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<!--
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||
UID=893061
|
||
ConceptID=C4021780
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the liver</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893061</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.">C4021780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal liver; disease of liver; disease or disorder of liver; disorder of liver; hepatic disease; hepatic disorder; Liver abnormality; liver and intrahepatic bile duct disorder; Liver disease; liver disease; liver disease or disorder; liver disorder</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001392">HP:0001392</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005154" target="_blank">MONDO:0005154</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>
|
||
<div class="portlet_content ln">An abnormality of 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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021780[DISCUI]&test_type=Clinical" ref="ncbi_uid=893061">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=893061" ref="ncbi_uid=893061">V</a></span></span><span class="TLline">Abnormality of the liver</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="matched_ds">Abnormality of the liver</span><ul><li><span class="TLline"><a href="/medgen/1616314" ref="tree=MeSH" title="MedGen record for Abnormal liver morphology">Abnormal liver morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841588" ref="tree=MeSH" title="MedGen record for Abnormal liver metabolite concentration">Abnormal liver metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/868029" ref="tree=MeSH" title="MedGen record for Abnormal hepatic iron concentration">Abnormal hepatic iron concentration</a></span></li><li><span class="TLline"><a href="/medgen/910570" ref="tree=MeSH" title="MedGen record for Copper accumulation in liver">Copper accumulation in liver</a></span></li><li><span class="TLline"><a href="/medgen/892603" ref="tree=MeSH" title="MedGen record for Decreased carnitine level in liver">Decreased carnitine level in liver</a></span></li><li><span class="TLline"><a href="/medgen/1864099" ref="tree=MeSH" title="MedGen record for Decreased liver bile salt export pump expression">Decreased liver bile salt export pump expression</a></span></li><li><span class="TLline"><a href="/medgen/1390544" ref="tree=MeSH" title="MedGen record for Storage in hepatocytes">Storage in hepatocytes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868213" ref="tree=MeSH" title="MedGen record for Abnormal liver parenchyma morphology">Abnormal liver parenchyma morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1841787" ref="tree=MeSH" title="MedGen record for Abnormal hepatocyte morphology">Abnormal hepatocyte morphology</a></span></li><li><span class="TLline"><a href="/medgen/451045" ref="tree=MeSH" title="MedGen record for Abnormal liver lobulation">Abnormal liver lobulation</a></span></li><li><span class="TLline"><a href="/medgen/1053354" ref="tree=MeSH" title="MedGen record for Hepatic cystine accumulation">Hepatic cystine accumulation</a></span></li><li><span class="TLline"><a href="/medgen/1864100" ref="tree=MeSH" title="MedGen record for Hepatic lipid-laden macrophage infiltration">Hepatic lipid-laden macrophage infiltration</a></span></li><li><span class="TLline"><a href="/medgen/1770941" ref="tree=MeSH" title="MedGen record for Hepatic lobular inflammation">Hepatic lobular inflammation</a></span></li><li><span class="TLline"><a href="/medgen/1842136" ref="tree=MeSH" title="MedGen record for Hepatic sinusoidal dilatation">Hepatic sinusoidal dilatation</a></span></li><li><span class="TLline"><a href="/medgen/1705090" ref="tree=MeSH" title="MedGen record for Periportal emperipolesis">Periportal emperipolesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1374725" ref="tree=MeSH" title="MedGen record for Abnormal liver sonography">Abnormal liver sonography</a></span><ul><li><span class="TLline"><a href="/medgen/1378149" ref="tree=MeSH" title="MedGen record for Abnormal hepatic echogenicity">Abnormal hepatic echogenicity</a></span></li><li><span class="TLline"><a href="/medgen/1371893" ref="tree=MeSH" title="MedGen record for Coarsened hepatic echotexture">Coarsened hepatic echotexture</a></span></li><li><span class="TLline"><a href="/medgen/1372070" ref="tree=MeSH" title="MedGen record for Starry sky appearance on hepatic sonography">Starry sky appearance on hepatic sonography</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870546" ref="tree=MeSH" title="MedGen record for Abnormality of the hepatic vasculature">Abnormality of the hepatic vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/1853112" ref="tree=MeSH" title="MedGen record for Abnormal hepatic artery morphology">Abnormal hepatic artery morphology</a></span></li><li><span class="TLline"><a href="/medgen/1670961" ref="tree=MeSH" title="MedGen record for Abnormal portal venous system morphology">Abnormal portal venous system morphology</a></span></li><li><span class="TLline"><a href="/medgen/1703393" ref="tree=MeSH" title="MedGen record for Anomalous hepatic venous drainage into the left atrium">Anomalous hepatic venous drainage into the left atrium</a></span></li><li><span class="TLline"><a href="/medgen/350099" ref="tree=MeSH" title="MedGen record for Hepatic vascular malformations">Hepatic vascular malformations</a></span></li><li><span class="TLline"><a href="/medgen/5514" ref="tree=MeSH" title="MedGen record for Hepatic veno-occlusive disease">Hepatic veno-occlusive disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814344" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the liver">Aplasia/Hypoplasia of the liver</a></span><ul><li><span class="TLline"><a href="/medgen/488824" ref="tree=MeSH" title="MedGen record for Hepatic agenesis">Hepatic agenesis</a></span></li><li><span class="TLline"><a href="/medgen/1814345" ref="tree=MeSH" title="MedGen record for Segmental hypoplasia of liver">Segmental hypoplasia of liver</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7368" ref="tree=MeSH" title="MedGen record for Cirrhosis of liver">Cirrhosis of liver</a></span><ul><li><span class="TLline"><a href="/medgen/6125" ref="tree=MeSH" title="MedGen record for Alcoholic liver cirrhosis">Alcoholic liver cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/44182" ref="tree=MeSH" title="MedGen record for Biliary cirrhosis">Biliary cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/1676576" ref="tree=MeSH" title="MedGen record for Cirrhosis of the Liver Secondary to Hepatitis B">Cirrhosis of the Liver Secondary to Hepatitis B</a></span></li><li><span class="TLline"><a href="/medgen/82760" ref="tree=MeSH" title="MedGen record for Cirrhosis, cryptogenic">Cirrhosis, cryptogenic</a></span></li><li><span class="TLline"><a href="/medgen/1674707" ref="tree=MeSH" title="MedGen record for Hepatitis C induced liver cirrhosis">Hepatitis C induced liver cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/384466" ref="tree=MeSH" title="MedGen record for Macronodular cirrhosis">Macronodular cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/75640" ref="tree=MeSH" title="MedGen record for Micronodular cirrhosis">Micronodular cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/853247" ref="tree=MeSH" title="MedGen record for Mixed cirrhosis">Mixed cirrhosis</a></span></li><li><span class="TLline"><a href="/medgen/351440" ref="tree=MeSH" title="MedGen record for Portal cirrhosis">Portal cirrhosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1643791" ref="tree=MeSH" title="MedGen record for Cystic liver disease">Cystic liver disease</a></span><ul><li><span class="TLline"><a href="/medgen/56388" ref="tree=MeSH" title="MedGen record for Autosomal dominant polycystic liver disease">Autosomal dominant polycystic liver disease</a></span></li><li><span class="TLline"><a href="/medgen/82761" ref="tree=MeSH" title="MedGen record for Hepatic cysts">Hepatic cysts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870773" ref="tree=MeSH" title="MedGen record for Degenerative liver disease">Degenerative liver disease</a></span></li><li><span class="TLline"><a href="/medgen/870570" ref="tree=MeSH" title="MedGen record for Depletion of mitochondrial DNA in liver">Depletion of mitochondrial DNA in liver</a></span></li><li><span class="TLline"><a href="/medgen/609057" ref="tree=MeSH" title="MedGen record for Ectopic liver">Ectopic liver</a></span></li><li><span class="TLline"><a href="/medgen/75642" ref="tree=MeSH" title="MedGen record for Hepatic amyloidosis">Hepatic amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/490154" ref="tree=MeSH" title="MedGen record for Hepatic calcification">Hepatic calcification</a></span></li><li><span class="TLline"><a href="/medgen/116093" ref="tree=MeSH" title="MedGen record for Hepatic fibrosis">Hepatic fibrosis</a></span><ul><li><span class="TLline"><a href="/medgen/40449" ref="tree=MeSH" title="MedGen record for Congenital hepatic fibrosis">Congenital hepatic fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/868315" ref="tree=MeSH" title="MedGen record for Hepatic bridging fibrosis">Hepatic bridging fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/337906" ref="tree=MeSH" title="MedGen record for Periportal fibrosis">Periportal fibrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868707" ref="tree=MeSH" title="MedGen record for Hepatic granulomatosis">Hepatic granulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/508812" ref="tree=MeSH" title="MedGen record for Hepatic infarction">Hepatic infarction</a></span></li><li><span class="TLline"><a href="/medgen/57487" ref="tree=MeSH" title="MedGen record for Hepatic necrosis">Hepatic necrosis</a></span><ul><li><span class="TLline"><a href="/medgen/852664" ref="tree=MeSH" title="MedGen record for Hepatic periportal necrosis">Hepatic periportal necrosis</a></span></li><li><span class="TLline"><a href="/medgen/343247" ref="tree=MeSH" title="MedGen record for Hepatocellular necrosis">Hepatocellular necrosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841764" ref="tree=MeSH" title="MedGen record for Hepatic xanthomatosis">Hepatic xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/5515" ref="tree=MeSH" title="MedGen record for Hepatitis">Hepatitis</a></span><ul><li><span class="TLline"><a href="/medgen/82759" ref="tree=MeSH" title="MedGen record for Acute hepatitis">Acute hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/42422" ref="tree=MeSH" title="MedGen record for Alcoholic hepatitis">Alcoholic hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/338473" ref="tree=MeSH" title="MedGen record for Atypical or prolonged hepatitis">Atypical or prolonged hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/1666753" ref="tree=MeSH" title="MedGen record for Autoimmune hepatitis">Autoimmune hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/9223" ref="tree=MeSH" title="MedGen record for Chronic hepatitis">Chronic hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/86223" ref="tree=MeSH" title="MedGen record for Fulminant hepatitis">Fulminant hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/45030" ref="tree=MeSH" title="MedGen record for Giant cell hepatitis">Giant cell hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/115987" ref="tree=MeSH" title="MedGen record for Granulomatous hepatitis">Granulomatous hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/42423" ref="tree=MeSH" title="MedGen record for Hepatitis, Animal">Hepatitis, Animal</a></span></li><li><span class="TLline"><a href="/medgen/5521" ref="tree=MeSH" title="MedGen record for Hepatitis, Viral, Human">Hepatitis, Viral, Human</a></span></li><li><span class="TLline"><a href="/medgen/1694661" ref="tree=MeSH" title="MedGen record for Interface hepatitis">Interface hepatitis</a></span></li><li><span class="TLline"><a href="/medgen/469032" ref="tree=MeSH" title="MedGen record for Metabolic dysfunction-associated steatohepatitis">Metabolic dysfunction-associated steatohepatitis</a></span></li><li><span class="TLline"><a href="/medgen/22652" ref="tree=MeSH" title="MedGen record for Viral hepatitis">Viral hepatitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42428" ref="tree=MeSH" title="MedGen record for Hepatomegaly">Hepatomegaly</a></span><ul><li><span class="TLline"><a href="/medgen/372149" ref="tree=MeSH" title="MedGen record for Fluctuating hepatomegaly">Fluctuating hepatomegaly</a></span></li><li><span class="TLline"><a href="/medgen/9225" ref="tree=MeSH" title="MedGen record for Hepatosplenomegaly">Hepatosplenomegaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1666700" ref="tree=MeSH" title="MedGen record for Hepatopulmonary fusion">Hepatopulmonary fusion</a></span></li><li><span class="TLline"><a href="/medgen/1053685" ref="tree=MeSH" title="MedGen record for Intrahepatic inclusion bodies">Intrahepatic inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/6124" ref="tree=MeSH" title="MedGen record for Liver abscess">Liver abscess</a></span><ul><li><span class="TLline"><a href="/medgen/7366" ref="tree=MeSH" title="MedGen record for Amebic liver abscess">Amebic liver abscess</a></span></li><li><span class="TLline"><a href="/medgen/75641" ref="tree=MeSH" title="MedGen record for Pyogenic hepatic abscess">Pyogenic hepatic abscess</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1053581" ref="tree=MeSH" title="MedGen record for Liver rupture">Liver rupture</a></span></li><li><span class="TLline"><a href="/medgen/766591" ref="tree=MeSH" title="MedGen record for Midline liver">Midline liver</a></span></li><li><span class="TLline"><a href="/medgen/1830387" ref="tree=MeSH" title="MedGen record for Nodular regenerative hyperplasia of the liver">Nodular regenerative hyperplasia of the liver</a></span></li><li><span class="TLline"><a href="/medgen/1864136" ref="tree=MeSH" title="MedGen record for Perihepatic enhancement">Perihepatic enhancement</a></span></li><li><span class="TLline"><a href="/medgen/1863438" ref="tree=MeSH" title="MedGen record for Scalloped appearance of liver surface">Scalloped appearance of liver surface</a></span></li></ul></li><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="TLline"><a href="/medgen/1842041" ref="tree=MeSH" title="MedGen record for Decreased portal vein velocity">Decreased portal vein velocity</a></span></li><li><span class="TLline"><a href="/medgen/3042" ref="tree=MeSH" title="MedGen record for Intrahepatic cholestasis">Intrahepatic cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/39014" ref="tree=MeSH" title="MedGen record for Arteriohepatic dysplasia">Arteriohepatic dysplasia</a></span></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></li></ul></li><li><span class="TLline"><a href="/medgen/548536" ref="tree=MeSH" title="MedGen record for Pulsatile liver">Pulsatile liver</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/184895" ref="tree=MeSH" title="MedGen record for Abnormality of the biliary system">Abnormality of the biliary system</a></span><ul><li><span class="TLline"><a href="/medgen/539793" ref="tree=MeSH" title="MedGen record for Abnormality of the gallbladder">Abnormality of the gallbladder</a></span><ul><li><span class="TLline"><a href="/medgen/868507" ref="tree=MeSH" title="MedGen record for Abnormal gallbladder morphology">Abnormal gallbladder morphology</a></span></li><li><span class="TLline"><a href="/medgen/868506" ref="tree=MeSH" title="MedGen record for Abnormal gallbladder physiology">Abnormal gallbladder physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/108201" ref="tree=MeSH" title="MedGen record for Biliary tract abnormality">Biliary tract abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866739" ref="tree=MeSH" title="MedGen record for Abnormal biliary tract morphology">Abnormal biliary tract morphology</a></span></li><li><span class="TLline"><a href="/medgen/868505" ref="tree=MeSH" title="MedGen record for Abnormal biliary tract physiology">Abnormal biliary tract physiology</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/925" ref="tree=MeSH" title="MedGen record for Cholestasis">Cholestasis</a></span><ul><li><span class="TLline"><a href="/medgen/163651" ref="tree=MeSH" title="MedGen record for Cholestatic liver disease">Cholestatic liver disease</a></span></li><li><span class="TLline"><a href="/medgen/2241" ref="tree=MeSH" title="MedGen record for Extrahepatic cholestasis">Extrahepatic cholestasis</a></span></li><li><span class="TLline"><a href="/medgen/43987" ref="tree=MeSH" title="MedGen record for Jaundice">Jaundice</a></span></li><li><span class="TLline"><a href="/medgen/120605" ref="tree=MeSH" title="MedGen record for Mirizzi syndrome">Mirizzi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/475934" ref="tree=MeSH" title="MedGen record for Parenteral nutrition-associated cholestasis">Parenteral nutrition-associated cholestasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/346605" ref="tree=MeSH" title="MedGen record for Malformation of the hepatic ductal plate">Malformation of the hepatic ductal plate</a></span></li><li><span class="TLline"><a href="/medgen/893107" ref="tree=MeSH" title="MedGen record for Portal fibrosis">Portal fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/412612" ref="tree=MeSH" title="MedGen record for Portal inflammation">Portal inflammation</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_83401"><div><strong>Blue rubber bleb nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83401</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.">C0346072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83401">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_105489"><div><strong>Atransferrinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105489</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.">C0521802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Absence of transferrin, a protein that transports iron, in the blood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/105489">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344659"><div><strong>Hepatic veno-occlusive disease-immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344659</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.">C1856128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by (1) combined immunodeficiency and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifesting as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T and B cells, absent lymph node germinal centers, and absent tissue plasma cells. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur. In the past the prognosis for affected individuals was poor, with 100% mortality in the first year of life if unrecognized and untreated with intravenous or subcutaneous immunoglobulin (IVIG/SCIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment, including the more recent use of defibrotide, there is a marked improvement in prognosis. Early hematopoietic stem cell transplantation (HSCT) using non-hepatoxic drugs in conditioning and prophylactic defibrotide is potentially curative.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344659">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350480"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350480</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.">C1864668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Progressive external ophthalmoplegia-4 (PEOA4) is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350480">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482058"><div><strong>Alpha-methylacyl-CoA racemase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482058</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.">C3280428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482058">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha-methylacyl-CoA racemase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_105489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atransferrinemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue rubber bleb nevus</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic veno-occlusive disease-immunodeficiency syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/38851997">EASL-EASD-EASO Clinical Practice Guidelines on the management of metabolic dysfunction-associated steatotic liver disease (MASLD).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">European Association for the Study of the Liver (EASL);
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European Association for the Study of Diabetes (EASD);
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European Association for the Study of Obesity (EASO)</span><br />
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<span class="medgenPMjournal">J Hepatol</span>
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2024 Sep;81(3):492-542.
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Epub 2024 Jun 7
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doi: 10.1016/j.jhep.2024.04.031.
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<span class="bold">PMID: </span><a href="/pubmed/38851997" target="_blank">38851997</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36257874">Diagnosis and management of choledochal cysts.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brown ZJ,
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Baghdadi A,
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Kamel I,
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Labiner HE,
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Hewitt DB,
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Pawlik TM</span><br />
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<span class="medgenPMjournal">HPB (Oxford)</span>
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2023 Jan;25(1):14-25.
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Epub 2022 Oct 5
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doi: 10.1016/j.hpb.2022.09.010.
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||
<span class="bold">PMID: </span><a href="/pubmed/36257874" target="_blank">36257874</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34850148">Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Feldman AG,
|
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Sokol RJ</span><br />
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<span class="medgenPMjournal">Neoreviews</span>
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||
2021 Dec 1;22(12):e819-e836.
|
||
doi: 10.1542/neo.22-12-e819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34850148" target="_blank">34850148</a><a href="/pmc/articles/PMC10103174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20liver)%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 (1888)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Tyrosine.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Tryosine-Elevated-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37408200">Organ Abnormalities Caused by Turner Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SH,
|
||
Kim GY,
|
||
Choi GT,
|
||
Do JT</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2023 May 11;12(10)
|
||
doi: 10.3390/cells12101365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37408200" target="_blank">37408200</a><a href="/pmc/articles/PMC10216333" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37261604">Choledochal cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cazares J,
|
||
Koga H,
|
||
Yamataka A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2023 Jun 1;39(1):209.
|
||
doi: 10.1007/s00383-023-05483-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37261604" target="_blank">37261604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36027900">Congenital Hepatopulmonary Fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rocha GMD</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2022 Dec;32(6):477-496.
|
||
Epub 2022 Aug 26
|
||
doi: 10.1055/s-0042-1749213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36027900" target="_blank">36027900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30790186">Neonatal Jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbey P,
|
||
Kandasamy D,
|
||
Naranje P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2019 Sep;86(9):830-841.
|
||
Epub 2019 Feb 21
|
||
doi: 10.1007/s12098-019-02856-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30790186" target="_blank">30790186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9643292">Meckel syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salonen R,
|
||
Paavola P</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1998 Jun;35(6):497-501.
|
||
doi: 10.1136/jmg.35.6.497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9643292" target="_blank">9643292</a><a href="/pmc/articles/PMC1051345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (17060)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31593772">Ectopic Thyroid Gland Tissue in the Liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen M,
|
||
Hu J,
|
||
Cai X</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2020 Dec;18(13):e157.
|
||
Epub 2019 Oct 5
|
||
doi: 10.1016/j.cgh.2019.09.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31593772" target="_blank">31593772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27049614">Neonates of mothers who have had kidney or liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wielgos M,
|
||
Pietrzak B,
|
||
Mazanowska N,
|
||
Kociszewska-Najman B</span><br />
|
||
<span class="medgenPMjournal">J Perinat Med</span>
|
||
2016 Aug 1;44(6):691-4.
|
||
doi: 10.1515/jpm-2016-0020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27049614" target="_blank">27049614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18501687">Chilaiditi's sign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel T,
|
||
Berthel M</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2009 Jan;41(1):71.
|
||
Epub 2008 May 22
|
||
doi: 10.1016/j.dld.2008.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18501687" target="_blank">18501687</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9443685">Biliary atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefkowitch JH</span><br />
|
||
<span class="medgenPMjournal">Mayo Clin Proc</span>
|
||
1998 Jan;73(1):90-5.
|
||
doi: 10.1016/S0025-6196(11)63625-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9443685" target="_blank">9443685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4915004">Riboflavin metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivlin RS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1970 Aug 27;283(9):463-72.
|
||
doi: 10.1056/NEJM197008272830906.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4915004" target="_blank">4915004</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (17696)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37935200">Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD-a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cukoski S,
|
||
Lindemann CH,
|
||
Arjune S,
|
||
Todorova P,
|
||
Brecht T,
|
||
Kühn A,
|
||
Oehm S,
|
||
Strubl S,
|
||
Becker I,
|
||
Kämmerer U,
|
||
Torres JA,
|
||
Meyer F,
|
||
Schömig T,
|
||
Hokamp NG,
|
||
Siedek F,
|
||
Gottschalk I,
|
||
Benzing T,
|
||
Schmidt J,
|
||
Antczak P,
|
||
Weimbs T,
|
||
Grundmann F,
|
||
Müller RU</span><br />
|
||
<span class="medgenPMjournal">Cell Rep Med</span>
|
||
2023 Nov 21;4(11):101283.
|
||
Epub 2023 Nov 7
|
||
doi: 10.1016/j.xcrm.2023.101283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37935200" target="_blank">37935200</a><a href="/pmc/articles/PMC10694658" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27346637">Biliary atresia: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lakshminarayanan B,
|
||
Davenport M</span><br />
|
||
<span class="medgenPMjournal">J Autoimmun</span>
|
||
2016 Sep;73:1-9.
|
||
Epub 2016 Jun 23
|
||
doi: 10.1016/j.jaut.2016.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27346637" target="_blank">27346637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27326810">International Liver Transplant Society Practice Guidelines: Diagnosis and Management of Hepatopulmonary Syndrome and Portopulmonary Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krowka MJ,
|
||
Fallon MB,
|
||
Kawut SM,
|
||
Fuhrmann V,
|
||
Heimbach JK,
|
||
Ramsay MA,
|
||
Sitbon O,
|
||
Sokol RJ</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2016 Jul;100(7):1440-52.
|
||
doi: 10.1097/TP.0000000000001229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27326810" target="_blank">27326810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16473644">Hepatotoxicity of chemotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Floyd J,
|
||
Mirza I,
|
||
Sachs B,
|
||
Perry MC</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
2006 Feb;33(1):50-67.
|
||
doi: 10.1053/j.seminoncol.2005.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16473644" target="_blank">16473644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10999421">Adverse effects of creatine supplementation: fact or fiction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poortmans JR,
|
||
Francaux M</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2000 Sep;30(3):155-70.
|
||
doi: 10.2165/00007256-200030030-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10999421" target="_blank">10999421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (11841)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36027900">Congenital Hepatopulmonary Fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rocha GMD</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2022 Dec;32(6):477-496.
|
||
Epub 2022 Aug 26
|
||
doi: 10.1055/s-0042-1749213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36027900" target="_blank">36027900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34608985">Assessment of the incidence of accessory hepatic arteries: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malicki M,
|
||
Marcinkowska W,
|
||
Georgiev GP,
|
||
Zielinska N,
|
||
Olewnik Ł</span><br />
|
||
<span class="medgenPMjournal">Folia Morphol (Warsz)</span>
|
||
2022;81(3):533-543.
|
||
Epub 2021 Oct 5
|
||
doi: 10.5603/FM.a2021.0081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34608985" target="_blank">34608985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32856229">Pediatric Hepatocellular Carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varol Fİ</span><br />
|
||
<span class="medgenPMjournal">J Gastrointest Cancer</span>
|
||
2020 Dec;51(4):1169-1175.
|
||
doi: 10.1007/s12029-020-00494-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32856229" target="_blank">32856229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26276223">Predisposing Factors for Spontaneous Closure of Congenital Portosystemic Shunts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paganelli M,
|
||
Lipsich JE,
|
||
Sciveres M,
|
||
Alvarez F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2015 Oct;167(4):931-935.e12.
|
||
Epub 2015 Aug 12
|
||
doi: 10.1016/j.jpeds.2015.06.073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26276223" target="_blank">26276223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15143226">Congenital hepatic shunts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallego C,
|
||
Miralles M,
|
||
Marín C,
|
||
Muyor P,
|
||
González G,
|
||
García-Hidalgo E</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2004 May-Jun;24(3):755-72.
|
||
doi: 10.1148/rg.243035046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15143226" target="_blank">15143226</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (10896)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29887260">A systematic review of the anatomical findings of multiple gallbladders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darnis B,
|
||
Mohkam K,
|
||
Cauchy F,
|
||
Cazauran JB,
|
||
Bancel B,
|
||
Rode A,
|
||
Ducerf C,
|
||
Lesurtel M,
|
||
Mabrut JY</span><br />
|
||
<span class="medgenPMjournal">HPB (Oxford)</span>
|
||
2018 Nov;20(11):985-991.
|
||
Epub 2018 Jun 7
|
||
doi: 10.1016/j.hpb.2018.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29887260" target="_blank">29887260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27160101">An Observation from Liver Biopsies Two Decades Post-Fontan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Evans WN,
|
||
Acherman RJ,
|
||
Reardon LC,
|
||
Galindo A,
|
||
Rothman A,
|
||
Ciccolo ML,
|
||
Carrillo SA,
|
||
Winn BJ,
|
||
Yumiaco NS,
|
||
Restrepo H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2016 Aug;37(6):1119-22.
|
||
Epub 2016 May 9
|
||
doi: 10.1007/s00246-016-1403-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27160101" target="_blank">27160101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25400438">Histopathology of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi Y,
|
||
Fukusato T</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2014 Nov 14;20(42):15539-48.
|
||
doi: 10.3748/wjg.v20.i42.15539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25400438" target="_blank">25400438</a><a href="/pmc/articles/PMC4229519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22325418">Hepatogonadal fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fan R,
|
||
Faught PR,
|
||
Sun J,
|
||
Meldrum KK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2012 Feb;47(2):e5-6.
|
||
doi: 10.1016/j.jpedsurg.2011.10.071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22325418" target="_blank">22325418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17408305">Drug-induced liver injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abboud G,
|
||
Kaplowitz N</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2007;30(4):277-94.
|
||
doi: 10.2165/00002018-200730040-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17408305" target="_blank">17408305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (11435)</a></div></div>
|
||
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|
||
|
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<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>
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||
<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37056675">The crucial role and mechanism of insulin resistance in metabolic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao X,
|
||
An X,
|
||
Yang C,
|
||
Sun W,
|
||
Ji H,
|
||
Lian F</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1149239.
|
||
Epub 2023 Mar 28
|
||
doi: 10.3389/fendo.2023.1149239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37056675" target="_blank">37056675</a><a href="/pmc/articles/PMC10086443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32633805">Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gertz MA,
|
||
Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2020 Jul 7;324(1):79-89.
|
||
doi: 10.1001/jama.2020.5493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32633805" target="_blank">32633805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32244180">Metabolic dysfunction in polycystic ovary syndrome: Pathogenic role of androgen excess and potential therapeutic strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Garrido MA,
|
||
Tena-Sempere M</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2020 May;35:100937.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1016/j.molmet.2020.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32244180" target="_blank">32244180</a><a href="/pmc/articles/PMC7115104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30077342">Monitoring nutrition in the ICU.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berger MM,
|
||
Reintam-Blaser A,
|
||
Calder PC,
|
||
Casaer M,
|
||
Hiesmayr MJ,
|
||
Mayer K,
|
||
Montejo JC,
|
||
Pichard C,
|
||
Preiser JC,
|
||
van Zanten ARH,
|
||
Bischoff SC,
|
||
Singer P</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2019 Apr;38(2):584-593.
|
||
Epub 2018 Jul 20
|
||
doi: 10.1016/j.clnu.2018.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30077342" target="_blank">30077342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27297122">Impact of fetal alcohol exposure on body systems: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caputo C,
|
||
Wood E,
|
||
Jabbour L</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res C Embryo Today</span>
|
||
2016 Jun;108(2):174-80.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1002/bdrc.21129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27297122" target="_blank">27297122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20liver%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 (357)</a></div></div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021780%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C4021780%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (15)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4021780%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Sp110 nuclear body protein; AltName: Full=Interferon-induced protein 41/75; AltName: Full=Speckled 110 kDa; AltName: Full=Transcriptional coactivator Sp110<div class="brieflinkpopdesc">gi|313104323|sp|Q9HB58.5|SP110_HUMA</div></div>
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