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<meta name="keywords" content="C0267812, disease or syndrome, micronodular cirrhosis, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A type of cirrhosis characterized by the presence of small regenerative nodules." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Micronodular cirrhosis (Concept Id: C0267812)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Micronodular cirrhosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75640</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)&#10;Click for more information.">C0267812</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
<td>Micronodular cirrhosis (21861000)</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:0001413">HP:0001413</a></td></tr>
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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">A type of cirrhosis characterized by the presence of small regenerative nodules. [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>
<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=C0267812[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=75640">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Micronodular cirrhosis</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/1616314" ref="tree=MeSH" title="MedGen record for Abnormal liver morphology">Abnormal liver morphology</a></span><ul><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="matched_ds">Micronodular cirrhosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_60012"><div><strong>Progressive sclerosing poliodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60012</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)&#10;Click for more information.">C0205710</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/60012">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78688"><div><strong>Arginase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78688</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0268548</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily. Individuals treated from birth, either as a result of newborn screening or having an affected older sib, appear to have minimal symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78688">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_224855"><div><strong>Deficiency of transaldolase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224855</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)&#10;Click for more information.">C1291329</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/224855">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)&#10;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_348124"><div><strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348124</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)&#10;Click for more information.">C1860518</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/348124">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350049"><div><strong>Cirrhosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350049</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)&#10;Click for more information.">C1861556</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cirrhosis in which no causative agent can be identified.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350049">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_389187"><div><strong>Hepatocellular carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>389187</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)&#10;Click for more information.">C2239176</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/389187">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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)&#10;Click for more information.">C3275508</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).&#13; For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1682503"><div><strong>Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682503</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)&#10;Click for more information.">C5191055</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and developmental delay) evident within weeks of birth. Those with isolated liver disease may also have renal involvement, and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1682503">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1717186"><div><strong>Congenital disorder of glycosylation, type IIr</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717186</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)&#10;Click for more information.">C5393313</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 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern (summary by Rujano et al., 2017).&#13; For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1717186">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1710499"><div><strong>Retinitis pigmentosa 89</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710499</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)&#10;Click for more information.">C5394552</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020).&#13; For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1710499">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)&#10;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).&#13; 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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arginase deficiency</a></div>
<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_350049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis, familial</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717186" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIr</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_224855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of transaldolase</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_389187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular carcinoma</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1682503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)</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_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_60012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive sclerosing poliodystrophy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 89</a></div></span></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/21045422">Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mitra S,
Samanta M,
Sarkar M,
Chatterjee S</span><br />
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
2010 Oct-Dec;53(4):799-801.
doi: 10.4103/0377-4929.72098.
<span class="bold">PMID: </span><a href="/pubmed/21045422" target="_blank">21045422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15559390">Chronic hepatitis in Doberman pinschers. A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mandigers PJ,
van den Ingh TS,
Spee B,
Penning LC,
Bode P,
Rothuizen J</span><br />
<span class="medgenPMjournal">Vet Q</span>
2004 Sep;26(3):98-106.
doi: 10.1080/01652176.2004.9695173.
<span class="bold">PMID: </span><a href="/pubmed/15559390" target="_blank">15559390</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9160075">Wilson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baban NK,
Hubbs DT,
Roy TM</span><br />
<span class="medgenPMjournal">South Med J</span>
1997 May;90(5):535-8.
doi: 10.1097/00007611-199705000-00015.
<span class="bold">PMID: </span><a href="/pubmed/9160075" target="_blank">9160075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6969525">Alpha-1-antitrypsin globules in liver biopsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clausen PP</span><br />
<span class="medgenPMjournal">Acta Pathol Microbiol Scand A</span>
1980 Jul;88(4):225-30.
doi: 10.1111/j.1699-0463.1980.tb02490.x.
<span class="bold">PMID: </span><a href="/pubmed/6969525" target="_blank">6969525</a></div>
<div class="nl"><a target="_blank" href="/pubmed/427687">Porphyria cutanea tarda: clinical and laboratory features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney GD,
Jones KG</span><br />
<span class="medgenPMjournal">Can Med Assoc J</span>
1979 Apr 7;120(7):803-7.
<span class="bold">PMID: </span><a href="/pubmed/427687" target="_blank">427687</a><a href="/pmc/articles/PMC1818968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Micronodular%20cirrhosis%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 (42)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21045422">Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mitra S,
Samanta M,
Sarkar M,
Chatterjee S</span><br />
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
2010 Oct-Dec;53(4):799-801.
doi: 10.4103/0377-4929.72098.
<span class="bold">PMID: </span><a href="/pubmed/21045422" target="_blank">21045422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17355088">Alcoholic liver disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yip WW,
Burt AD</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2006 Aug-Nov;23(3-4):149-60.
doi: 10.1053/j.semdp.2006.11.002.
<span class="bold">PMID: </span><a href="/pubmed/17355088" target="_blank">17355088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12594762">Proton transverse relaxation rate (R2) images of liver tissue; mapping local tissue iron concentrations with MRI [corrected].</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clark PR,
Chua-Anusorn W,
St Pierre TG</span><br />
<span class="medgenPMjournal">Magn Reson Med</span>
2003 Mar;49(3):572-5.
doi: 10.1002/mrm.10378.
<span class="bold">PMID: </span><a href="/pubmed/12594762" target="_blank">12594762</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9160075">Wilson's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baban NK,
Hubbs DT,
Roy TM</span><br />
<span class="medgenPMjournal">South Med J</span>
1997 May;90(5):535-8.
doi: 10.1097/00007611-199705000-00015.
<span class="bold">PMID: </span><a href="/pubmed/9160075" target="_blank">9160075</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6969525">Alpha-1-antitrypsin globules in liver biopsies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Clausen PP</span><br />
<span class="medgenPMjournal">Acta Pathol Microbiol Scand A</span>
1980 Jul;88(4):225-30.
doi: 10.1111/j.1699-0463.1980.tb02490.x.
<span class="bold">PMID: </span><a href="/pubmed/6969525" target="_blank">6969525</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Micronodular%20cirrhosis%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 (75)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/28052950">Sepsis and siderosis, Yersinia enterocolitica and hereditary haemochromatosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thwaites PA,
Woods ML</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2017 Jan 4;2017
doi: 10.1136/bcr-2016-218185.
<span class="bold">PMID: </span><a href="/pubmed/28052950" target="_blank">28052950</a><a href="/pmc/articles/PMC5256388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26791119">Autoimmune hepatitis unmasked by nimesulide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magalhães R,
Fonseca M,
Brandão I,
Caridade S</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2016 Jan 20;2016
doi: 10.1136/bcr-2015-212884.
<span class="bold">PMID: </span><a href="/pubmed/26791119" target="_blank">26791119</a><a href="/pmc/articles/PMC4735412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12382201">African iron overload.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gordeuk VR</span><br />
<span class="medgenPMjournal">Semin Hematol</span>
2002 Oct;39(4):263-9.
doi: 10.1053/shem.2002.35636.
<span class="bold">PMID: </span><a href="/pubmed/12382201" target="_blank">12382201</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3962737">Hepatotoxicity of amiodarone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rumessen JJ</span><br />
<span class="medgenPMjournal">Acta Med Scand</span>
1986;219(2):235-9.
doi: 10.1111/j.0954-6820.1986.tb03304.x.
<span class="bold">PMID: </span><a href="/pubmed/3962737" target="_blank">3962737</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6781446">Pediatric total parenteral nutrition. Liver histopathology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen C,
Olsen MM</span><br />
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
1981 Mar;105(3):152-6.
<span class="bold">PMID: </span><a href="/pubmed/6781446" target="_blank">6781446</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Micronodular%20cirrhosis%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 (48)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/21045422">Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mitra S,
Samanta M,
Sarkar M,
Chatterjee S</span><br />
<span class="medgenPMjournal">Indian J Pathol Microbiol</span>
2010 Oct-Dec;53(4):799-801.
doi: 10.4103/0377-4929.72098.
<span class="bold">PMID: </span><a href="/pubmed/21045422" target="_blank">21045422</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17355088">Alcoholic liver disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yip WW,
Burt AD</span><br />
<span class="medgenPMjournal">Semin Diagn Pathol</span>
2006 Aug-Nov;23(3-4):149-60.
doi: 10.1053/j.semdp.2006.11.002.
<span class="bold">PMID: </span><a href="/pubmed/17355088" target="_blank">17355088</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9346732">Recurrence of nonalcoholic steatohepatitis in a liver transplant recipient.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Carson K,
Washington MK,
Treem WR,
Clavien PA,
Hunt CM</span><br />
<span class="medgenPMjournal">Liver Transpl Surg</span>
1997 Mar;3(2):174-6.
doi: 10.1002/lt.500030211.
<span class="bold">PMID: </span><a href="/pubmed/9346732" target="_blank">9346732</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3909817">Hemosiderosis and hemochromatosis in renal transplant recipients. Clinical and pathological features, diagnostic correlations, predisposing factors, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rao KV,
Anderson WR</span><br />
<span class="medgenPMjournal">Am J Nephrol</span>
1985;5(6):419-30.
doi: 10.1159/000166976.
<span class="bold">PMID: </span><a href="/pubmed/3909817" target="_blank">3909817</a></div>
<div class="nl"><a target="_blank" href="/pubmed/427687">Porphyria cutanea tarda: clinical and laboratory features.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney GD,
Jones KG</span><br />
<span class="medgenPMjournal">Can Med Assoc J</span>
1979 Apr 7;120(7):803-7.
<span class="bold">PMID: </span><a href="/pubmed/427687" target="_blank">427687</a><a href="/pmc/articles/PMC1818968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Micronodular%20cirrhosis%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 (38)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/31474443">Acute onset of autoimmune hepatitis in children and adolescents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smolka V,
Tkachyk O,
Ehrmann J,
Karaskova E,
Zapalka M,
Volejnikova J</span><br />
<span class="medgenPMjournal">Hepatobiliary Pancreat Dis Int</span>
2020 Feb;19(1):17-21.
Epub 2019 Aug 24
doi: 10.1016/j.hbpd.2019.08.004.
<span class="bold">PMID: </span><a href="/pubmed/31474443" target="_blank">31474443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26791119">Autoimmune hepatitis unmasked by nimesulide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magalhães R,
Fonseca M,
Brandão I,
Caridade S</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2016 Jan 20;2016
doi: 10.1136/bcr-2015-212884.
<span class="bold">PMID: </span><a href="/pubmed/26791119" target="_blank">26791119</a><a href="/pmc/articles/PMC4735412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12382201">African iron overload.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gordeuk VR</span><br />
<span class="medgenPMjournal">Semin Hematol</span>
2002 Oct;39(4):263-9.
doi: 10.1053/shem.2002.35636.
<span class="bold">PMID: </span><a href="/pubmed/12382201" target="_blank">12382201</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11468249">Heterozygous M3Mmalton alpha1-antitrypsin deficiency associated with end-stage liver disease: case report and review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Canva V,
Piotte S,
Aubert JP,
Porchet N,
Lecomte-Houcke M,
Huet G,
Zenjari T,
Roumilhac D,
Pruvot FR,
Degand P,
Paris JC,
Balduyck M</span><br />
<span class="medgenPMjournal">Clin Chem</span>
2001 Aug;47(8):1490-6.
<span class="bold">PMID: </span><a href="/pubmed/11468249" target="_blank">11468249</a></div>
<div class="nl"><a target="_blank" href="/pubmed/190080">Disseminated cytomegalic inclusion disease in an adult with cirrhosis of liver and review of literatures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Takino T,
Ogasawara T,
Okuno T,
Takahashi T</span><br />
<span class="medgenPMjournal">Gastroenterol Jpn</span>
1976;11(4):347-55.
doi: 10.1007/BF02777376.
<span class="bold">PMID: </span><a href="/pubmed/190080" target="_blank">190080</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Micronodular%20cirrhosis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</a></div></div>
</div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0267812%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
<li><a href="/gtr/tests?term=C0267812%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0267812%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
</ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Micronodular%20cirrhosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Micronodular%20cirrhosis" target="_blank">MedlinePlus</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Micronodular%20cirrhosis" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
</li>
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<a href="/pubmed?term=Micronodular%20cirrhosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0267812[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=75640" ref="log$=recordlinks">PMC Articles</a>
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<div class="ralinkpop offscreen_noflow">Arginase Deficiency - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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