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<!--
|
||
UID=389187
|
||
ConceptID=C2239176
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hepatocellular carcinoma<span class="h1sub">(HCC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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.">C2239176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>HCC; Hepatocellular cancer; HEPATOMA; LIVER CELL CARCINOMA; Primary carcinoma of liver</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Primary carcinoma of liver (187769009); Hepatocarcinoma (109841003); Hepatocellular carcinoma (109841003); Malignant hepatoma (109841003); HCC - Hepatocellular carcinoma (109841003); LCC - Liver cell carcinoma (109841003); Liver cell carcinoma (109841003); Liver carcinoma (109841003); Hepatocellular carcinoma (25370001); Liver cell carcinoma (25370001); Hepatocarcinoma (25370001); Hepatoma, malignant (25370001); Hepatoma (25370001); Primary liver cell carcinoma (1186630006); Primary liver carcinoma (1186630006); Primary hepatocarcinoma (1186630006); Primary malignant hepatoma (1186630006); Primary hepatocellular carcinoma (1186630006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="APC - ID: 324 - NCBI Gene" href="/gene/324" class="medgenPMinfo">APC</a> (5q22.2); <a target="_blank" title="AXIN1 - ID: 8312 - NCBI Gene" href="/gene/8312" class="medgenPMinfo">AXIN1</a> (16p13.3); <a target="_blank" title="CASP8 - ID: 841 - NCBI Gene" href="/gene/841" class="medgenPMinfo">CASP8</a> (2q33.1); <a target="_blank" title="CTNNB1 - ID: 1499 - NCBI Gene" href="/gene/1499" class="medgenPMinfo">CTNNB1</a> (3p22.1); <a target="_blank" title="IGF2R - ID: 3482 - NCBI Gene" href="/gene/3482" class="medgenPMinfo">IGF2R</a> (6q25.3); <a target="_blank" title="MET - ID: 4233 - NCBI Gene" href="/gene/4233" class="medgenPMinfo">MET</a> (7q31.2); <a target="_blank" title="PDGFRL - ID: 5157 - NCBI Gene" href="/gene/5157" class="medgenPMinfo">PDGFRL</a> (8p22); <a target="_blank" title="PIK3CA - ID: 5290 - NCBI Gene" href="/gene/5290" class="medgenPMinfo">PIK3CA</a> (3q26.32); <a target="_blank" title="TP53 - ID: 7157 - NCBI Gene" href="/gene/7157" class="medgenPMinfo">TP53</a> (17p13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001402">HP:0001402</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007256" target="_blank">MONDO:0007256</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/114550" target="_blank">114550</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=88673">ORPHA88673</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_75640"><div><strong>Micronodular cirrhosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75640</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.">C0267812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of cirrhosis characterized by the presence of small regenerative nodules.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75640">Feature record</a> | <a href="/medgen?term=%22Micronodular%20cirrhosis%22%5BClinical%20Features%5D%20OR%2075640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349389"><div><strong>Subacute progressive viral hepatitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349389</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.">C1861901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349389">Feature record</a> | <a href="/medgen?term=%22Subacute%20progressive%20viral%20hepatitis%22%5BClinical%20Features%5D%20OR%20349389%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_389187"><div><strong>Hepatocellular carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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.">C2239176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/389187">Feature record</a> | <a href="/medgen?term=%22Hepatocellular%20carcinoma%22%5BClinical%20Features%5D%20OR%20389187%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_389187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular carcinoma</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micronodular cirrhosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subacute progressive viral hepatitis</a></span></li></ul></li></ul></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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2239176[DISCUI]&test_type=Clinical" ref="ncbi_uid=389187">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=389187" target="_blank" href="/omim/114550">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=389187" ref="ncbi_uid=389187">V</a></span></span><span class="TLline">Hepatocellular carcinoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/277963" ref="tree=MeSH" title="MedGen record for Epithelial neoplasm">Epithelial neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/2867" ref="tree=MeSH" title="MedGen record for Carcinoma">Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/122" ref="tree=MeSH" title="MedGen record for Adenocarcinoma">Adenocarcinoma</a></span><ul><li><span class="matched_ds">Hepatocellular carcinoma</span><ul><li><span class="TLline"><a href="/medgen/124633" ref="tree=MeSH" title="MedGen record for Adult hepatocellular carcinoma">Adult hepatocellular carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/859696" ref="tree=MeSH" title="MedGen record for Adult Fibrolamellar Carcinoma">Adult Fibrolamellar Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859689" ref="tree=MeSH" title="MedGen record for Adult Pleomorphic Hepatocellular Carcinoma">Adult Pleomorphic Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/312876" ref="tree=MeSH" title="MedGen record for Advanced Adult Hepatocellular Carcinoma">Advanced Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859577" ref="tree=MeSH" title="MedGen record for BCLC Stage 0 Adult Hepatocellular Carcinoma">BCLC Stage 0 Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859575" ref="tree=MeSH" title="MedGen record for BCLC Stage A Adult Hepatocellular Carcinoma">BCLC Stage A Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859574" ref="tree=MeSH" title="MedGen record for BCLC Stage B Adult Hepatocellular Carcinoma">BCLC Stage B Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859572" ref="tree=MeSH" title="MedGen record for BCLC Stage C Adult Hepatocellular Carcinoma">BCLC Stage C Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859570" ref="tree=MeSH" title="MedGen record for BCLC Stage D Adult Hepatocellular Carcinoma">BCLC Stage D Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/313355" ref="tree=MeSH" title="MedGen record for Localized Resectable Adult Hepatocellular Carcinoma">Localized Resectable Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/313356" ref="tree=MeSH" title="MedGen record for Localized Unresectable Adult Hepatocellular Carcinoma">Localized Unresectable Adult Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/354480" ref="tree=MeSH" title="MedGen record for Recurrent Adult Hepatocellular Carcinoma">Recurrent Adult Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/231047" ref="tree=MeSH" title="MedGen record for Aflatoxin-related hepatocellular carcinoma">Aflatoxin-related hepatocellular carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1764456" ref="tree=MeSH" title="MedGen record for Chromophobe Hepatocellular Carcinoma">Chromophobe Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/83122" ref="tree=MeSH" title="MedGen record for Fibrolamellar hepatocellular carcinoma">Fibrolamellar hepatocellular carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1652119" ref="tree=MeSH" title="MedGen record for Metastatic Fibrolamellar Carcinoma">Metastatic Fibrolamellar Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1666550" ref="tree=MeSH" title="MedGen record for Recurrent Fibrolamellar Carcinoma">Recurrent Fibrolamellar Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1698019" ref="tree=MeSH" title="MedGen record for Unresectable Fibrolamellar Carcinoma">Unresectable Fibrolamellar Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/272709" ref="tree=MeSH" title="MedGen record for Hepatitis Virus-Related Hepatocellular Carcinoma">Hepatitis Virus-Related Hepatocellular Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/272708" ref="tree=MeSH" title="MedGen record for Hepatitis B Virus-Related Hepatocellular Carcinoma">Hepatitis B Virus-Related Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/234341" ref="tree=MeSH" title="MedGen record for Hepatitis C Virus-Related Hepatocellular Carcinoma">Hepatitis C Virus-Related Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/455936" ref="tree=MeSH" title="MedGen record for Hepatocellular Carcinoma by AJCC v6 Stage">Hepatocellular Carcinoma by AJCC v6 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1617501" ref="tree=MeSH" title="MedGen record for Stage I Hepatocellular Carcinoma AJCC v6 and v7">Stage I Hepatocellular Carcinoma AJCC v6 and v7</a></span><ul><li><span class="TLline"><a href="/medgen/1619042" ref="tree=MeSH" title="MedGen record for Stage I Childhood Hepatocellular Carcinoma AJCC v6 and v7">Stage I Childhood Hepatocellular Carcinoma AJCC v6 and v7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1616857" ref="tree=MeSH" title="MedGen record for Stage II Hepatocellular Carcinoma AJCC v6 and v7">Stage II Hepatocellular Carcinoma AJCC v6 and v7</a></span><ul><li><span class="TLline"><a href="/medgen/1616162" ref="tree=MeSH" title="MedGen record for Stage II Childhood Hepatocellular Carcinoma AJCC v6 and v7">Stage II Childhood Hepatocellular Carcinoma AJCC v6 and v7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/277709" ref="tree=MeSH" title="MedGen record for Stage III Hepatocellular Carcinoma AJCC v6">Stage III Hepatocellular Carcinoma AJCC v6</a></span></li><li><span class="TLline"><a href="/medgen/234884" ref="tree=MeSH" title="MedGen record for Stage IV Hepatocellular Carcinoma AJCC v6">Stage IV Hepatocellular Carcinoma AJCC v6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/456319" ref="tree=MeSH" title="MedGen record for Hepatocellular Carcinoma by AJCC v7 Stage">Hepatocellular Carcinoma by AJCC v7 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1614514" ref="tree=MeSH" title="MedGen record for Stage III Hepatocellular Carcinoma AJCC v7">Stage III Hepatocellular Carcinoma AJCC v7</a></span><ul><li><span class="TLline"><a href="/medgen/75856" ref="tree=MeSH" title="MedGen record for Stage III Childhood Hepatocellular Carcinoma AJCC v7">Stage III Childhood Hepatocellular Carcinoma AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/234838" ref="tree=MeSH" title="MedGen record for Stage IIIA Hepatocellular Carcinoma AJCC v7">Stage IIIA Hepatocellular Carcinoma AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/234843" ref="tree=MeSH" title="MedGen record for Stage IIIB Hepatocellular Carcinoma AJCC v7">Stage IIIB Hepatocellular Carcinoma AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/453847" ref="tree=MeSH" title="MedGen record for Stage IIIC Hepatocellular Carcinoma AJCC v7">Stage IIIC Hepatocellular Carcinoma AJCC v7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1617456" ref="tree=MeSH" title="MedGen record for Stage IV Hepatocellular Carcinoma AJCC v7">Stage IV Hepatocellular Carcinoma AJCC v7</a></span><ul><li><span class="TLline"><a href="/medgen/1620235" ref="tree=MeSH" title="MedGen record for Stage IV Childhood Hepatocellular Carcinoma AJCC v7">Stage IV Childhood Hepatocellular Carcinoma AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/233516" ref="tree=MeSH" title="MedGen record for Stage IVA Hepatocellular Carcinoma AJCC v7">Stage IVA Hepatocellular Carcinoma AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/277738" ref="tree=MeSH" title="MedGen record for Stage IVB Hepatocellular Carcinoma AJCC v7">Stage IVB Hepatocellular Carcinoma AJCC v7</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1620985" ref="tree=MeSH" title="MedGen record for Hepatocellular Carcinoma by AJCC v8 Stage">Hepatocellular Carcinoma by AJCC v8 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1620478" ref="tree=MeSH" title="MedGen record for Stage I Hepatocellular Carcinoma AJCC v8">Stage I Hepatocellular Carcinoma AJCC v8</a></span><ul><li><span class="TLline"><a href="/medgen/1612958" ref="tree=MeSH" title="MedGen record for Stage IA Hepatocellular Carcinoma AJCC v8">Stage IA Hepatocellular Carcinoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1619933" ref="tree=MeSH" title="MedGen record for Stage IB Hepatocellular Carcinoma AJCC v8">Stage IB Hepatocellular Carcinoma AJCC v8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1626390" ref="tree=MeSH" title="MedGen record for Stage II Hepatocellular Carcinoma AJCC v8">Stage II Hepatocellular Carcinoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1627193" ref="tree=MeSH" title="MedGen record for Stage III Hepatocellular Carcinoma AJCC v8">Stage III Hepatocellular Carcinoma AJCC v8</a></span><ul><li><span class="TLline"><a href="/medgen/1626342" ref="tree=MeSH" title="MedGen record for Stage IIIA Hepatocellular Carcinoma AJCC v8">Stage IIIA Hepatocellular Carcinoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1623763" ref="tree=MeSH" title="MedGen record for Stage IIIB Hepatocellular Carcinoma AJCC v8">Stage IIIB Hepatocellular Carcinoma AJCC v8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1622433" ref="tree=MeSH" title="MedGen record for Stage IV Hepatocellular Carcinoma AJCC v8">Stage IV Hepatocellular Carcinoma AJCC v8</a></span><ul><li><span class="TLline"><a href="/medgen/1616189" ref="tree=MeSH" title="MedGen record for Stage IVA Hepatocellular Carcinoma AJCC v8">Stage IVA Hepatocellular Carcinoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1614900" ref="tree=MeSH" title="MedGen record for Stage IVB Hepatocellular Carcinoma AJCC v8">Stage IVB Hepatocellular Carcinoma AJCC v8</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/858482" ref="tree=MeSH" title="MedGen record for Hepatocellular Carcinoma by BCLC Stage">Hepatocellular Carcinoma by BCLC Stage</a></span><ul><li><span class="TLline"><a href="/medgen/859576" ref="tree=MeSH" title="MedGen record for BCLC Stage 0 Hepatocellular Carcinoma">BCLC Stage 0 Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/856718" ref="tree=MeSH" title="MedGen record for BCLC Stage A Hepatocellular Carcinoma">BCLC Stage A Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859573" ref="tree=MeSH" title="MedGen record for BCLC Stage B Hepatocellular Carcinoma">BCLC Stage B Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859571" ref="tree=MeSH" title="MedGen record for BCLC Stage C Hepatocellular Carcinoma">BCLC Stage C Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/859569" ref="tree=MeSH" title="MedGen record for BCLC Stage D Hepatocellular Carcinoma">BCLC Stage D Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/690059" ref="tree=MeSH" title="MedGen record for Hepatocellular clear cell carcinoma">Hepatocellular clear cell carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/474665" ref="tree=MeSH" title="MedGen record for Lymphocyte-Rich Hepatocellular Carcinoma">Lymphocyte-Rich Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1768325" ref="tree=MeSH" title="MedGen record for Macrotrabecular Massive Hepatocellular Carcinoma">Macrotrabecular Massive Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/852738" ref="tree=MeSH" title="MedGen record for Metastatic Hepatocellular Carcinoma">Metastatic Hepatocellular Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1719415" ref="tree=MeSH" title="MedGen record for Advanced Hepatocellular Carcinoma">Advanced Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1710030" ref="tree=MeSH" title="MedGen record for Locally Advanced Hepatocellular Carcinoma">Locally Advanced Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/474667" ref="tree=MeSH" title="MedGen record for Moderately Differentiated Hepatocellular Carcinoma">Moderately Differentiated Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1722225" ref="tree=MeSH" title="MedGen record for Neutrophil-Rich Hepatocellular Carcinoma">Neutrophil-Rich Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/75999" ref="tree=MeSH" title="MedGen record for Pediatric hepatocellular carcinoma">Pediatric hepatocellular carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/235093" ref="tree=MeSH" title="MedGen record for Recurrent Childhood Hepatocellular Carcinoma">Recurrent Childhood Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/354057" ref="tree=MeSH" title="MedGen record for Pleomorphic Hepatocellular Carcinoma">Pleomorphic Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/474668" ref="tree=MeSH" title="MedGen record for Poorly Differentiated Hepatocellular Carcinoma">Poorly Differentiated Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/167832" ref="tree=MeSH" title="MedGen record for Recurrent Hepatocellular Carcinoma">Recurrent Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1699770" ref="tree=MeSH" title="MedGen record for Refractory Hepatocellular Carcinoma">Refractory Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/163587" ref="tree=MeSH" title="MedGen record for Resectable Hepatocellular Carcinoma">Resectable Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/690058" ref="tree=MeSH" title="MedGen record for Sarcomatoid Hepatocellular Carcinoma">Sarcomatoid Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/266088" ref="tree=MeSH" title="MedGen record for Sclerosing hepatic carcinoma">Sclerosing hepatic carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1754837" ref="tree=MeSH" title="MedGen record for Small Hepatocellular Carcinoma">Small Hepatocellular Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/474652" ref="tree=MeSH" title="MedGen record for Early Hepatocellular Carcinoma">Early Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1749508" ref="tree=MeSH" title="MedGen record for Small Progressed Hepatocellular Carcinoma">Small Progressed Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1728788" ref="tree=MeSH" title="MedGen record for Steatohepatitic Hepatocellular Carcinoma">Steatohepatitic Hepatocellular Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/231049" ref="tree=MeSH" title="MedGen record for Alcohol-Related Hepatocellular Carcinoma">Alcohol-Related Hepatocellular Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/234439" ref="tree=MeSH" title="MedGen record for Transplant-Related Hepatocellular Carcinoma">Transplant-Related Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/207269" ref="tree=MeSH" title="MedGen record for Unresectable Hepatocellular Carcinoma">Unresectable Hepatocellular Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/474666" ref="tree=MeSH" title="MedGen record for Well Differentiated Hepatocellular Carcinoma">Well Differentiated Hepatocellular Carcinoma</a></span></li></ul></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=11824&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hepatocellular carcinoma</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</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.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_56452"><div><strong>Acute intermittent porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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.">C0162565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute porphyria-related manifestations to date.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56452">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_65123"><div><strong>X-linked agammaglobulinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65123</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.">C0221026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifesting as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum immunoglobulin G to be achieved, and more liberal use of antibiotics.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65123">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_67461"><div><strong>Alpha-1-antitrypsin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67461</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.">C0221757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules which may ulcerate on legs and lower abdomen) and C-ANCA-positive vasculitis (granulomatosis with polyangiitis). Phenotypic expression varies within and between families. In adults, smoking is the major factor in accelerating the development of COPD; nonsmokers may have a normal life span, but can also develop lung and/or liver disease. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as neonatal cholestasis. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67461">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78644"><div><strong>Glucose-6-phosphate transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78644</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.">C0268146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSD Ib are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSD I include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and kidney failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78644">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75669"><div><strong>Familial porphyria cutanea tarda</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75669</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.">C0268323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75669">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87455"><div><strong>Phosphate transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87455</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.">C0342749</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163632"><div><strong>Budd-Chiari syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163632</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.">C0856761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Budd-Chiari syndrome (BDCHS) is defined as thrombosis of one or more of the large hepatic veins, the inferior vena cava, or both. Patients present with a classic clinical triad of abdominal pain, hepatomegaly, and ascites, typically associated with nonspecific elevations of liver enzymes. The disorder may be acute, subacute, or chronic. Edema of the legs may be present (summary by Chung et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163632">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350276"><div><strong>Citrullinemia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350276</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.">C1863844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350276">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_365434"><div><strong>Alagille syndrome due to a JAG1 point mutation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>365434</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.">C1956125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/365434">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_389187"><div><strong>Hepatocellular carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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.">C2239176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/389187">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_415885"><div><strong>Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>415885</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.">C2919796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glycogen storage disease type I (GSD I) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSD Ib are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSD I include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and kidney failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/415885">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418976"><div><strong>Cholestasis, progressive familial intrahepatic, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418976</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.">C2931067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483742"><div><strong>Progressive familial intrahepatic cholestasis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483742</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.">C3489789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483742">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863898"><div><strong>Progeroid features-hepatocellular carcinoma predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863898</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.">C4015461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ruijs-Aalfs syndrome (RJALS) is a segmental progeroid disorder characterized by early onset hepatocellular carcinoma, genomic instability, and progeroid features (summary by Lessel et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863898">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1718472"><div><strong>Silver-Russell syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718472</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.">C5393125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1718472">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794158"><div><strong>Portal hypertension, noncirrhotic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794158</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.">C5561948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808950"><div><strong>Hepatorenocardiac degenerative fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808950</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.">C5676996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy (Devane et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808950">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute intermittent porphyria</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_365434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alagille syndrome due to a JAG1 point mutation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-1-antitrypsin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163632" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Budd-Chiari syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Citrullinemia type II</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial porphyria cutanea tarda</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucose-6-phosphate transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_415885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_389187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular carcinoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatorenocardiac degenerative fibrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phosphate transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension, noncirrhotic, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid features-hepatocellular carcinoma predisposition syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial intrahepatic cholestasis type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Silver-Russell syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked agammaglobulinemia</a></div></span></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/38851997">EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver (EASL);
|
||
European Association for the Study of Diabetes (EASD);
|
||
European Association for the Study of Obesity (EASO)</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2024 Sep;81(3):492-542.
|
||
Epub 2024 Jun 7
|
||
doi: 10.1016/j.jhep.2024.04.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38851997" target="_blank">38851997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30285213">Hepatocellular carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel A,
|
||
Cervantes A,
|
||
Chau I,
|
||
Daniele B,
|
||
Llovet JM,
|
||
Meyer T,
|
||
Nault JC,
|
||
Neumann U,
|
||
Ricke J,
|
||
Sangro B,
|
||
Schirmacher P,
|
||
Verslype C,
|
||
Zech CJ,
|
||
Arnold D,
|
||
Martinelli E;
|
||
ESMO Guidelines Committee</span><br />
|
||
<span class="medgenPMjournal">Ann Oncol</span>
|
||
2018 Oct 1;29(Suppl 4):iv238-iv255.
|
||
doi: 10.1093/annonc/mdy308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30285213" target="_blank">30285213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427875">EASL 2017 Clinical Practice Guidelines on the management of hepatitis B virus infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2017 Aug;67(2):370-398.
|
||
Epub 2017 Apr 18
|
||
doi: 10.1016/j.jhep.2017.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427875" target="_blank">28427875</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hepatocellular%20carcinoma%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 (6641)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/hcc.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Hepatocellular Carcinoma, 2024</a></h3>
|
||
</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/38253289">Immunotherapy and transplantation for hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabrizian P,
|
||
Abdelrahim M,
|
||
Schwartz M</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2024 May;80(5):822-825.
|
||
Epub 2024 Jan 20
|
||
doi: 10.1016/j.jhep.2024.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253289" target="_blank">38253289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37103744">Hepatocellular Carcinoma: a Narrative Review on Current Knowledge and Future Prospects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alawyia B,
|
||
Constantinou C</span><br />
|
||
<span class="medgenPMjournal">Curr Treat Options Oncol</span>
|
||
2023 Jul;24(7):711-724.
|
||
Epub 2023 Apr 27
|
||
doi: 10.1007/s11864-023-01098-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37103744" target="_blank">37103744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36084663">Hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel A,
|
||
Meyer T,
|
||
Sapisochin G,
|
||
Salem R,
|
||
Saborowski A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Oct 15;400(10360):1345-1362.
|
||
Epub 2022 Sep 6
|
||
doi: 10.1016/S0140-6736(22)01200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36084663" target="_blank">36084663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34294938">Hepatocellular carcinoma: a clinical and pathological overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renne SL,
|
||
Sarcognato S,
|
||
Sacchi D,
|
||
Guido M,
|
||
Roncalli M,
|
||
Terracciano L,
|
||
Di Tommaso L</span><br />
|
||
<span class="medgenPMjournal">Pathologica</span>
|
||
2021 Jun;113(3):203-217.
|
||
doi: 10.32074/1591-951X-295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34294938" target="_blank">34294938</a><a href="/pmc/articles/PMC8299323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28108047">The diagnosis and treatment of hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartke J,
|
||
Johnson M,
|
||
Ghabril M</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2017 Mar;34(2):153-159.
|
||
Epub 2016 Dec 20
|
||
doi: 10.1053/j.semdp.2016.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28108047" target="_blank">28108047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatocellular%20carcinoma%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 (42878)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38086315">Hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dopazo C,
|
||
Søreide K,
|
||
Rangelova E,
|
||
Mieog S,
|
||
Carrion-Alvarez L,
|
||
Diaz-Nieto R,
|
||
Primavesi F,
|
||
Stättner S</span><br />
|
||
<span class="medgenPMjournal">Eur J Surg Oncol</span>
|
||
2024 Jan;50(1):107313.
|
||
Epub 2023 Dec 6
|
||
doi: 10.1016/j.ejso.2023.107313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38086315" target="_blank">38086315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36400469">Hepatocellular Carcinoma: New Developments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganesan P,
|
||
Kulik LM</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2023 Feb;27(1):85-102.
|
||
Epub 2022 Oct 18
|
||
doi: 10.1016/j.cld.2022.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36400469" target="_blank">36400469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36084663">Hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel A,
|
||
Meyer T,
|
||
Sapisochin G,
|
||
Salem R,
|
||
Saborowski A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Oct 15;400(10360):1345-1362.
|
||
Epub 2022 Sep 6
|
||
doi: 10.1016/S0140-6736(22)01200-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36084663" target="_blank">36084663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34324953">Epigenetics in hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagaraju GP,
|
||
Dariya B,
|
||
Kasa P,
|
||
Peela S,
|
||
El-Rayes BF</span><br />
|
||
<span class="medgenPMjournal">Semin Cancer Biol</span>
|
||
2022 Nov;86(Pt 3):622-632.
|
||
Epub 2021 Jul 26
|
||
doi: 10.1016/j.semcancer.2021.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34324953" target="_blank">34324953</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34294938">Hepatocellular carcinoma: a clinical and pathological overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Renne SL,
|
||
Sarcognato S,
|
||
Sacchi D,
|
||
Guido M,
|
||
Roncalli M,
|
||
Terracciano L,
|
||
Di Tommaso L</span><br />
|
||
<span class="medgenPMjournal">Pathologica</span>
|
||
2021 Jun;113(3):203-217.
|
||
doi: 10.32074/1591-951X-295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34294938" target="_blank">34294938</a><a href="/pmc/articles/PMC8299323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatocellular%20carcinoma%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 (32581)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35739268">Molecular correlates of clinical response and resistance to atezolizumab in combination with bevacizumab in advanced hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu AX,
|
||
Abbas AR,
|
||
de Galarreta MR,
|
||
Guan Y,
|
||
Lu S,
|
||
Koeppen H,
|
||
Zhang W,
|
||
Hsu CH,
|
||
He AR,
|
||
Ryoo BY,
|
||
Yau T,
|
||
Kaseb AO,
|
||
Burgoyne AM,
|
||
Dayyani F,
|
||
Spahn J,
|
||
Verret W,
|
||
Finn RS,
|
||
Toh HC,
|
||
Lujambio A,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2022 Aug;28(8):1599-1611.
|
||
Epub 2022 Jun 23
|
||
doi: 10.1038/s41591-022-01868-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35739268" target="_blank">35739268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33510460">Locoregional therapies in the era of molecular and immune treatments for hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Llovet JM,
|
||
De Baere T,
|
||
Kulik L,
|
||
Haber PK,
|
||
Greten TF,
|
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<div class="nl"><a target="_blank" href="/pubmed/25400438">Histopathology of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23674865">Mycotoxins are conventional and novel risk biomarkers for hepatocellular carcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Matsuda Y,
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Wakai T,
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Kubota M,
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Osawa M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatocellular%20carcinoma%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 (34175)</a></div></div>
|
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</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/35255263">Clinical characteristics, surveillance, treatment allocation, and outcomes of non-alcoholic fatty liver disease-related hepatocellular carcinoma: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tan DJH,
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Ng CH,
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Lin SY,
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Pan XH,
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Tay P,
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Lim WH,
|
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Teng M,
|
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Syn N,
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Lim G,
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Yong JN,
|
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Quek J,
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Xiao J,
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||
Dan YY,
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Siddiqui MS,
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Sanyal AJ,
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Muthiah MD,
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Loomba R,
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Huang DQ</span><br />
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<span class="medgenPMjournal">Lancet Oncol</span>
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2022 Apr;23(4):521-530.
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||
Epub 2022 Mar 4
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||
doi: 10.1016/S1470-2045(22)00078-X.
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<span class="bold">PMID: </span><a href="/pubmed/35255263" target="_blank">35255263</a><a href="/pmc/articles/PMC9718369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35060504">Metabolomic biomarkers for hepatocellular carcinoma: A systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Feng N,
|
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Yu F,
|
||
Yu F,
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Feng Y,
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Zhu X,
|
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Xie Z,
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Zhai Y</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
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2022 Jan 21;101(3):e28510.
|
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doi: 10.1097/MD.0000000000028510.
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<span class="bold">PMID: </span><a href="/pubmed/35060504" target="_blank">35060504</a><a href="/pmc/articles/PMC8772637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33965578">Incidence of Hepatocellular Carcinoma in Patients With Nonalcoholic Fatty Liver Disease: A Systematic Review, Meta-analysis, and Meta-regression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orci LA,
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Sanduzzi-Zamparelli M,
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Caballol B,
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Sapena V,
|
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Colucci N,
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Torres F,
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Bruix J,
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Reig M,
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Toso C</span><br />
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<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
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||
Epub 2021 May 28
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||
doi: 10.1016/j.cgh.2021.05.002.
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||
<span class="bold">PMID: </span><a href="/pubmed/33965578" target="_blank">33965578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33302158">Milestones in the treatment of hepatocellular carcinoma: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gryziak M,
|
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Woźniak K,
|
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Kraj L,
|
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Stec R</span><br />
|
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<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
|
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2021 Jan;157:103179.
|
||
Epub 2020 Nov 18
|
||
doi: 10.1016/j.critrevonc.2020.103179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33302158" target="_blank">33302158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30776212">Humanistic and economic burden of hepatocellular carcinoma: systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohn CG,
|
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Singh P,
|
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Korytowsky B,
|
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Caranfa JT,
|
||
Miller JD,
|
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Sill BE,
|
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Marshall AC,
|
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Parikh ND</span><br />
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<span class="medgenPMjournal">Am J Manag Care</span>
|
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2019 Feb;25(2 Spec No.):SP61-SP73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30776212" target="_blank">30776212</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hepatocellular%20carcinoma%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 (1461)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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||
|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<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>
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<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=C2239176%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (89)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A1%5F3" target="_blank">Immunohistochemistry (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (90)</a></li>
|
||
<li><a href="/gtr/tests?term=C2239176%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2239176%5bDISCUI%5d" target="_blank">See all (133)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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<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=114550" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=88673" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hepatocellular%20carcinoma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<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=(%22hepatocellular%20carcinoma%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(%22Hepatocellular%20carcinoma%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nccn.org/professionals/physician_gls/pdf/hcc.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Hepatocellular Carcinoma, 2024</div></li></ul></div>
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</div>
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||
<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=116806%20147280%20164860%20171834%20191170%20601763%20603816%20604584%20611731" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=324[geneid]" target="_blank">View APC variations in ClinVar</a></li><li><a href="/clinvar/?term=841[geneid]" target="_blank">View CASP8 variations in ClinVar</a></li><li><a href="/clinvar/?term=1499[geneid]" target="_blank">View CTNNB1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3482[geneid]" target="_blank">View IGF2R variations in ClinVar</a></li><li><a href="/clinvar/?term=4233[geneid]" target="_blank">View MET variations in ClinVar</a></li><li><a href="/clinvar/?term=5157[geneid]" target="_blank">View PDGFRL variations in ClinVar</a></li><li><a href="/clinvar/?term=5290[geneid]" target="_blank">View PIK3CA variations in ClinVar</a></li><li><a href="/clinvar/?term=7157[geneid]" target="_blank">View TP53 variations in ClinVar</a></li><li><a href="/clinvar/?term=8312[geneid]" target="_blank">View AXIN1 variations in ClinVar</a></li><li><a href="/nuccore/171460919,212720875,226442848,237858742,238814318,262072976,293651587,299116992,300244558" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=114550" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hepatocellular_carcinoma" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hepatocellular%20carcinoma" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16773/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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|
||
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|
||
<a href="/pubmed/clinical?term=Hepatocellular%20carcinoma" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Hepatocellular%20carcinoma%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<li class="brieflinkpopper">
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|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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