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<meta name="keywords" content="C1865643, abcb4, abcb4 progressive familial intrahepatic cholestasis, abcb4-related intrahepatic cholestasis, cholestasis, progressive familial intrahepatic 3, cholestasis, progressive familial intrahepatic, 3, cholestasis, progressive familial intrahepatic, type 3, cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase, disease or syndrome, low gamma-gt familial intrahepatic cholestasis, mdr3 deficiency, pfic3, pfic3 progressive familial intrahepatic cholestasis type 3, progressive familial intrahepatic cholestasis 3 (pfic 3), progressive familial intrahepatic cholestasis 3 (pfic3), progressive familial intrahepatic cholestasis caused by mutation in abcb4, progressive familial intrahepatic cholestasis type 3, progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase, 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="Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.\n\nThe signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.\n\nIn addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.\n\nThere are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.\n\nSigns and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).\n\nProgressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=356333
|
||
ConceptID=C1865643
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive familial intrahepatic cholestasis type 3<span class="h1sub">(PFIC3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356333</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:">C1865643</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>Low Gamma-GT Familial Intrahepatic Cholestasis; MDR3 DEFICIENCY; Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Progressive familial intrahepatic cholestasis type 3 (1186865008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ABCB4 - ID: 5244 - NCBI Gene" href="/gene/5244" class="medgenPMinfo">ABCB4</a> (7q21.12)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/8647">ABCB11</a>, <a target="_blank" href="/gene/5205">ATP8B1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011214" target="_blank">MONDO:0011214</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602347" target="_blank">602347</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=79305">ORPHA79305</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">Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.<br /><br />The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.<br /><br />In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.<br /><br />There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.<br /><br />Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).<br /><br />Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</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_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_3042"><div><strong>Intrahepatic cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3042</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.">C0008372</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 the small bile ducts within the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3042">Feature record</a> | <a href="/medgen?term=%22Intrahepatic%20cholestasis%22%5BClinical%20Features%5D%20OR%203042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%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_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_412612"><div><strong>Portal inflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412612</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.">C2748698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infiltration of portal fields by inflammatory cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412612">Feature record</a> | <a href="/medgen?term=%22Portal%20inflammation%22%5BClinical%20Features%5D%20OR%20412612%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811453"><div><strong>Malabsorption</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811453</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.">C3714745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to absorb one or more nutrients from the intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811453">Feature record</a> | <a href="/medgen?term=%22Malabsorption%22%5BClinical%20Features%5D%20OR%20811453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893107"><div><strong>Portal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893107</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.">C3805083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fibroblast proliferation and fiber expansion from the portal areas to the lobule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893107">Feature record</a> | <a href="/medgen?term=%22Portal%20fibrosis%22%5BClinical%20Features%5D%20OR%20893107%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%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_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase 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_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 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_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_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_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</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_3042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrahepatic cholestasis</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_811453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malabsorption</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal inflammation</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_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</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_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865643[DISCUI]&test_type=Clinical" ref="ncbi_uid=356333">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356333" target="_blank" href="/omim/171060">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK584020/" ref="ncbi_uid=356333">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356333" ref="ncbi_uid=356333">V</a></span></span><span class="TLline">Progressive familial intrahepatic cholestasis type 3</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551898[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645830">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645830" target="_blank" href="/omim/211600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1297%20OR%20NBK584020)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=1645830">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1645830" ref="ncbi_uid=1645830">V</a></span></span><span class="TLline"><a href="/medgen/1645830" ref="tree=GTR&ncbi_uid=1645830&link_uid=1645830" title="View MedGen record for 'Progressive familial intrahepatic cholestasis type 1'">Progressive familial intrahepatic cholestasis type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3489789[DISCUI]&test_type=Clinical" ref="ncbi_uid=483742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483742" target="_blank" href="/omim/601847">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1297%20OR%20NBK584020)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=483742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483742" ref="ncbi_uid=483742">V</a></span></span><span class="TLline"><a href="/medgen/483742" ref="tree=GTR&ncbi_uid=483742&link_uid=483742" title="View MedGen record for 'Progressive familial intrahepatic cholestasis type 2'">Progressive familial intrahepatic cholestasis type 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/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">Progressive familial intrahepatic cholestasis type 3</span><ul><li><span class="TLline"><a href="/medgen/1645830" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis type 1">Progressive familial intrahepatic cholestasis type 1</a></span></li><li><span class="TLline"><a href="/medgen/483742" ref="tree=MeSH" title="MedGen record for Progressive familial intrahepatic cholestasis type 2">Progressive familial intrahepatic cholestasis type 2</a></span></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11331&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Progressive familial intrahepatic cholestasis type 3</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39521930">Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Liu Q,
|
||
Sun X,
|
||
Wei W,
|
||
Ding L,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Nov 9;14(1):27381.
|
||
doi: 10.1038/s41598-024-79123-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39521930" target="_blank">39521930</a><a href="/pmc/articles/PMC11550383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31160058">Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicastro E,
|
||
Di Giorgio A,
|
||
Marchetti D,
|
||
Barboni C,
|
||
Cereda A,
|
||
Iascone M,
|
||
D'Antiga L</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2019 Aug;211:54-62.e4.
|
||
Epub 2019 May 31
|
||
doi: 10.1016/j.jpeds.2019.04.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31160058" target="_blank">31160058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24002166">Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzales E,
|
||
Spraul A,
|
||
Jacquemin E</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4)
|
||
Epub 2013 Sep 4
|
||
doi: 10.1038/ejhg.2013.188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24002166" target="_blank">24002166</a><a href="/pmc/articles/PMC3953914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20familial%20intrahepatic%20cholestasis%20type%203%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</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/38610052">Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
|
||
Ling X,
|
||
Yan J,
|
||
Feng D,
|
||
Dong Y,
|
||
Xu Z,
|
||
Wang F,
|
||
Zhu S,
|
||
Gao Y,
|
||
Cao Z,
|
||
Zhang M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Apr 12;19(1):157.
|
||
doi: 10.1186/s13023-024-03179-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38610052" target="_blank">38610052</a><a href="/pmc/articles/PMC11010299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38488493">Molecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blázquez-García I,
|
||
Guerrero L,
|
||
Cacho-Navas C,
|
||
Djouder N,
|
||
Millan J,
|
||
Paradela A,
|
||
Carmona-Rodríguez L,
|
||
Corrales FJ</span><br />
|
||
<span class="medgenPMjournal">J Proteome Res</span>
|
||
2024 Apr 5;23(4):1433-1442.
|
||
Epub 2024 Mar 15
|
||
doi: 10.1021/acs.jproteome.3c00900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38488493" target="_blank">38488493</a><a href="/pmc/articles/PMC11002922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38284625">Molecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrero L,
|
||
Carmona-Rodríguez L,
|
||
Santos FM,
|
||
Ciordia S,
|
||
Stark L,
|
||
Hierro L,
|
||
Pérez-Montero P,
|
||
Vicent D,
|
||
Corrales FJ</span><br />
|
||
<span class="medgenPMjournal">Biofactors</span>
|
||
2024 Jul-Aug;50(4):794-809.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1002/biof.2041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38284625" target="_blank">38284625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37488596">A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiao F,
|
||
Ren F,
|
||
Lu W,
|
||
Yang H,
|
||
Mo G,
|
||
Wang S,
|
||
Liu L,
|
||
Xu X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Jul 25;16(1):171.
|
||
doi: 10.1186/s12920-023-01602-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37488596" target="_blank">37488596</a><a href="/pmc/articles/PMC10367406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33757843">Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipiński P,
|
||
Ciara E,
|
||
Jurkiewicz D,
|
||
Płoski R,
|
||
Wawrzynowicz-Syczewska M,
|
||
Pawłowska J,
|
||
Jankowska I</span><br />
|
||
<span class="medgenPMjournal">Ann Hepatol</span>
|
||
2021 Nov-Dec;25:100342.
|
||
Epub 2021 Mar 20
|
||
doi: 10.1016/j.aohep.2021.100342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33757843" target="_blank">33757843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38610052">Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
|
||
Ling X,
|
||
Yan J,
|
||
Feng D,
|
||
Dong Y,
|
||
Xu Z,
|
||
Wang F,
|
||
Zhu S,
|
||
Gao Y,
|
||
Cao Z,
|
||
Zhang M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Apr 12;19(1):157.
|
||
doi: 10.1186/s13023-024-03179-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38610052" target="_blank">38610052</a><a href="/pmc/articles/PMC11010299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38385789">Serum Transaminase Monitoring and Successful Treatment of ADHD With Dextroamphetamine in a Patient With Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russel G,
|
||
DeLucia B</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychopharmacol</span>
|
||
2024 Mar-Apr 01;44(2):180-182.
|
||
doi: 10.1097/JCP.0000000000001806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38385789" target="_blank">38385789</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/24002166">Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzales E,
|
||
Spraul A,
|
||
Jacquemin E</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4)
|
||
Epub 2013 Sep 4
|
||
doi: 10.1038/ejhg.2013.188.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24002166" target="_blank">24002166</a><a href="/pmc/articles/PMC3953914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22669981">Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramraj R,
|
||
Finegold MJ,
|
||
Karpen SJ</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
2012 Jul;51(7):689-91.
|
||
Epub 2012 Jun 4
|
||
doi: 10.1177/0009922812451076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22669981" target="_blank">22669981</a><a href="/pmc/articles/PMC3678905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/31759867">ABCB4 disease: Many faces of one gene deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sticova E,
|
||
Jirsa M</span><br />
|
||
<span class="medgenPMjournal">Ann Hepatol</span>
|
||
2020 Mar-Apr;19(2):126-133.
|
||
Epub 2019 Oct 31
|
||
doi: 10.1016/j.aohep.2019.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31759867" target="_blank">31759867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31836711">Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber ND,
|
||
Odriozola L,
|
||
Martínez-García J,
|
||
Ferrer V,
|
||
Douar A,
|
||
Bénichou B,
|
||
González-Aseguinolaza G,
|
||
Smerdou C</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Dec 13;10(1):5694.
|
||
doi: 10.1038/s41467-019-13614-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31836711" target="_blank">31836711</a><a href="/pmc/articles/PMC6910969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568708">Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Masi R,
|
||
Orlando S,
|
||
De Donno A</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2019 Nov;6(11):2347-2350.
|
||
Epub 2019 Sep 30
|
||
doi: 10.1002/acn3.50883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568708" target="_blank">31568708</a><a href="/pmc/articles/PMC6856765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30416319">Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan YW,
|
||
Ji HL,
|
||
Lu ZH,
|
||
Ge GH,
|
||
Sun L,
|
||
Zhou XB,
|
||
Sheng JH,
|
||
Gong YH</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2018 Nov 7;24(41):4716-4720.
|
||
doi: 10.3748/wjg.v24.i41.4716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30416319" target="_blank">30416319</a><a href="/pmc/articles/PMC6224472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38284625">Molecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerrero L,
|
||
Carmona-Rodríguez L,
|
||
Santos FM,
|
||
Ciordia S,
|
||
Stark L,
|
||
Hierro L,
|
||
Pérez-Montero P,
|
||
Vicent D,
|
||
Corrales FJ</span><br />
|
||
<span class="medgenPMjournal">Biofactors</span>
|
||
2024 Jul-Aug;50(4):794-809.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1002/biof.2041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38284625" target="_blank">38284625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37488596">A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiao F,
|
||
Ren F,
|
||
Lu W,
|
||
Yang H,
|
||
Mo G,
|
||
Wang S,
|
||
Liu L,
|
||
Xu X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Jul 25;16(1):171.
|
||
doi: 10.1186/s12920-023-01602-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37488596" target="_blank">37488596</a><a href="/pmc/articles/PMC10367406" 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/33757843">Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipiński P,
|
||
Ciara E,
|
||
Jurkiewicz D,
|
||
Płoski R,
|
||
Wawrzynowicz-Syczewska M,
|
||
Pawłowska J,
|
||
Jankowska I</span><br />
|
||
<span class="medgenPMjournal">Ann Hepatol</span>
|
||
2021 Nov-Dec;25:100342.
|
||
Epub 2021 Mar 20
|
||
doi: 10.1016/j.aohep.2021.100342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33757843" target="_blank">33757843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21119540">Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Vajro P,
|
||
Degiorgio D,
|
||
Coviello DA,
|
||
Costantino L,
|
||
Tornillo L,
|
||
Motta V,
|
||
Consonni D,
|
||
Maggiore G;
|
||
SIGENP Study Group for Genetic Cholestasis</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2011 Jan;52(1):73-83.
|
||
doi: 10.1097/MPG.0b013e3181f50363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21119540" target="_blank">21119540</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39521930">Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Liu Q,
|
||
Sun X,
|
||
Wei W,
|
||
Ding L,
|
||
Zhao X</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Nov 9;14(1):27381.
|
||
doi: 10.1038/s41598-024-79123-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39521930" target="_blank">39521930</a><a href="/pmc/articles/PMC11550383" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38829428">Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu N,
|
||
Gong L,
|
||
Mi X,
|
||
Yang W,
|
||
Tang D</span><br />
|
||
<span class="medgenPMjournal">Radiologie (Heidelb)</span>
|
||
2024 Nov;64(Suppl 1):102-108.
|
||
Epub 2024 Jun 3
|
||
doi: 10.1007/s00117-024-01324-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38829428" target="_blank">38829428</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/32626542">Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem K,
|
||
Cui Q,
|
||
Zaib T,
|
||
Zhu S,
|
||
Qin Q,
|
||
Wang Y,
|
||
Dam J,
|
||
Ji W,
|
||
Liu P,
|
||
Jia X,
|
||
Wu J,
|
||
Bai J,
|
||
Fu S,
|
||
Sun W</span><br />
|
||
<span class="medgenPMjournal">Dis Markers</span>
|
||
2020;2020:6292818.
|
||
Epub 2020 Jun 15
|
||
doi: 10.1155/2020/6292818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32626542" target="_blank">32626542</a><a href="/pmc/articles/PMC7315263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21119540">Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colombo C,
|
||
Vajro P,
|
||
Degiorgio D,
|
||
Coviello DA,
|
||
Costantino L,
|
||
Tornillo L,
|
||
Motta V,
|
||
Consonni D,
|
||
Maggiore G;
|
||
SIGENP Study Group for Genetic Cholestasis</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Gastroenterol Nutr</span>
|
||
2011 Jan;52(1):73-83.
|
||
doi: 10.1097/MPG.0b013e3181f50363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21119540" target="_blank">21119540</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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 (19)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865643%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865643%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865643%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C1865643%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1865643%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602347" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79305" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Progressive%20familial%20intrahepatic%20cholestasis%20type%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20familial%20intrahepatic%20cholestasis%20type%203%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=171060" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5244[geneid]" target="_blank">View ABCB4 variations in ClinVar</a></li><li><a href="/nuccore/169234676" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=602347" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/cholestasis_progressive_familial_intrahepatic_3_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Progressive%20familial%20intrahepatic%20cholestasis%20type%203" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1289/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/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=Progressive%20familial%20intrahepatic%20cholestasis%20type%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Progressive%20familial%20intrahepatic%20cholestasis%20type%203%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">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=356333" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=356333" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1865643[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1865643[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=356333" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=356333" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=356333" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
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