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<meta name="keywords" content="C5562045, cholestasis, progressive familial intrahepatic, 8, disease or syndrome, kif12, pfic8, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794255
|
||
ConceptID=C5562045
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cholestasis, progressive familial intrahepatic, 8<span class="h1sub">(PFIC8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794255</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5562045</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="KIF12 - ID: 113220 - NCBI Gene" href="/gene/113220" class="medgenPMinfo">KIF12</a> (9q32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030505" target="_blank">MONDO:0030505</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619662" target="_blank">619662</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">Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [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_9375"><div><strong>Portal hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9375</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.">C0020541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased pressure in the portal vein.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9375">Feature record</a> | <a href="/medgen?term=%22Portal%20hypertension%22%5BClinical%20Features%5D%20OR%209375%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_925"><div><strong>Cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>925</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.">C0008370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of bile flow due to obstruction in bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/925">Feature record</a> | <a href="/medgen?term=%22Cholestasis%22%5BClinical%20Features%5D%20OR%20925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5027"><div><strong>Esophageal varix</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5027</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.">C0014867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extreme dilation of the submucusoal veins in the lower portion of the esophagus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5027">Feature record</a> | <a href="/medgen?term=%22Esophageal%20varix%22%5BClinical%20Features%5D%20OR%205027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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.">C0023890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116093"><div><strong>Hepatic fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116093</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.">C0239946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116093">Feature record</a> | <a href="/medgen?term=%22Hepatic%20fibrosis%22%5BClinical%20Features%5D%20OR%20116093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120603"><div><strong>Bile duct proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120603</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.">C0267818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proliferative changes of the bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120603">Feature record</a> | <a href="/medgen?term=%22Bile%20duct%20proliferation%22%5BClinical%20Features%5D%20OR%20120603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868315"><div><strong>Hepatic bridging fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868315</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.">C4022709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatic fibrosis that reaches from a portal area to another portal area.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868315">Feature record</a> | <a href="/medgen?term=%22Hepatic%20bridging%20fibrosis%22%5BClinical%20Features%5D%20OR%20868315%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3036"><div><strong>Sclerosing cholangitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3036</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.">C0008313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3036">Feature record</a> | <a href="/medgen?term=%22Sclerosing%20cholangitis%22%5BClinical%20Features%5D%20OR%203036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5687"><div><strong>Hypercholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5687</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.">C0020443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5687">Feature record</a> | <a href="/medgen?term=%22Hypercholesterolemia%22%5BClinical%20Features%5D%20OR%205687%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57497"><div><strong>Elevated circulating aspartate aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57497</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.">C0151904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57497">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aspartate%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57740"><div><strong>Elevated circulating alanine aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57740</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.">C0151905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high concentration in the circulation of alanine aminotransferase (ALT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57740">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alanine%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65916"><div><strong>Elevated circulating alpha-fetoprotein concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65916</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.">C0235971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65916">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alpha-fetoprotein%20concentration%22%5BClinical%20Features%5D%20OR%2065916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82787"><div><strong>Conjugated hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82787</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.">C0268307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally high level of conjugated bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82787">Feature record</a> | <a href="/medgen?term=%22Conjugated%20hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2082787%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_727252"><div><strong>Elevated circulating alkaline phosphatase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>727252</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.">C1314665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased serum levels of alkaline phosphatase activity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/727252">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alkaline%20phosphatase%20concentration%22%5BClinical%20Features%5D%20OR%20727252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868605"><div><strong>Increased serum bile acid concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868605</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.">C4023004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the concentration of bile acid in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868605">Feature record</a> | <a href="/medgen?term=%22Increased%20serum%20bile%20acid%20concentration%22%5BClinical%20Features%5D%20OR%20868605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370086"><div><strong>Elevated gamma-glutamyltransferase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370086</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.">C4476869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370086">Feature record</a> | <a href="/medgen?term=%22Elevated%20gamma-glutamyltransferase%20level%22%5BClinical%20Features%5D%20OR%201370086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19534"><div><strong>Pruritus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19534</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.">C0033774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19534">Feature record</a> | <a href="/medgen?term=%22Pruritus%22%5BClinical%20Features%5D%20OR%2019534%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjugated hyperbilirubinemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alanine aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_727252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alkaline phosphatase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alpha-fetoprotein concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aspartate aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated gamma-glutamyltransferase level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased serum bile acid concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bile duct proliferation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esophageal varix</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic bridging fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerosing cholangitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pruritus</a></span></li></ul></li></ul></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/34840097">Single-center experience in management of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varol Fİ,
|
||
Selimoğlu MA,
|
||
Güngör Ş,
|
||
Yılmaz S,
|
||
Tekedereli İ</span><br />
|
||
<span class="medgenPMjournal">Arab J Gastroenterol</span>
|
||
2021 Dec;22(4):310-315.
|
||
Epub 2021 Nov 25
|
||
doi: 10.1016/j.ajg.2021.05.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34840097" target="_blank">34840097</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33065587">Disease Course and Treatment Response of Eosinophilic Gastrointestinal Diseases in Children With Liver Transplantation: Long-Term Follow-Up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ozdogan E,
|
||
Doganay L,
|
||
Can D,
|
||
Arikan C</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2021 Jan 1;116(1):188-197.
|
||
doi: 10.14309/ajg.0000000000000934.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33065587" target="_blank">33065587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30367658">Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HL,
|
||
Wu SH,
|
||
Hsu SH,
|
||
Liou BY,
|
||
Chen HL,
|
||
Chang MH</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2018 Oct 26;25(1):75.
|
||
doi: 10.1186/s12929-018-0475-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30367658" target="_blank">30367658</a><a href="/pmc/articles/PMC6203212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38723644">Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miethke AG,
|
||
Moukarzel A,
|
||
Porta G,
|
||
Covarrubias Esquer J,
|
||
Czubkowski P,
|
||
Ordonez F,
|
||
Mosca A,
|
||
Aqul AA,
|
||
Squires RH,
|
||
Sokal E,
|
||
D'Agostino D,
|
||
Baumann U,
|
||
D'Antiga L,
|
||
Kasi N,
|
||
Laborde N,
|
||
Arikan C,
|
||
Lin CH,
|
||
Gilmour S,
|
||
Mittal N,
|
||
Chiou FK,
|
||
Horslen SP,
|
||
Huber WD,
|
||
Jaecklin T,
|
||
Nunes T,
|
||
Lascau A,
|
||
Longpre L,
|
||
Mogul DB,
|
||
Garner W,
|
||
Vig P,
|
||
Hupertz VF,
|
||
Gonzalez-Peralta RP,
|
||
Ekong U,
|
||
Hartley J,
|
||
Laverdure N,
|
||
Ovchinsky N,
|
||
Thompson RJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2024 Jul;9(7):620-631.
|
||
Epub 2024 May 6
|
||
doi: 10.1016/S2468-1253(24)00080-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38723644" target="_blank">38723644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38006895">Paediatric research sets new standards for therapy in paediatric and adult cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeyaraj R,
|
||
Maher ER,
|
||
Kelly D</span><br />
|
||
<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
|
||
2024 Jan;8(1):75-84.
|
||
Epub 2023 Nov 22
|
||
doi: 10.1016/S2352-4642(23)00259-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38006895" target="_blank">38006895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780807">Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson RJ,
|
||
Arnell H,
|
||
Artan R,
|
||
Baumann U,
|
||
Calvo PL,
|
||
Czubkowski P,
|
||
Dalgic B,
|
||
D'Antiga L,
|
||
Durmaz Ö,
|
||
Fischler B,
|
||
Gonzalès E,
|
||
Grammatikopoulos T,
|
||
Gupte G,
|
||
Hardikar W,
|
||
Houwen RHJ,
|
||
Kamath BM,
|
||
Karpen SJ,
|
||
Kjems L,
|
||
Lacaille F,
|
||
Lachaux A,
|
||
Lainka E,
|
||
Mack CL,
|
||
Mattsson JP,
|
||
McKiernan P,
|
||
Özen H,
|
||
Rajwal SR,
|
||
Roquelaure B,
|
||
Shagrani M,
|
||
Shteyer E,
|
||
Soufi N,
|
||
Sturm E,
|
||
Tessier ME,
|
||
Verkade HJ,
|
||
Horn P</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2022 Sep;7(9):830-842.
|
||
Epub 2022 Jul 1
|
||
doi: 10.1016/S2468-1253(22)00093-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780807" target="_blank">35780807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35051344">Biliary diversion in progressive familial intrahepatic cholestasis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bolia R,
|
||
Goel AD,
|
||
Sharma V,
|
||
Srivastava A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Gastroenterol Hepatol</span>
|
||
2022 Feb;16(2):163-172.
|
||
Epub 2022 Feb 15
|
||
doi: 10.1080/17474124.2022.2032660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35051344" target="_blank">35051344</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%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 (56)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780807">Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson RJ,
|
||
Arnell H,
|
||
Artan R,
|
||
Baumann U,
|
||
Calvo PL,
|
||
Czubkowski P,
|
||
Dalgic B,
|
||
D'Antiga L,
|
||
Durmaz Ö,
|
||
Fischler B,
|
||
Gonzalès E,
|
||
Grammatikopoulos T,
|
||
Gupte G,
|
||
Hardikar W,
|
||
Houwen RHJ,
|
||
Kamath BM,
|
||
Karpen SJ,
|
||
Kjems L,
|
||
Lacaille F,
|
||
Lachaux A,
|
||
Lainka E,
|
||
Mack CL,
|
||
Mattsson JP,
|
||
McKiernan P,
|
||
Özen H,
|
||
Rajwal SR,
|
||
Roquelaure B,
|
||
Shagrani M,
|
||
Shteyer E,
|
||
Soufi N,
|
||
Sturm E,
|
||
Tessier ME,
|
||
Verkade HJ,
|
||
Horn P</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2022 Sep;7(9):830-842.
|
||
Epub 2022 Jul 1
|
||
doi: 10.1016/S2468-1253(22)00093-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780807" target="_blank">35780807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30367658">Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen HL,
|
||
Wu SH,
|
||
Hsu SH,
|
||
Liou BY,
|
||
Chen HL,
|
||
Chang MH</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2018 Oct 26;25(1):75.
|
||
doi: 10.1186/s12929-018-0475-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30367658" target="_blank">30367658</a><a href="/pmc/articles/PMC6203212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23574360">Novel mutation in progressive familial intrahepatic cholestasis III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chinnaratha MA,
|
||
Venugopal K,
|
||
de Boer WB,
|
||
Macquillan G</span><br />
|
||
<span class="medgenPMjournal">Liver Int</span>
|
||
2013 Sep;33(8):1293.
|
||
Epub 2013 Apr 10
|
||
doi: 10.1111/liv.12174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23574360" target="_blank">23574360</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15598335">Progressive intrahepatic cholestasis: mechanisms, diagnosis and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shneider BL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2004 Dec;8(6):609-12.
|
||
doi: 10.1111/j.1399-3046.2004.00240.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15598335" target="_blank">15598335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15062197">Benign recurrent intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luketic VA,
|
||
Shiffman ML</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2004 Feb;8(1):133-49, vii.
|
||
doi: 10.1016/S1089-3261(03)00133-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15062197" target="_blank">15062197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38723644">Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miethke AG,
|
||
Moukarzel A,
|
||
Porta G,
|
||
Covarrubias Esquer J,
|
||
Czubkowski P,
|
||
Ordonez F,
|
||
Mosca A,
|
||
Aqul AA,
|
||
Squires RH,
|
||
Sokal E,
|
||
D'Agostino D,
|
||
Baumann U,
|
||
D'Antiga L,
|
||
Kasi N,
|
||
Laborde N,
|
||
Arikan C,
|
||
Lin CH,
|
||
Gilmour S,
|
||
Mittal N,
|
||
Chiou FK,
|
||
Horslen SP,
|
||
Huber WD,
|
||
Jaecklin T,
|
||
Nunes T,
|
||
Lascau A,
|
||
Longpre L,
|
||
Mogul DB,
|
||
Garner W,
|
||
Vig P,
|
||
Hupertz VF,
|
||
Gonzalez-Peralta RP,
|
||
Ekong U,
|
||
Hartley J,
|
||
Laverdure N,
|
||
Ovchinsky N,
|
||
Thompson RJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2024 Jul;9(7):620-631.
|
||
Epub 2024 May 6
|
||
doi: 10.1016/S2468-1253(24)00080-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38723644" target="_blank">38723644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36550572">Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen R,
|
||
Yang FX,
|
||
Tan YF,
|
||
Deng M,
|
||
Li H,
|
||
Xu Y,
|
||
Ouyang WX,
|
||
Song YZ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Dec 22;17(1):445.
|
||
doi: 10.1186/s13023-022-02597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36550572" target="_blank">36550572</a><a href="/pmc/articles/PMC9773540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780807">Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson RJ,
|
||
Arnell H,
|
||
Artan R,
|
||
Baumann U,
|
||
Calvo PL,
|
||
Czubkowski P,
|
||
Dalgic B,
|
||
D'Antiga L,
|
||
Durmaz Ö,
|
||
Fischler B,
|
||
Gonzalès E,
|
||
Grammatikopoulos T,
|
||
Gupte G,
|
||
Hardikar W,
|
||
Houwen RHJ,
|
||
Kamath BM,
|
||
Karpen SJ,
|
||
Kjems L,
|
||
Lacaille F,
|
||
Lachaux A,
|
||
Lainka E,
|
||
Mack CL,
|
||
Mattsson JP,
|
||
McKiernan P,
|
||
Özen H,
|
||
Rajwal SR,
|
||
Roquelaure B,
|
||
Shagrani M,
|
||
Shteyer E,
|
||
Soufi N,
|
||
Sturm E,
|
||
Tessier ME,
|
||
Verkade HJ,
|
||
Horn P</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2022 Sep;7(9):830-842.
|
||
Epub 2022 Jul 1
|
||
doi: 10.1016/S2468-1253(22)00093-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780807" target="_blank">35780807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34942279">Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mínguez Rodríguez B,
|
||
Molera Busoms C,
|
||
Martorell Sampol L,
|
||
García Romero R,
|
||
Colomé Rivero G,
|
||
Martín de Carpi J</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Hepatol</span>
|
||
2022 Oct;45(8):585-592.
|
||
Epub 2021 Dec 20
|
||
doi: 10.1016/j.gastrohep.2021.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34942279" target="_blank">34942279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38723644">Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miethke AG,
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Moukarzel A,
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Porta G,
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Covarrubias Esquer J,
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Czubkowski P,
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Ordonez F,
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Mosca A,
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Aqul AA,
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Squires RH,
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Sokal E,
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D'Agostino D,
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Baumann U,
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D'Antiga L,
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Kasi N,
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Laborde N,
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Arikan C,
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Lin CH,
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Gilmour S,
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Mittal N,
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Chiou FK,
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Horslen SP,
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Huber WD,
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Jaecklin T,
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Nunes T,
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Lascau A,
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Longpre L,
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Mogul DB,
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Garner W,
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Vig P,
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Hupertz VF,
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Gonzalez-Peralta RP,
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Ekong U,
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Hartley J,
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Laverdure N,
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Ovchinsky N,
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Thompson RJ</span><br />
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<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
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2024 Jul;9(7):620-631.
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Epub 2024 May 6
|
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doi: 10.1016/S2468-1253(24)00080-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/38723644" target="_blank">38723644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38006895">Paediatric research sets new standards for therapy in paediatric and adult cholestasis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jeyaraj R,
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Maher ER,
|
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Kelly D</span><br />
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<span class="medgenPMjournal">Lancet Child Adolesc Health</span>
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2024 Jan;8(1):75-84.
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Epub 2023 Nov 22
|
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doi: 10.1016/S2352-4642(23)00259-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38006895" target="_blank">38006895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36550572">Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen R,
|
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Yang FX,
|
||
Tan YF,
|
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Deng M,
|
||
Li H,
|
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Xu Y,
|
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Ouyang WX,
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Song YZ</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Dec 22;17(1):445.
|
||
doi: 10.1186/s13023-022-02597-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36550572" target="_blank">36550572</a><a href="/pmc/articles/PMC9773540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34441060">Long-Term Outcome after Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gül-Klein S,
|
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Öllinger R,
|
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Schmelzle M,
|
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Pratschke J,
|
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Schöning W</span><br />
|
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<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2021 Aug 22;57(8)
|
||
doi: 10.3390/medicina57080854.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34441060" target="_blank">34441060</a><a href="/pmc/articles/PMC8400732" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33651176">Long-term outcome following cholecystocolostomy in 41 patients with progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Q,
|
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Chong C,
|
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Sun R,
|
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Yin T,
|
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Huang T,
|
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Diao M,
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Li L</span><br />
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<span class="medgenPMjournal">Pediatr Surg Int</span>
|
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2021 Jun;37(6):723-730.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1007/s00383-021-04871-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33651176" target="_blank">33651176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38723644">Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miethke AG,
|
||
Moukarzel A,
|
||
Porta G,
|
||
Covarrubias Esquer J,
|
||
Czubkowski P,
|
||
Ordonez F,
|
||
Mosca A,
|
||
Aqul AA,
|
||
Squires RH,
|
||
Sokal E,
|
||
D'Agostino D,
|
||
Baumann U,
|
||
D'Antiga L,
|
||
Kasi N,
|
||
Laborde N,
|
||
Arikan C,
|
||
Lin CH,
|
||
Gilmour S,
|
||
Mittal N,
|
||
Chiou FK,
|
||
Horslen SP,
|
||
Huber WD,
|
||
Jaecklin T,
|
||
Nunes T,
|
||
Lascau A,
|
||
Longpre L,
|
||
Mogul DB,
|
||
Garner W,
|
||
Vig P,
|
||
Hupertz VF,
|
||
Gonzalez-Peralta RP,
|
||
Ekong U,
|
||
Hartley J,
|
||
Laverdure N,
|
||
Ovchinsky N,
|
||
Thompson RJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2024 Jul;9(7):620-631.
|
||
Epub 2024 May 6
|
||
doi: 10.1016/S2468-1253(24)00080-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38723644" target="_blank">38723644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37675889">Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasudevan AK,
|
||
Shanmugam N,
|
||
Rammohan A,
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||
Valamparampil JJ,
|
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Rinaldhy K,
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Menon J,
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Thambithurai R,
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Namasivayam S,
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||
Kaliamoorthy I,
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||
Rela M</span><br />
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||
<span class="medgenPMjournal">Pediatr Transplant</span>
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||
2023 Dec;27(8):e14600.
|
||
Epub 2023 Sep 7
|
||
doi: 10.1111/petr.14600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37675889" target="_blank">37675889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35780807">Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson RJ,
|
||
Arnell H,
|
||
Artan R,
|
||
Baumann U,
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Calvo PL,
|
||
Czubkowski P,
|
||
Dalgic B,
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||
D'Antiga L,
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||
Durmaz Ö,
|
||
Fischler B,
|
||
Gonzalès E,
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||
Grammatikopoulos T,
|
||
Gupte G,
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||
Hardikar W,
|
||
Houwen RHJ,
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||
Kamath BM,
|
||
Karpen SJ,
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Kjems L,
|
||
Lacaille F,
|
||
Lachaux A,
|
||
Lainka E,
|
||
Mack CL,
|
||
Mattsson JP,
|
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McKiernan P,
|
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Özen H,
|
||
Rajwal SR,
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Roquelaure B,
|
||
Shagrani M,
|
||
Shteyer E,
|
||
Soufi N,
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Sturm E,
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Tessier ME,
|
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Verkade HJ,
|
||
Horn P</span><br />
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<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
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||
2022 Sep;7(9):830-842.
|
||
Epub 2022 Jul 1
|
||
doi: 10.1016/S2468-1253(22)00093-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35780807" target="_blank">35780807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35109890">Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mighiu C,
|
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O'Hara S,
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Ferri Grazzi E,
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Murray KF,
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Schattenberg JM,
|
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Ventura E,
|
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Karakaidos M,
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Taylor A,
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||
Brrang H,
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Dhawan A,
|
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Willemse J,
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Finnegan A</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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||
2022 Feb 2;17(1):32.
|
||
doi: 10.1186/s13023-022-02177-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35109890" target="_blank">35109890</a><a href="/pmc/articles/PMC8809495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34840097">Single-center experience in management of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varol Fİ,
|
||
Selimoğlu MA,
|
||
Güngör Ş,
|
||
Yılmaz S,
|
||
Tekedereli İ</span><br />
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||
<span class="medgenPMjournal">Arab J Gastroenterol</span>
|
||
2021 Dec;22(4):310-315.
|
||
Epub 2021 Nov 25
|
||
doi: 10.1016/j.ajg.2021.05.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34840097" target="_blank">34840097</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%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 (41)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37756114">Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavallar AM,
|
||
Mayerhofer C,
|
||
Aldrian D,
|
||
Okamoto T,
|
||
Müller T,
|
||
Vogel GF</span><br />
|
||
<span class="medgenPMjournal">Hepatol Commun</span>
|
||
2023 Oct 1;7(10)
|
||
Epub 2023 Sep 27
|
||
doi: 10.1097/HC9.0000000000000286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37756114" target="_blank">37756114</a><a href="/pmc/articles/PMC10531212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35051344">Biliary diversion in progressive familial intrahepatic cholestasis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bolia R,
|
||
Goel AD,
|
||
Sharma V,
|
||
Srivastava A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Gastroenterol Hepatol</span>
|
||
2022 Feb;16(2):163-172.
|
||
Epub 2022 Feb 15
|
||
doi: 10.1080/17474124.2022.2032660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35051344" target="_blank">35051344</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5562045%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5562045%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5562045%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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</ul></div>
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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=619662" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cholestasis,%20progressive%20familial%20intrahepatic,%208" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cholestasis%2C%20progressive%20familial%20intrahepatic%2C%208)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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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=611278" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=113220[geneid]" target="_blank">View KIF12 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619662" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a href="/pubmed/36108118" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Cholestasis,%20progressive%20familial%20intrahepatic,%208" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Cholestasis,%20progressive%20familial%20intrahepatic,%208%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca2f184f3725e59771e34">Cholestasis, progressive familial intrahepatic, 8</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cca2f084f3725e5977191d">C5562045[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cca2ef84f3725e597714a7">C5562043[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(1)</span></a>
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<div class="tertiary">ClinVar</div>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cca2ed84f3725e59770ef5">C5561965[trait identifier] AND "Baylor Genetics"[submitter] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cca2ecf4a390645e7ecf3f">Cholestasis, progressive familial intrahepatic, 6</a>
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