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<meta name="keywords" content="C3888239, aganglionic megacolon, finding, hirschsprung disease, hirschsprung disease 1, hirschsprung disease caused by mutation in ret, hirschsprung disease, protection against, hirschsprung disease, susceptibility to, 1, hirschsprung disease, susceptibility to, type 1, hscr, hscr 1, hscr1, megacolon, aganglionic, mgc, ret, ret hirschsprung disease, ret-related hirschsprung disease, susceptibility to hirschsprung disease 1, 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="Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.\n\nThere are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).\n\nEnteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.\n\nHirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=854827
|
||
ConceptID=C3888239
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hirschsprung disease, susceptibility to, 1<span class="h1sub">(HSCR1; MGC; HSCR)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854827</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:">C3888239</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease</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="RET - ID: 5979 - NCBI Gene" href="/gene/5979" class="medgenPMinfo">RET</a> (10q11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007723" target="_blank">MONDO:0007723</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/142623" target="_blank">142623</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.<br /><br />There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).<br /><br />Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.<br /><br />Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_34"><div><strong>Abdominal distention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>34</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.">C0000731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distention of the abdomen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/34">Feature record</a> | <a href="/medgen?term=%22Abdominal%20distention%22%5BClinical%20Features%5D%20OR%2034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4966"><div><strong>Enterocolitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4966</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.">C0014356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4966">Feature record</a> | <a href="/medgen?term=%22Enterocolitis%22%5BClinical%20Features%5D%20OR%204966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5559"><div><strong>Aganglionic megacolon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5559</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.">C0019569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/5559">Feature record</a> | <a href="/medgen?term=%22Aganglionic%20megacolon%22%5BClinical%20Features%5D%20OR%205559%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_927580"><div><strong>Abnormal enteric ganglion morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>927580</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.">C4293671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/927580">Feature record</a> | <a href="/medgen?term=%22Abnormal%20enteric%20ganglion%20morphology%22%5BClinical%20Features%5D%20OR%20927580%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 the digestive system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_34" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal distention</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aganglionic megacolon</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enterocolitis</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_927580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal enteric ganglion morphology</a></span></li></ul></li></ul></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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||
<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></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=C0019569[DISCUI]&test_type=Clinical" ref="ncbi_uid=5559">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0019569[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=5559">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=5559" ref="ncbi_uid=5559">V</a></span></span><span class="TLline"><a href="/medgen/5559" ref="tree=GTR&ncbi_uid=5559&link_uid=5559" title="View MedGen record for 'Aganglionic megacolon'">Aganglionic megacolon</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=C3151237[DISCUI]&test_type=Clinical" ref="ncbi_uid=462587">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3151237[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462587">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462587" target="_blank" href="/omim/600423">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=462587" ref="ncbi_uid=462587">V</a></span></span><span class="TLline"><a href="/medgen/462587" ref="tree=GTR&ncbi_uid=462587&link_uid=462587" title="View MedGen record for 'Hirschsprung disease, cardiac defects, and autonomic dysfunction'">Hirschsprung disease, cardiac defects, and autonomic dysfunction</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=C3888239[DISCUI]&test_type=Clinical" ref="ncbi_uid=854827">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3888239[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=854827">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854827" target="_blank" href="/omim/142623">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=854827" ref="ncbi_uid=854827">V</a></span></span><span class="TLline">Hirschsprung disease, susceptibility to, 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838564[DISCUI]&test_type=Clinical" ref="ncbi_uid=374002">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1838564[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=374002">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374002" target="_blank" href="/omim/131244">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=374002" ref="ncbi_uid=374002">V</a></span></span><span class="TLline"><a href="/medgen/374002" ref="tree=GTR&ncbi_uid=374002&link_uid=374002" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 2'">Hirschsprung disease, susceptibility to, 2</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=C3150974[DISCUI]&test_type=Clinical" ref="ncbi_uid=462324">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3150974[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462324">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462324" target="_blank" href="/omim/600837">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=462324" ref="ncbi_uid=462324">V</a></span></span><span class="TLline"><a href="/medgen/462324" ref="tree=GTR&ncbi_uid=462324&link_uid=462324" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 3'">Hirschsprung disease, susceptibility to, 3</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=C3150975[DISCUI]&test_type=Clinical" ref="ncbi_uid=462325">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3150975[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=462325">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462325" target="_blank" href="/omim/131242">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=462325" ref="ncbi_uid=462325">V</a></span></span><span class="TLline"><a href="/medgen/462325" ref="tree=GTR&ncbi_uid=462325&link_uid=462325" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 4'">Hirschsprung disease, susceptibility to, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1970723[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=410137">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410137" target="_blank" href="/omim/600156">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/410137" ref="tree=GTR&ncbi_uid=410137&link_uid=410137" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 5'">Hirschsprung disease, susceptibility to, 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1969837[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=369600">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369600" target="_blank" href="/omim/606874">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/369600" ref="tree=GTR&ncbi_uid=369600&link_uid=369600" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 6'">Hirschsprung disease, susceptibility to, 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1969836[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=370761">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370761" target="_blank" href="/omim/606875">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/370761" ref="tree=GTR&ncbi_uid=370761&link_uid=370761" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 7'">Hirschsprung disease, susceptibility to, 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1969482[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=409841">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409841" target="_blank" href="/omim/608462">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/409841" ref="tree=GTR&ncbi_uid=409841&link_uid=409841" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 8'">Hirschsprung disease, susceptibility to, 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1968840[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=369866">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369866" target="_blank" href="/omim/611644">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/369866" ref="tree=GTR&ncbi_uid=369866&link_uid=369866" title="View MedGen record for 'Hirschsprung disease, susceptibility to, 9'">Hirschsprung disease, susceptibility to, 9</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/5559" ref="tree=MeSH" title="MedGen record for Aganglionic megacolon">Aganglionic megacolon</a></span><ul><li><span class="matched_ds">Hirschsprung disease, susceptibility to, 1</span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
|
||
<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/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28094436">Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klemetti P,
|
||
Valta H,
|
||
Kostjukovits S,
|
||
Taskinen M,
|
||
Toiviainen-Salo S,
|
||
Mäkitie O</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2017 Aug;92(2):204-207.
|
||
Epub 2017 Mar 19
|
||
doi: 10.1111/cge.12969.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28094436" target="_blank">28094436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18280283">A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SW,
|
||
Zaahl MG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2008 Feb;43(2):325-9.
|
||
doi: 10.1016/j.jpedsurg.2007.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18280283" target="_blank">18280283</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hirschsprung%20disease%2C%20susceptibility%20to%2C%201)%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 (4)</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_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/38860978">Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamihara J,
|
||
Diller LR,
|
||
Foulkes WD,
|
||
Michaeli O,
|
||
Nakano Y,
|
||
Pajtler KW,
|
||
Perrino M,
|
||
Scollon SR,
|
||
Stewart DR,
|
||
Voss S,
|
||
Weksberg R,
|
||
Hansford JR,
|
||
Brodeur GM</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2024 Aug 1;30(15):3137-3143.
|
||
doi: 10.1158/1078-0432.CCR-24-0237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38860978" target="_blank">38860978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34545688">Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lan C,
|
||
Wu Y,
|
||
Wang N,
|
||
Luo Y,
|
||
Zhao J,
|
||
Zheng Y,
|
||
Zhang Y,
|
||
Huang L,
|
||
Zhu Y,
|
||
Lu L,
|
||
Zhong W,
|
||
Zeng J,
|
||
Xia H</span><br />
|
||
<span class="medgenPMjournal">J Cell Mol Med</span>
|
||
2021 Oct;25(20):9609-9616.
|
||
Epub 2021 Sep 20
|
||
doi: 10.1111/jcmm.16905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34545688" target="_blank">34545688</a><a href="/pmc/articles/PMC8505836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33468134">Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang H,
|
||
Zhao JL,
|
||
Zheng Y,
|
||
Xie XL,
|
||
Huang LH,
|
||
Li L,
|
||
Zhu Y,
|
||
Lu LF,
|
||
Hu TQ,
|
||
Zhong W,
|
||
He QM</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Jan 19;14(1):21.
|
||
doi: 10.1186/s12920-020-00867-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33468134" target="_blank">33468134</a><a href="/pmc/articles/PMC7814452" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30970187">Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tilghman JM,
|
||
Ling AY,
|
||
Turner TN,
|
||
Sosa MX,
|
||
Krumm N,
|
||
Chatterjee S,
|
||
Kapoor A,
|
||
Coe BP,
|
||
Nguyen KH,
|
||
Gupta N,
|
||
Gabriel S,
|
||
Eichler EE,
|
||
Berrios C,
|
||
Chakravarti A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Apr 11;380(15):1421-1432.
|
||
doi: 10.1056/NEJMoa1706594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30970187" target="_blank">30970187</a><a href="/pmc/articles/PMC6596298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25638620">Clinical and genetic correlations of familial Hirschsprung's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SW,
|
||
Zaahl M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Feb;50(2):285-8.
|
||
Epub 2014 Nov 7
|
||
doi: 10.1016/j.jpedsurg.2014.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25638620" target="_blank">25638620</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%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 (80)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34575824">Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ji Y,
|
||
Tam PK,
|
||
Tang CS</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Sep 7;22(18)
|
||
doi: 10.3390/ijms22189659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34575824" target="_blank">34575824</a><a href="/pmc/articles/PMC8465795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31644668">ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amooee A,
|
||
Lookzadeh MH,
|
||
Mirjalili SR,
|
||
Miresmaeili SM,
|
||
Aghili K,
|
||
Zare-Shehneh M,
|
||
Neamatzadeh H</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Cir Dig</span>
|
||
2019;32(3):e1448.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1590/0102-672020190001e1448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31644668" target="_blank">31644668</a><a href="/pmc/articles/PMC6812143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26611330">Hirschsprung's disease: A bridge for science and surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tam PK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2016 Jan;51(1):18-22.
|
||
Epub 2015 Oct 21
|
||
doi: 10.1016/j.jpedsurg.2015.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26611330" target="_blank">26611330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23605783">Hirschsprung's disease as a model of complex genetic etiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borrego S,
|
||
Ruiz-Ferrer M,
|
||
Fernández RM,
|
||
Antiñolo G</span><br />
|
||
<span class="medgenPMjournal">Histol Histopathol</span>
|
||
2013 Sep;28(9):1117-36.
|
||
Epub 2013 Apr 19
|
||
doi: 10.14670/HH-28.1117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23605783" target="_blank">23605783</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%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 (36)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31768705">Central venous catheter-associated bloodstream infections in children diagnosed with intestinal failure in Southern Israel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nassar R,
|
||
Hazan G,
|
||
Leibovitz E,
|
||
Ling G,
|
||
Lazar I,
|
||
Khalaila A,
|
||
Fruchtman Y,
|
||
Yerushalmi B</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Microbiol Infect Dis</span>
|
||
2020 Mar;39(3):517-525.
|
||
Epub 2019 Nov 25
|
||
doi: 10.1007/s10096-019-03753-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31768705" target="_blank">31768705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29093530">Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Li Q,
|
||
Diao M,
|
||
Liu N,
|
||
Cheng W,
|
||
Xiao P,
|
||
Zou J,
|
||
Su L,
|
||
Yu K,
|
||
Wu J,
|
||
Li L,
|
||
Jiang Q</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Nov 1;7(1):14796.
|
||
doi: 10.1038/s41598-017-14835-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29093530" target="_blank">29093530</a><a href="/pmc/articles/PMC5666020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25717236">Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng WW,
|
||
Tang CS,
|
||
Gui HS,
|
||
So MT,
|
||
Lui VC,
|
||
Tam PK,
|
||
Garcia-Barcelo MM</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2015 Feb 21;21(7):2040-6.
|
||
doi: 10.3748/wjg.v21.i7.2040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25717236" target="_blank">25717236</a><a href="/pmc/articles/PMC4326138" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29093530">Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Li Q,
|
||
Diao M,
|
||
Liu N,
|
||
Cheng W,
|
||
Xiao P,
|
||
Zou J,
|
||
Su L,
|
||
Yu K,
|
||
Wu J,
|
||
Li L,
|
||
Jiang Q</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Nov 1;7(1):14796.
|
||
doi: 10.1038/s41598-017-14835-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29093530" target="_blank">29093530</a><a href="/pmc/articles/PMC5666020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28664405">Potential association between ITPKC genetic variations and Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Jung SM,
|
||
Shin JG,
|
||
Cheong HS,
|
||
Seo JM,
|
||
Kim DY,
|
||
Oh JT,
|
||
Kim HY,
|
||
Jung K,
|
||
Shin HD</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2017 Jul;44(3):307-313.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1007/s11033-017-4111-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28664405" target="_blank">28664405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25475805">Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gunadi,
|
||
Kapoor A,
|
||
Ling AY,
|
||
Rochadi,
|
||
Makhmudi A,
|
||
Herini ES,
|
||
Sosa MX,
|
||
Chatterjee S,
|
||
Chakravarti A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2014 Nov;49(11):1614-8.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1016/j.jpedsurg.2014.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25475805" target="_blank">25475805</a><a href="/pmc/articles/PMC4258000" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18365214">Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SW,
|
||
Zaahl MG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2008 May;24(5):521-30.
|
||
Epub 2008 Mar 26
|
||
doi: 10.1007/s00383-008-2137-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18365214" target="_blank">18365214</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29093530">Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Li Q,
|
||
Diao M,
|
||
Liu N,
|
||
Cheng W,
|
||
Xiao P,
|
||
Zou J,
|
||
Su L,
|
||
Yu K,
|
||
Wu J,
|
||
Li L,
|
||
Jiang Q</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Nov 1;7(1):14796.
|
||
doi: 10.1038/s41598-017-14835-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29093530" target="_blank">29093530</a><a href="/pmc/articles/PMC5666020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28664405">Potential association between ITPKC genetic variations and Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim JH,
|
||
Jung SM,
|
||
Shin JG,
|
||
Cheong HS,
|
||
Seo JM,
|
||
Kim DY,
|
||
Oh JT,
|
||
Kim HY,
|
||
Jung K,
|
||
Shin HD</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2017 Jul;44(3):307-313.
|
||
Epub 2017 Jun 29
|
||
doi: 10.1007/s11033-017-4111-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28664405" target="_blank">28664405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25638620">Clinical and genetic correlations of familial Hirschsprung's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SW,
|
||
Zaahl M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Feb;50(2):285-8.
|
||
Epub 2014 Nov 7
|
||
doi: 10.1016/j.jpedsurg.2014.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25638620" target="_blank">25638620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18365214">Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SW,
|
||
Zaahl MG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2008 May;24(5):521-30.
|
||
Epub 2008 Mar 26
|
||
doi: 10.1007/s00383-008-2137-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18365214" target="_blank">18365214</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%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 (47)</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/32914730">Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZW,
|
||
Guo X,
|
||
Qi XP</span><br />
|
||
<span class="medgenPMjournal">Endocr Metab Immune Disord Drug Targets</span>
|
||
2021;21(3):534-543.
|
||
doi: 10.2174/1871530320666200910112230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32914730" target="_blank">32914730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31644668">ASSOCIATION OF RS2435357 AND RS1800858 POLYMORPHISMS IN RET PROTO-ONCOGENE WITH HIRSCHSPRUNG DISEASE: SYSTEMATIC REVIEW AND META-ANALYSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amooee A,
|
||
Lookzadeh MH,
|
||
Mirjalili SR,
|
||
Miresmaeili SM,
|
||
Aghili K,
|
||
Zare-Shehneh M,
|
||
Neamatzadeh H</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Cir Dig</span>
|
||
2019;32(3):e1448.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1590/0102-672020190001e1448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31644668" target="_blank">31644668</a><a href="/pmc/articles/PMC6812143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hirschsprung%20disease%2C%20susceptibility%20to%2C%201%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</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=C3888239%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C3888239%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3888239%5bDISCUI%5d" target="_blank">See all (54)</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=142623" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hirschsprung%20disease,%20susceptibility%20to,%201" 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=(hirschsprung%20disease%2C%20susceptibility%20to%2C%201)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<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=164761" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5979[geneid]" target="_blank">View RET variations in ClinVar</a></li><li><a href="/nuccore/171184431" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=142623" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hirschsprung%27s+disease/3429" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hirschsprung_disease_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hirschsprung%20disease,%20susceptibility%20to,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hirschsprung-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<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>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hirschsprung%20disease,%20susceptibility%20to,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hirschsprung%20disease,%20susceptibility%20to,%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=854827" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=854827" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3888239[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3888239[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3888239[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=854827" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=854827" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=854827" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=854827" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=854827" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
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</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
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