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Micronodular cirrhosis

MedGen UID:
75640
Concept ID:
C0267812
Disease or Syndrome
SNOMED CT: Micronodular cirrhosis (21861000)
 
HPO: HP:0001413

Definition

A type of cirrhosis characterized by the presence of small regenerative nodules. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicronodular cirrhosis

Conditions with this feature

Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Arginase deficiency
MedGen UID:
78688
Concept ID:
C0268548
Disease or Syndrome
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.
Deficiency of transaldolase
MedGen UID:
224855
Concept ID:
C1291329
Disease or Syndrome
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).
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MedGen UID:
338045
Concept ID:
C1850406
Disease or Syndrome
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.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MedGen UID:
348124
Concept ID:
C1860518
Disease or Syndrome
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.
Cirrhosis, familial
MedGen UID:
350049
Concept ID:
C1861556
Disease or Syndrome
Cirrhosis in which no causative agent can be identified.
Hepatocellular carcinoma
MedGen UID:
389187
Concept ID:
C2239176
Neoplastic Process
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).
Ferro-cerebro-cutaneous syndrome
MedGen UID:
1658844
Concept ID:
C4751570
Disease or Syndrome
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
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 psychomotor retardation) 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.
Congenital disorder of glycosylation, type IIr
MedGen UID:
1717186
Concept ID:
C5393313
Disease or Syndrome
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). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Retinitis pigmentosa 89
MedGen UID:
1710499
Concept ID:
C5394552
Disease or Syndrome
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). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.
Cholestasis, progressive familial intrahepatic, 9
MedGen UID:
1809292
Concept ID:
C5676973
Disease or Syndrome
Progressive familial intrahepatic cholestasis-9 (PFIC9) is an autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Affected individuals have hepatosplenomegaly and may have portal hypertension or upper gastrointestinal bleeding. Liver biopsy shows fibrosis, cirrhosis, bile duct proliferation, and abnormal bile duct morphology. The disorder is thought to result from ciliary defects in cholangiocytes, consistent with a ciliopathy that appears to be restricted to the liver. Treatment with ursodeoxycholic acid (UDCA) or liver transplant is effective (Luan et al., 2021). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).

Recent clinical studies

Etiology

Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J
Hepatobiliary Pancreat Dis Int 2020 Feb;19(1):17-21. Epub 2019 Aug 24 doi: 10.1016/j.hbpd.2019.08.004. PMID: 31474443
Ma C, Crippin JS, Chapman WC, Korenblat K, Vachharajani N, Gunter KL, Brunt EM
Liver Transpl 2013 Jul;19(7):741-50. Epub 2013 Jun 3 doi: 10.1002/lt.23632. PMID: 23463612
Mandigers PJ, van den Ingh TS, Spee B, Penning LC, Bode P, Rothuizen J
Vet Q 2004 Sep;26(3):98-106. doi: 10.1080/01652176.2004.9695173. PMID: 15559390
Baban NK, Hubbs DT, Roy TM
South Med J 1997 May;90(5):535-8. doi: 10.1097/00007611-199705000-00015. PMID: 9160075
Fauerholdt L, Schlichting P, Christensen E, Poulsen H, Tygstrup N, Juhl E
Hepatology 1983 Nov-Dec;3(6):928-31. doi: 10.1002/hep.1840030607. PMID: 6629323

Diagnosis

Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J
Hepatobiliary Pancreat Dis Int 2020 Feb;19(1):17-21. Epub 2019 Aug 24 doi: 10.1016/j.hbpd.2019.08.004. PMID: 31474443
Yip WW, Burt AD
Semin Diagn Pathol 2006 Aug-Nov;23(3-4):149-60. doi: 10.1053/j.semdp.2006.11.002. PMID: 17355088
Tanner MS
Am J Clin Nutr 1998 May;67(5 Suppl):1074S-1081S. doi: 10.1093/ajcn/67.5.1074S. PMID: 9587155
Baban NK, Hubbs DT, Roy TM
South Med J 1997 May;90(5):535-8. doi: 10.1097/00007611-199705000-00015. PMID: 9160075
Fauerholdt L, Schlichting P, Christensen E, Poulsen H, Tygstrup N, Juhl E
Hepatology 1983 Nov-Dec;3(6):928-31. doi: 10.1002/hep.1840030607. PMID: 6629323

Therapy

Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J
Hepatobiliary Pancreat Dis Int 2020 Feb;19(1):17-21. Epub 2019 Aug 24 doi: 10.1016/j.hbpd.2019.08.004. PMID: 31474443
Mandigers PJ, van den Ingh TS, Spee B, Penning LC, Bode P, Rothuizen J
Vet Q 2004 Sep;26(3):98-106. doi: 10.1080/01652176.2004.9695173. PMID: 15559390
Gordeuk VR
Semin Hematol 2002 Oct;39(4):263-9. doi: 10.1053/shem.2002.35636. PMID: 12382201
Rumessen JJ
Acta Med Scand 1986;219(2):235-9. doi: 10.1111/j.0954-6820.1986.tb03304.x. PMID: 3962737
Fauerholdt L, Schlichting P, Christensen E, Poulsen H, Tygstrup N, Juhl E
Hepatology 1983 Nov-Dec;3(6):928-31. doi: 10.1002/hep.1840030607. PMID: 6629323

Prognosis

Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J
Hepatobiliary Pancreat Dis Int 2020 Feb;19(1):17-21. Epub 2019 Aug 24 doi: 10.1016/j.hbpd.2019.08.004. PMID: 31474443
Zeng QA, Qiu J, Hong J, Li Y, Li S, Zou R, Huang P, Li B, Zheng Y, Lao X, Yuan Y
Eur J Gastroenterol Hepatol 2012 May;24(5):575-82. doi: 10.1097/MEG.0b013e328351046a. PMID: 22293332
Yip WW, Burt AD
Semin Diagn Pathol 2006 Aug-Nov;23(3-4):149-60. doi: 10.1053/j.semdp.2006.11.002. PMID: 17355088
Tanner MS
Am J Clin Nutr 1998 May;67(5 Suppl):1074S-1081S. doi: 10.1093/ajcn/67.5.1074S. PMID: 9587155
Fauerholdt L, Schlichting P, Christensen E, Poulsen H, Tygstrup N, Juhl E
Hepatology 1983 Nov-Dec;3(6):928-31. doi: 10.1002/hep.1840030607. PMID: 6629323

Clinical prediction guides

Smolka V, Tkachyk O, Ehrmann J, Karaskova E, Zapalka M, Volejnikova J
Hepatobiliary Pancreat Dis Int 2020 Feb;19(1):17-21. Epub 2019 Aug 24 doi: 10.1016/j.hbpd.2019.08.004. PMID: 31474443
Magalhães R, Fonseca M, Brandão I, Caridade S
BMJ Case Rep 2016 Jan 20;2016 doi: 10.1136/bcr-2015-212884. PMID: 26791119Free PMC Article
Ma C, Crippin JS, Chapman WC, Korenblat K, Vachharajani N, Gunter KL, Brunt EM
Liver Transpl 2013 Jul;19(7):741-50. Epub 2013 Jun 3 doi: 10.1002/lt.23632. PMID: 23463612
Zeng QA, Qiu J, Hong J, Li Y, Li S, Zou R, Huang P, Li B, Zheng Y, Lao X, Yuan Y
Eur J Gastroenterol Hepatol 2012 May;24(5):575-82. doi: 10.1097/MEG.0b013e328351046a. PMID: 22293332
Gordeuk VR
Semin Hematol 2002 Oct;39(4):263-9. doi: 10.1053/shem.2002.35636. PMID: 12382201

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