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<meta name="keywords" content="C4310747, cholestasis, progressive familial intrahepatic, 5, cholestasis, progressive familial intrahepatic, 5; pfic5, cholestasis, progressive familial intrahepatic, type 5, disease or syndrome, nr1h4, nr1h4 deficiency, nr1h4 progressive familial intrahepatic cholestasis, pfic5, progressive familial intrahepatic cholestasis caused by mutation in nr1h4, progressive familial intrahepatic cholestasis type 5, 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-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). 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=934714
|
||
ConceptID=C4310747
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cholestasis, progressive familial intrahepatic, 5<span class="h1sub">(PFIC5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934714</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:">C4310747</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>PFIC5</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="NR1H4 - ID: 9971 - NCBI Gene" href="/gene/9971" class="medgenPMinfo">NR1H4</a> (12q23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014884" target="_blank">MONDO:0014884</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617049" target="_blank">617049</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=480476">ORPHA480476</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). 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>
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||
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||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_416"><div><strong>Ascites</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416</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.">C0003962</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416">Feature record</a> | <a href="/medgen?term=%22Ascites%22%5BClinical%20Features%5D%20OR%20416%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_88444"><div><strong>Liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88444</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.">C0085605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88444">Feature record</a> | <a href="/medgen?term=%22Liver%20failure%22%5BClinical%20Features%5D%20OR%2088444%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208879"><div><strong>Prolonged prothrombin time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208879</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.">C0853225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208879">Feature record</a> | <a href="/medgen?term=%22Prolonged%20prothrombin%20time%22%5BClinical%20Features%5D%20OR%20208879%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10805"><div><strong>Pleural effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10805</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.">C0032227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an excessive amount of fluid in the pleural cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10805">Feature record</a> | <a href="/medgen?term=%22Pleural%20effusion%22%5BClinical%20Features%5D%20OR%2010805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%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_1802066"><div><strong>Hyperammonemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802066</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.">C5574662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of ammonia in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hyperammonemia%22%5BClinical%20Features%5D%20OR%201802066%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged prothrombin time</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_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_1802066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperammonemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</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_416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascites</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88444" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver failure</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleural effusion</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C4310747[DISCUI]&test_type=Clinical" ref="ncbi_uid=934714">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934714" target="_blank" href="/omim/603826">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK584020/" ref="ncbi_uid=934714">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934714" ref="ncbi_uid=934714">V</a></span></span><span class="TLline">Cholestasis, progressive familial intrahepatic, 5</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/980744" ref="tree=MeSH" title="MedGen record for Familial intrahepatic cholestasis">Familial intrahepatic cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/75668" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis</a></span><ul><li><span class="matched_ds">Cholestasis, progressive familial intrahepatic, 5</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38323732">Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn JW,
|
||
Lee H,
|
||
Shin M,
|
||
Seong MW,
|
||
Moon JS,
|
||
Ko JS</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2024 May;39(5):964-974.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1111/jgh.16505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38323732" target="_blank">38323732</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 />
|
||
<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/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%205)%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 (12)</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/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/33384548">Molecular overview of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amirneni S,
|
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Haep N,
|
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Gad MA,
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Soto-Gutierrez A,
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Squires JE,
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Florentino RM</span><br />
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<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2020 Dec 21;26(47):7470-7484.
|
||
doi: 10.3748/wjg.v26.i47.7470.
|
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<span class="bold">PMID: </span><a href="/pubmed/33384548" target="_blank">33384548</a><a href="/pmc/articles/PMC7754551" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30236549">Systematic review of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker A,
|
||
Kerkar N,
|
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Todorova L,
|
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Kamath BM,
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Houwen RHJ</span><br />
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<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
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2019 Feb;43(1):20-36.
|
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Epub 2018 Sep 17
|
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doi: 10.1016/j.clinre.2018.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236549" target="_blank">30236549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30254403">Pediatric hepatocellular carcinoma.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R,
|
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Verma SK</span><br />
|
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<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2018 Sep 21;24(35):3980-3999.
|
||
doi: 10.3748/wjg.v24.i35.3980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30254403" target="_blank">30254403</a><a href="/pmc/articles/PMC6148423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (98)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35942658">The cholestatic infant: updates on diagnosis and genetics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wehrman A,
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Lee CK</span><br />
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<span class="medgenPMjournal">Curr Opin Pediatr</span>
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2022 Oct 1;34(5):491-495.
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Epub 2022 Aug 3
|
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doi: 10.1097/MOP.0000000000001156.
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||
<span class="bold">PMID: </span><a href="/pubmed/35942658" target="_blank">35942658</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/30236549">Systematic review of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker A,
|
||
Kerkar N,
|
||
Todorova L,
|
||
Kamath BM,
|
||
Houwen RHJ</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2019 Feb;43(1):20-36.
|
||
Epub 2018 Sep 17
|
||
doi: 10.1016/j.clinre.2018.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236549" target="_blank">30236549</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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen HL,
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Wu SH,
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Hsu SH,
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Liou BY,
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Chen HL,
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Chang MH</span><br />
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<span class="medgenPMjournal">J Biomed Sci</span>
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2018 Oct 26;25(1):75.
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doi: 10.1186/s12929-018-0475-8.
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<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/25957621">The Cholangiopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lazaridis KN,
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LaRusso NF</span><br />
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<span class="medgenPMjournal">Mayo Clin Proc</span>
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2015 Jun;90(6):791-800.
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Epub 2015 May 6
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<span class="bold">PMID: </span><a href="/pubmed/25957621" target="_blank">25957621</a><a href="/pmc/articles/PMC4533104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (105)</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,
|
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Mayerhofer C,
|
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Aldrian D,
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Okamoto T,
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Müller T,
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Vogel GF</span><br />
|
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<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/30236549">Systematic review of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker A,
|
||
Kerkar N,
|
||
Todorova L,
|
||
Kamath BM,
|
||
Houwen RHJ</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2019 Feb;43(1):20-36.
|
||
Epub 2018 Sep 17
|
||
doi: 10.1016/j.clinre.2018.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236549" target="_blank">30236549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30254403">Pediatric hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R,
|
||
Verma SK</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2018 Sep 21;24(35):3980-3999.
|
||
doi: 10.3748/wjg.v24.i35.3980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30254403" target="_blank">30254403</a><a href="/pmc/articles/PMC6148423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (56)</a></div><h3 class="subhead">Prognosis</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/30236549">Systematic review of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker A,
|
||
Kerkar N,
|
||
Todorova L,
|
||
Kamath BM,
|
||
Houwen RHJ</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2019 Feb;43(1):20-36.
|
||
Epub 2018 Sep 17
|
||
doi: 10.1016/j.clinre.2018.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236549" target="_blank">30236549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30254403">Pediatric hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna R,
|
||
Verma SK</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2018 Sep 21;24(35):3980-3999.
|
||
doi: 10.3748/wjg.v24.i35.3980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30254403" target="_blank">30254403</a><a href="/pmc/articles/PMC6148423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/28276299">Immunohistochemical Analysis of the Stem Cell Marker LGR5 in Pediatric Liver Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khan Z,
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Orr A,
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Michalopoulos GK,
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Ranganathan S</span><br />
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<span class="medgenPMjournal">Pediatr Dev Pathol</span>
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2017 Jan-Feb;20(1):16-27.
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<span class="bold">PMID: </span><a href="/pubmed/28276299" target="_blank">28276299</a><a href="/pmc/articles/PMC5040613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26517915">Lipid flopping in the liver.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Linton KJ</span><br />
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<span class="medgenPMjournal">Biochem Soc Trans</span>
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2015 Oct;43(5):1003-10.
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<span class="bold">PMID: </span><a href="/pubmed/26517915" target="_blank">26517915</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (70)</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,
|
||
Valamparampil JJ,
|
||
Rinaldhy K,
|
||
Menon J,
|
||
Thambithurai R,
|
||
Namasivayam S,
|
||
Kaliamoorthy I,
|
||
Rela M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
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,
|
||
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/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,
|
||
O'Hara S,
|
||
Ferri Grazzi E,
|
||
Murray KF,
|
||
Schattenberg JM,
|
||
Ventura E,
|
||
Karakaidos M,
|
||
Taylor A,
|
||
Brrang H,
|
||
Dhawan A,
|
||
Willemse J,
|
||
Finnegan A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
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/28276299">Immunohistochemical Analysis of the Stem Cell Marker LGR5 in Pediatric Liver Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan Z,
|
||
Orr A,
|
||
Michalopoulos GK,
|
||
Ranganathan S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2017 Jan-Feb;20(1):16-27.
|
||
doi: 10.1177/1093526616686244.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28276299" target="_blank">28276299</a><a href="/pmc/articles/PMC5040613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (59)</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 class="nl"><a target="_blank" href="/pubmed/30236549">Systematic review of progressive familial intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker A,
|
||
Kerkar N,
|
||
Todorova L,
|
||
Kamath BM,
|
||
Houwen RHJ</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2019 Feb;43(1):20-36.
|
||
Epub 2018 Sep 17
|
||
doi: 10.1016/j.clinre.2018.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30236549" target="_blank">30236549</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cholestasis%2C%20progressive%20familial%20intrahepatic%2C%205%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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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_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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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=C4310747%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310747%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310747%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310747%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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</ul></div>
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</div>
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||
<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=617049" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=480476" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cholestasis,%20progressive%20familial%20intrahepatic,%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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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>
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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%205)%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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|
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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=603826" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9971[geneid]" target="_blank">View NR1H4 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617049" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cholestasis_progressive_familial_intrahepatic_5_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cholestasis,%20progressive%20familial%20intrahepatic,%205" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17867/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
|
||
<li>
|
||
<a href="/pubmed/36108118" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cholestasis,%20progressive%20familial%20intrahepatic,%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cholestasis,%20progressive%20familial%20intrahepatic,%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=934714" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=934714" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
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