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Abnormality of the liver

MedGen UID:
893061
Concept ID:
C4021780
Finding
Synonyms: 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
 
HPO: HP:0001392
Monarch Initiative: MONDO:0005154

Definition

An abnormality of the liver. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the liver

Conditions with this feature

Blue rubber bleb nevus
MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Atransferrinemia
MedGen UID:
105489
Concept ID:
C0521802
Disease or Syndrome
Absence of transferrin, a protein that transports iron, in the blood.
Hepatic veno-occlusive disease-immunodeficiency syndrome
MedGen UID:
344659
Concept ID:
C1856128
Disease or Syndrome
Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by: (1) primary immunodeficiency; and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifest 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 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 immunoglobulin (IVIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment there is a marked improvement in prognosis.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
MedGen UID:
350480
Concept ID:
C1864668
Disease or Syndrome
Progressive external ophthalmoplegia-4 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).
Alpha-methylacyl-CoA racemase deficiency
MedGen UID:
482058
Concept ID:
C3280428
Disease or Syndrome
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).

Professional guidelines

PubMed

Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
Daily JP, Minuti A, Khan N
JAMA 2022 Aug 2;328(5):460-471. doi: 10.1001/jama.2022.12366. PMID: 35916842
Feldman AG, Sokol RJ
Neoreviews 2021 Dec 1;22(12):e819-e836. doi: 10.1542/neo.22-12-e819. PMID: 34850148Free PMC Article

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022

American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022

Recent clinical studies

Etiology

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Cazares J, Koga H, Yamataka A
Pediatr Surg Int 2023 Jun 1;39(1):209. doi: 10.1007/s00383-023-05483-1. PMID: 37261604
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Abbey P, Kandasamy D, Naranje P
Indian J Pediatr 2019 Sep;86(9):830-841. Epub 2019 Feb 21 doi: 10.1007/s12098-019-02856-0. PMID: 30790186
Papamichail M, Pizanias M, Heaton N
Eur J Pediatr 2018 Mar;177(3):285-294. Epub 2017 Dec 14 doi: 10.1007/s00431-017-3058-x. PMID: 29243189Free PMC Article

Diagnosis

Albers BK, Khanna G
Radiographics 2019 May-Jun;39(3):842-856. doi: 10.1148/rg.2019180146. PMID: 31059404
Papamichail M, Pizanias M, Heaton N
Eur J Pediatr 2018 Mar;177(3):285-294. Epub 2017 Dec 14 doi: 10.1007/s00431-017-3058-x. PMID: 29243189Free PMC Article
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157
Salonen R, Paavola P
J Med Genet 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497. PMID: 9643292Free PMC Article
Lefkowitch JH
Mayo Clin Proc 1998 Jan;73(1):90-5. doi: 10.1016/S0025-6196(11)63625-2. PMID: 9443685

Therapy

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
Cell Rep Med 2023 Nov 21;4(11):101283. Epub 2023 Nov 7 doi: 10.1016/j.xcrm.2023.101283. PMID: 37935200Free PMC Article
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Krowka MJ, Fallon MB, Kawut SM, Fuhrmann V, Heimbach JK, Ramsay MA, Sitbon O, Sokol RJ
Transplantation 2016 Jul;100(7):1440-52. doi: 10.1097/TP.0000000000001229. PMID: 27326810
Floyd J, Mirza I, Sachs B, Perry MC
Semin Oncol 2006 Feb;33(1):50-67. doi: 10.1053/j.seminoncol.2005.11.002. PMID: 16473644
Poortmans JR, Francaux M
Sports Med 2000 Sep;30(3):155-70. doi: 10.2165/00007256-200030030-00002. PMID: 10999421

Prognosis

Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Varol Fİ
J Gastrointest Cancer 2020 Dec;51(4):1169-1175. doi: 10.1007/s12029-020-00494-w. PMID: 32856229
Jancelewicz T, Brindle ME
Semin Perinatol 2020 Feb;44(1):151165. Epub 2019 Jul 31 doi: 10.1053/j.semperi.2019.07.004. PMID: 31676044
Buscarini E, Gandolfi S, Alicante S, Londoni C, Manfredi G
Abdom Radiol (NY) 2018 Aug;43(8):1920-1930. doi: 10.1007/s00261-018-1671-4. PMID: 29987403
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637

Clinical prediction guides

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Antounians L, Zani A
Pediatr Surg Int 2023 May 9;39(1):194. doi: 10.1007/s00383-023-05471-5. PMID: 37160490
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Takahashi Y, Fukusato T
World J Gastroenterol 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. PMID: 25400438Free PMC Article
Abboud G, Kaplowitz N
Drug Saf 2007;30(4):277-94. doi: 10.2165/00002018-200730040-00001. PMID: 17408305

Recent systematic reviews

Zhao X, An X, Yang C, Sun W, Ji H, Lian F
Front Endocrinol (Lausanne) 2023;14:1149239. Epub 2023 Mar 28 doi: 10.3389/fendo.2023.1149239. PMID: 37056675Free PMC Article
Behrangi E, Barough MS, Khoramdad M, Hejazi P, Koltapeh MP, Goodarzi A
J Cosmet Dermatol 2022 Dec;21(12):6644-6652. Epub 2022 Oct 24 doi: 10.1111/jocd.15425. PMID: 36177815
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
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
Clin Nutr 2019 Apr;38(2):584-593. Epub 2018 Jul 20 doi: 10.1016/j.clnu.2018.07.009. PMID: 30077342
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122

Supplemental Content

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    Clinical resources

    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022

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