class="tertiary">Gene</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d692f567c23b31e04c5397">Paragangliomas 3</a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d692f467c23b31e04c5058">C1854336[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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