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<!--
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UID=3042
|
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ConceptID=C0008372
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intrahepatic cholestasis</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Bile Duct Obstruction, Intrahepatic; Biliary Stases, Intrahepatic; Biliary Stasis, Intrahepatic; Cholestases, Intrahepatic; Cholestasis, Intrahepatic; Intrahepatic Biliary Stases; Intrahepatic Biliary Stasis; Intrahepatic Cholestases; Intrahepatic Cholestasis</td></tr>
|
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<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Intrahepatic cholestasis (4637005)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001406">HP:0001406</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019072" target="_blank">MONDO:0019072</a></td></tr>
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</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>
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||
<div class="portlet_content ln">Impairment of bile flow due to obstruction in the small bile ducts within the liver. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Intrahepatic cholestasis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/867396" ref="tree=MeSH" title="MedGen record for Abnormality of the abdominal organs">Abnormality of the abdominal organs</a></span><ul><li><span class="TLline"><a href="/medgen/893061" ref="tree=MeSH" title="MedGen record for Abnormality of the liver">Abnormality of the liver</a></span><ul><li><span class="TLline"><a href="/medgen/1637830" ref="tree=MeSH" title="MedGen record for Abnormal liver physiology">Abnormal liver physiology</a></span><ul><li><span class="matched_ds">Intrahepatic cholestasis</span><ul><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44182" ref="tree=MeSH" title="MedGen record for Biliary cirrhosis">Biliary cirrhosis</a></span><ul><li><span class="TLline"><a href="/medgen/3035" ref="tree=MeSH" title="MedGen record for Primary biliary cholangitis">Primary biliary cholangitis</a></span></li><li><span class="TLline"><a href="/medgen/68653" ref="tree=MeSH" title="MedGen record for Secondary biliary cirrhosis">Secondary biliary cirrhosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870571" ref="tree=MeSH" title="MedGen record for Intrahepatic cholestasis with episodic jaundice">Intrahepatic cholestasis with episodic jaundice</a></span></li><li><span class="TLline"><a href="/medgen/443480" ref="tree=MeSH" title="MedGen record for Recurrent Intrahepatic Cholestasis">Recurrent Intrahepatic Cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/57703" ref="tree=MeSH" title="MedGen record for Benign recurrent intrahepatic cholestasis">Benign recurrent intrahepatic cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/1637492" ref="tree=MeSH" title="MedGen record for Benign recurrent intrahepatic cholestasis type 1">Benign recurrent intrahepatic cholestasis type 1</a></span></li><li><span class="TLline"><a href="/medgen/435857" ref="tree=MeSH" title="MedGen record for Benign recurrent intrahepatic cholestasis type 2">Benign recurrent intrahepatic cholestasis type 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_59798"><div><strong>Johanson-Blizzard syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59798</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.">C0175692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder characterized by poor growth, impaired intellectual development, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/59798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87458"><div><strong>Fumarase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87458</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.">C0342770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335883"><div><strong>Congenital bile acid synthesis defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</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.">C1843116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375885"><div><strong>Lathosterolosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375885</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.">C1846421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lathosterolosis is characterized by global developmental delays, intellectual disability, microcephaly, characteristic facial features (bitemporal narrowing, sloping forehead, epicanthal folds, ptosis, downslanting palpebral fissures, anteverted nares, broad nasal tip, long philtrum, high-arched palate, and micrognathia), cataracts, digit anomalies (postaxial polydactyly, toe syndactyly), and liver disease. The severity of liver disease can range from asymptomatic elevation of liver enzymes to cirrhosis and liver failure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375885">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340091"><div><strong>Neonatal intrahepatic cholestasis due to citrin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340091</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.">C1853942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383840"><div><strong>Congenital bile acid synthesis defect 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383840</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.">C1856127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.\n\nThe signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.\n\nIf left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383840">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388039"><div><strong>Congenital bile acid synthesis defect 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388039</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.">C1858328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356333"><div><strong>Progressive familial intrahepatic cholestasis type 3</strong><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.">C1865643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356333">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435857"><div><strong>Benign recurrent intrahepatic cholestasis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435857</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.">C2608083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/435857">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414536"><div><strong>PGM1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414536</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.">C2752015</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414536">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_418976"><div><strong>Cholestasis, progressive familial intrahepatic, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418976</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/418976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462497"><div><strong>Congenital bile acid synthesis defect 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462497</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.">C3151147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483742"><div><strong>Progressive familial intrahepatic cholestasis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483742</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3489789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483742">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762759"><div><strong>Cholestasis, intrahepatic, of pregnancy, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762759</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.">C3549845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy See also ICP3 (614972), caused by mutation in the ABCB4 gene (171060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762759">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766918"><div><strong>Peroxisome biogenesis disorder 13A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766918</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.">C3554004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766918">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767155"><div><strong>Cholestasis, intrahepatic, of pregnancy, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767155</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.">C3554241</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by Ziol et al., 2008). For a discussion of genetic heterogeneity of ICP, see ICP1 (147480).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767155">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934687"><div><strong>Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934687</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.">C4310720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934687">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794175"><div><strong>Cholestasis, progressive familial intrahepatic, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794175</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.">C5561965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea (Gao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794175">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794262"><div><strong>Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794262</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.">C5562052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC) is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis manifest as jaundice and elevated liver enzymes. The liver disease resolves, but affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur (summary by Schneeberger et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794262">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809292"><div><strong>Cholestasis, progressive familial intrahepatic, 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809292</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.">C5676973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-9 (PFIC9) is an autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Affected individuals have hepatosplenomegaly and may have portal hypertension or upper gastrointestinal bleeding. Liver biopsy shows fibrosis, cirrhosis, bile duct proliferation, and abnormal bile duct morphology. The disorder is thought to result from ciliary defects in cholangiocytes, consistent with a ciliopathy that appears to be restricted to the liver. Treatment with ursodeoxycholic acid (UDCA) or liver transplant is effective (Luan et al., 2021). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809292">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823968"><div><strong>Liver disease, severe congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823968</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.">C5774195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823968">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Benign recurrent intrahepatic cholestasis type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, intrahepatic, of pregnancy, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, intrahepatic, of pregnancy, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (23)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fumarase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Johanson-Blizzard syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lathosterolosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Liver disease, severe congenital</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal intrahepatic cholestasis due to citrin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 13A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PGM1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483742" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial intrahepatic cholestasis type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive familial intrahepatic cholestasis type 3</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37651067">Treatment of Cholestasis in Infants and Young Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heinz N,
|
||
Vittorio J</span><br />
|
||
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
|
||
2023 Nov;25(11):344-354.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1007/s11894-023-00891-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37651067" target="_blank">37651067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32861449">Recent developments in diagnostics and treatment of neonatal cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feldman AG,
|
||
Sokol RJ</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2020 Aug;29(4):150945.
|
||
Epub 2020 Jul 23
|
||
doi: 10.1016/j.sempedsurg.2020.150945.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32861449" target="_blank">32861449</a><a href="/pmc/articles/PMC7459146" target="_blank" class="PubMedFree">Free PMC Article</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=(%22intrahepatic%20cholestasis%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 (165)</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/36075066">Recognizing, Diagnosing, and Managing Pregnancy Dermatoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Himeles JR,
|
||
Pomeranz MK</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2022 Oct 1;140(4):679-695.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1097/AOG.0000000000004938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36075066" target="_blank">36075066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35276220">Pregnancy-Associated Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terrault NA,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Jul;163(1):97-117.e1.
|
||
Epub 2022 Mar 8
|
||
doi: 10.1053/j.gastro.2022.01.060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35276220" target="_blank">35276220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34195157">Molecular Pathogenesis of Intrahepatic Cholestasis of Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao J,
|
||
Li Z,
|
||
Song Y,
|
||
Sun Y,
|
||
Shi H,
|
||
Chen D,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">Can J Gastroenterol Hepatol</span>
|
||
2021;2021:6679322.
|
||
Epub 2021 May 30
|
||
doi: 10.1155/2021/6679322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34195157" target="_blank">34195157</a><a href="/pmc/articles/PMC8181114" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31764000">Intrahepatic Cholestasis of Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith DD,
|
||
Rood KM</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2020 Mar;63(1):134-151.
|
||
doi: 10.1097/GRF.0000000000000495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31764000" target="_blank">31764000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24901263">Intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson C,
|
||
Geenes V</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2014 Jul;124(1):120-133.
|
||
doi: 10.1097/AOG.0000000000000346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24901263" target="_blank">24901263</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intrahepatic%20cholestasis%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 (1553)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36511865">Intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobson S,
|
||
Gandhi S,
|
||
Sobel M</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2022 Dec 12;194(48):E1650.
|
||
doi: 10.1503/cmaj.220334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36511865" target="_blank">36511865</a><a href="/pmc/articles/PMC9828981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35942656">Intrahepatic cholestasis of pregnancy: Green-top Guideline No. 43 June 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Girling J,
|
||
Knight CL,
|
||
Chappell L;
|
||
Royal College of Obstetricians and Gynaecologists</span><br />
|
||
<span class="medgenPMjournal">BJOG</span>
|
||
2022 Dec;129(13):e95-e114.
|
||
Epub 2022 Aug 9
|
||
doi: 10.1111/1471-0528.17206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35942656" target="_blank">35942656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35276220">Pregnancy-Associated Liver Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terrault NA,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Jul;163(1):97-117.e1.
|
||
Epub 2022 Mar 8
|
||
doi: 10.1053/j.gastro.2022.01.060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35276220" target="_blank">35276220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31764000">Intrahepatic Cholestasis of Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith DD,
|
||
Rood KM</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2020 Mar;63(1):134-151.
|
||
doi: 10.1097/GRF.0000000000000495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31764000" target="_blank">31764000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24901263">Intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williamson C,
|
||
Geenes V</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2014 Jul;124(1):120-133.
|
||
doi: 10.1097/AOG.0000000000000346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24901263" target="_blank">24901263</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intrahepatic%20cholestasis%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 (1767)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34813049">Maralixibat: First Approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shirley M</span><br />
|
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<span class="medgenPMjournal">Drugs</span>
|
||
2022 Jan;82(1):71-76.
|
||
doi: 10.1007/s40265-021-01649-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34813049" target="_blank">34813049</a><a href="/pmc/articles/PMC8748361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33915090">Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia C,
|
||
Sajous J,
|
||
Seed PT,
|
||
Patel K,
|
||
Williamson NJ,
|
||
Attilakos G,
|
||
Azzaroli F,
|
||
Bacq Y,
|
||
Batsry L,
|
||
Broom K,
|
||
Brun-Furrer R,
|
||
Bull L,
|
||
Chambers J,
|
||
Cui Y,
|
||
Ding M,
|
||
Dixon PH,
|
||
Estiú MC,
|
||
Gardiner FW,
|
||
Geenes V,
|
||
Grymowicz M,
|
||
Günaydin B,
|
||
Hague WM,
|
||
Haslinger C,
|
||
Hu Y,
|
||
Indraccolo U,
|
||
Juusela A,
|
||
Kane SC,
|
||
Kebapcilar A,
|
||
Kebapcilar L,
|
||
Kohari K,
|
||
Kondrackienė J,
|
||
Koster MPH,
|
||
Lee RH,
|
||
Liu X,
|
||
Locatelli A,
|
||
Macias RIR,
|
||
Madazli R,
|
||
Majewska A,
|
||
Maksym K,
|
||
Marathe JA,
|
||
Morton A,
|
||
Oudijk MA,
|
||
Öztekin D,
|
||
Peek MJ,
|
||
Shennan AH,
|
||
Tribe RM,
|
||
Tripodi V,
|
||
Türk Özterlemez N,
|
||
Vasavan T,
|
||
Wong LFA,
|
||
Yinon Y,
|
||
Zhang Q,
|
||
Zloto K,
|
||
Marschall HU,
|
||
Thornton J,
|
||
Chappell LC,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2021 Jul;6(7):547-558.
|
||
Epub 2021 Apr 27
|
||
doi: 10.1016/S2468-1253(21)00074-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915090" target="_blank">33915090</a><a href="/pmc/articles/PMC8192305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32716060">Pharmacological interventions for treating intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker KF,
|
||
Chappell LC,
|
||
Hague WM,
|
||
Middleton P,
|
||
Thornton JG</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jul 27;7(7):CD000493.
|
||
doi: 10.1002/14651858.CD000493.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32716060" target="_blank">32716060</a><a href="/pmc/articles/PMC7389072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30773280">Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia C,
|
||
Seed PT,
|
||
Sklavounos A,
|
||
Geenes V,
|
||
Di Ilio C,
|
||
Chambers J,
|
||
Kohari K,
|
||
Bacq Y,
|
||
Bozkurt N,
|
||
Brun-Furrer R,
|
||
Bull L,
|
||
Estiú MC,
|
||
Grymowicz M,
|
||
Gunaydin B,
|
||
Hague WM,
|
||
Haslinger C,
|
||
Hu Y,
|
||
Kawakita T,
|
||
Kebapcilar AG,
|
||
Kebapcilar L,
|
||
Kondrackienė J,
|
||
Koster MPH,
|
||
Kowalska-Kańka A,
|
||
Kupčinskas L,
|
||
Lee RH,
|
||
Locatelli A,
|
||
Macias RIR,
|
||
Marschall HU,
|
||
Oudijk MA,
|
||
Raz Y,
|
||
Rimon E,
|
||
Shan D,
|
||
Shao Y,
|
||
Tribe R,
|
||
Tripodi V,
|
||
Yayla Abide C,
|
||
Yenidede I,
|
||
Thornton JG,
|
||
Chappell LC,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Mar 2;393(10174):899-909.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1016/S0140-6736(18)31877-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30773280" target="_blank">30773280</a><a href="/pmc/articles/PMC6396441" 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,
|
||
Todorova L,
|
||
Kamath BM,
|
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Houwen RHJ</span><br />
|
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<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=%22Intrahepatic%20cholestasis%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 (1193)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31346820">Liver Disease in Pregnancy and Transplant.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Alghamdi S,
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Fleckenstein J</span><br />
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<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
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2019 Jul 25;21(9):43.
|
||
doi: 10.1007/s11894-019-0711-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31346820" target="_blank">31346820</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,
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Verma SK</span><br />
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<span class="medgenPMjournal">World J Gastroenterol</span>
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2018 Sep 21;24(35):3980-3999.
|
||
doi: 10.3748/wjg.v24.i35.3980.
|
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<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 class="nl"><a target="_blank" href="/pubmed/27324237">Immunology of hepatic diseases during pregnancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bremer L,
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Schramm C,
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Tiegs G</span><br />
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<span class="medgenPMjournal">Semin Immunopathol</span>
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2016 Nov;38(6):669-685.
|
||
Epub 2016 Jun 20
|
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doi: 10.1007/s00281-016-0573-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27324237" target="_blank">27324237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9742487">Cholestatic liver disease: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dickson ER</span><br />
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<span class="medgenPMjournal">Liver Transpl Surg</span>
|
||
1998 Sep;4(5 Suppl 1):S1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9742487" target="_blank">9742487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intrahepatic%20cholestasis%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 (957)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34082807">Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones-Hughes T,
|
||
Campbell J,
|
||
Crathorne L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jun 3;16(1):255.
|
||
doi: 10.1186/s13023-021-01884-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34082807" target="_blank">34082807</a><a href="/pmc/articles/PMC8173883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32716060">Pharmacological interventions for treating intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker KF,
|
||
Chappell LC,
|
||
Hague WM,
|
||
Middleton P,
|
||
Thornton JG</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jul 27;7(7):CD000493.
|
||
doi: 10.1002/14651858.CD000493.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32716060" target="_blank">32716060</a><a href="/pmc/articles/PMC7389072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32087350">Genotype correlates with the natural history of severe bile salt export pump deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wessel DBE,
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Thompson RJ,
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Gonzales E,
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Jankowska I,
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Sokal E,
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Grammatikopoulos T,
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Kadaristiana A,
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Jacquemin E,
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Spraul A,
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Lipiński P,
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Czubkowski P,
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Rock N,
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Shagrani M,
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Broering D,
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Algoufi T,
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Mazhar N,
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Nicastro E,
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Kelly DA,
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Nebbia G,
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Arnell H,
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Björn Fischler,
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Hulscher JBF,
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Serranti D,
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Arikan C,
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Polat E,
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Debray D,
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Lacaille F,
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Goncalves C,
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Hierro L,
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Muñoz Bartolo G,
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Mozer-Glassberg Y,
|
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Azaz A,
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Brecelj J,
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Dezsőfi A,
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Calvo PL,
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Grabhorn E,
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Sturm E,
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van der Woerd WJ,
|
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Kamath BM,
|
||
Wang JS,
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Li L,
|
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Durmaz Ö,
|
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Onal Z,
|
||
Bunt TMG,
|
||
Hansen BE,
|
||
Verkade HJ;
|
||
NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2020 Jul;73(1):84-93.
|
||
Epub 2020 Feb 20
|
||
doi: 10.1016/j.jhep.2020.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32087350" target="_blank">32087350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31346820">Liver Disease in Pregnancy and Transplant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alghamdi S,
|
||
Fleckenstein J</span><br />
|
||
<span class="medgenPMjournal">Curr Gastroenterol Rep</span>
|
||
2019 Jul 25;21(9):43.
|
||
doi: 10.1007/s11894-019-0711-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31346820" target="_blank">31346820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29317337">Heart and bile acids - Clinical consequences of altered bile acid metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasavan T,
|
||
Ferraro E,
|
||
Ibrahim E,
|
||
Dixon P,
|
||
Gorelik J,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2018 Apr;1864(4 Pt B):1345-1355.
|
||
Epub 2018 Jan 6
|
||
doi: 10.1016/j.bbadis.2017.12.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29317337" target="_blank">29317337</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intrahepatic%20cholestasis%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 (867)</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/34082807">Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones-Hughes T,
|
||
Campbell J,
|
||
Crathorne L</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jun 3;16(1):255.
|
||
doi: 10.1186/s13023-021-01884-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34082807" target="_blank">34082807</a><a href="/pmc/articles/PMC8173883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33915090">Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia C,
|
||
Sajous J,
|
||
Seed PT,
|
||
Patel K,
|
||
Williamson NJ,
|
||
Attilakos G,
|
||
Azzaroli F,
|
||
Bacq Y,
|
||
Batsry L,
|
||
Broom K,
|
||
Brun-Furrer R,
|
||
Bull L,
|
||
Chambers J,
|
||
Cui Y,
|
||
Ding M,
|
||
Dixon PH,
|
||
Estiú MC,
|
||
Gardiner FW,
|
||
Geenes V,
|
||
Grymowicz M,
|
||
Günaydin B,
|
||
Hague WM,
|
||
Haslinger C,
|
||
Hu Y,
|
||
Indraccolo U,
|
||
Juusela A,
|
||
Kane SC,
|
||
Kebapcilar A,
|
||
Kebapcilar L,
|
||
Kohari K,
|
||
Kondrackienė J,
|
||
Koster MPH,
|
||
Lee RH,
|
||
Liu X,
|
||
Locatelli A,
|
||
Macias RIR,
|
||
Madazli R,
|
||
Majewska A,
|
||
Maksym K,
|
||
Marathe JA,
|
||
Morton A,
|
||
Oudijk MA,
|
||
Öztekin D,
|
||
Peek MJ,
|
||
Shennan AH,
|
||
Tribe RM,
|
||
Tripodi V,
|
||
Türk Özterlemez N,
|
||
Vasavan T,
|
||
Wong LFA,
|
||
Yinon Y,
|
||
Zhang Q,
|
||
Zloto K,
|
||
Marschall HU,
|
||
Thornton J,
|
||
Chappell LC,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Lancet Gastroenterol Hepatol</span>
|
||
2021 Jul;6(7):547-558.
|
||
Epub 2021 Apr 27
|
||
doi: 10.1016/S2468-1253(21)00074-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33915090" target="_blank">33915090</a><a href="/pmc/articles/PMC8192305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32716060">Pharmacological interventions for treating intrahepatic cholestasis of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker KF,
|
||
Chappell LC,
|
||
Hague WM,
|
||
Middleton P,
|
||
Thornton JG</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jul 27;7(7):CD000493.
|
||
doi: 10.1002/14651858.CD000493.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32716060" target="_blank">32716060</a><a href="/pmc/articles/PMC7389072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30773280">Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ovadia C,
|
||
Seed PT,
|
||
Sklavounos A,
|
||
Geenes V,
|
||
Di Ilio C,
|
||
Chambers J,
|
||
Kohari K,
|
||
Bacq Y,
|
||
Bozkurt N,
|
||
Brun-Furrer R,
|
||
Bull L,
|
||
Estiú MC,
|
||
Grymowicz M,
|
||
Gunaydin B,
|
||
Hague WM,
|
||
Haslinger C,
|
||
Hu Y,
|
||
Kawakita T,
|
||
Kebapcilar AG,
|
||
Kebapcilar L,
|
||
Kondrackienė J,
|
||
Koster MPH,
|
||
Kowalska-Kańka A,
|
||
Kupčinskas L,
|
||
Lee RH,
|
||
Locatelli A,
|
||
Macias RIR,
|
||
Marschall HU,
|
||
Oudijk MA,
|
||
Raz Y,
|
||
Rimon E,
|
||
Shan D,
|
||
Shao Y,
|
||
Tribe R,
|
||
Tripodi V,
|
||
Yayla Abide C,
|
||
Yenidede I,
|
||
Thornton JG,
|
||
Chappell LC,
|
||
Williamson C</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2019 Mar 2;393(10174):899-909.
|
||
Epub 2019 Feb 14
|
||
doi: 10.1016/S0140-6736(18)31877-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30773280" target="_blank">30773280</a><a href="/pmc/articles/PMC6396441" 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,
|
||
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=%22Intrahepatic%20cholestasis%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 (38)</a></div></div>
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