U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cholestatic liver disease

MedGen UID:
163651
Concept ID:
C0860204
Disease or Syndrome
HPO: HP:0002611

Term Hierarchy

Conditions with this feature

Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
Alagille syndrome due to a NOTCH2 point mutation
MedGen UID:
341844
Concept ID:
C1857761
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
Arthrogryposis, renal dysfunction, and cholestasis 1
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
Nephropathy, progressive tubulointerstitial, with cholestatic liver disease
MedGen UID:
355562
Concept ID:
C1865831
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
CCDC115-CDG
MedGen UID:
906792
Concept ID:
C4225191
Disease or Syndrome
Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016). For a general discussion of CDGs, see CDG1A (212065).
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MedGen UID:
1778117
Concept ID:
C5543623
Disease or Syndrome
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021). For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263).
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
MedGen UID:
1803642
Concept ID:
C5676977
Disease or Syndrome
Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).

Professional guidelines

PubMed

Hasegawa S, Yoneda M, Kurita Y, Nogami A, Honda Y, Hosono K, Nakajima A
Drugs 2021 Jul;81(10):1181-1192. Epub 2021 Jun 17 doi: 10.1007/s40265-021-01545-7. PMID: 34142342Free PMC Article
Gulamhusein AF, Hirschfield GM
Nat Rev Gastroenterol Hepatol 2020 Feb;17(2):93-110. Epub 2019 Dec 9 doi: 10.1038/s41575-019-0226-7. PMID: 31819247
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Recent clinical studies

Etiology

Ravichandra A, Schwabe RF
Methods Mol Biol 2021;2299:339-356. doi: 10.1007/978-1-0716-1382-5_23. PMID: 34028753
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Chascsa DMH, Lindor KD
J Gastroenterol 2020 Mar;55(3):261-272. Epub 2020 Jan 22 doi: 10.1007/s00535-020-01664-0. PMID: 31970467Free PMC Article
Dyson JK, Beuers U, Jones DEJ, Lohse AW, Hudson M
Lancet 2018 Jun 23;391(10139):2547-2559. Epub 2018 Feb 13 doi: 10.1016/S0140-6736(18)30300-3. PMID: 29452711
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Diagnosis

Ayoub MD, Kamath BM
Clin Liver Dis 2022 Aug;26(3):355-370. Epub 2022 Jun 25 doi: 10.1016/j.cld.2022.03.002. PMID: 35868679
Schattenberg JM, Pares A, Kowdley KV, Heneghan MA, Caldwell S, Pratt D, Bonder A, Hirschfield GM, Levy C, Vierling J, Jones D, Tailleux A, Staels B, Megnien S, Hanf R, Magrez D, Birman P, Luketic V
J Hepatol 2021 Jun;74(6):1344-1354. Epub 2021 Jan 21 doi: 10.1016/j.jhep.2021.01.013. PMID: 33484775
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Dyson JK, Beuers U, Jones DEJ, Lohse AW, Hudson M
Lancet 2018 Jun 23;391(10139):2547-2559. Epub 2018 Feb 13 doi: 10.1016/S0140-6736(18)30300-3. PMID: 29452711
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Therapy

Hasegawa S, Yoneda M, Kurita Y, Nogami A, Honda Y, Hosono K, Nakajima A
Drugs 2021 Jul;81(10):1181-1192. Epub 2021 Jun 17 doi: 10.1007/s40265-021-01545-7. PMID: 34142342Free PMC Article
Ravichandra A, Schwabe RF
Methods Mol Biol 2021;2299:339-356. doi: 10.1007/978-1-0716-1382-5_23. PMID: 34028753
Gulamhusein AF, Hirschfield GM
Nat Rev Gastroenterol Hepatol 2020 Feb;17(2):93-110. Epub 2019 Dec 9 doi: 10.1038/s41575-019-0226-7. PMID: 31819247
Lleo A, Leung PSC, Hirschfield GM, Gershwin EM
Semin Liver Dis 2020 Feb;40(1):34-48. Epub 2019 Sep 19 doi: 10.1055/s-0039-1697617. PMID: 31537031
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Prognosis

Schneider KM, Candels LS, Hov JR, Myllys M, Hassan R, Schneider CV, Wahlström A, Mohs A, Zühlke S, Liao L, Elfers C, Kilic K, Henricsson M, Molinaro A, Hatting M, Zaza A, Drasdo D, Frissen M, Devlin AS, Gálvez EJC, Strowig T, Karlsen TH, Hengstler JG, Marschall HU, Ghallab A, Trautwein C
Nat Metab 2021 Sep;3(9):1228-1241. Epub 2021 Sep 22 doi: 10.1038/s42255-021-00452-1. PMID: 34552267
Hasegawa S, Yoneda M, Kurita Y, Nogami A, Honda Y, Hosono K, Nakajima A
Drugs 2021 Jul;81(10):1181-1192. Epub 2021 Jun 17 doi: 10.1007/s40265-021-01545-7. PMID: 34142342Free PMC Article
Pan Y, Wang J, He L, Zhang F
J Immunol Res 2021;2021:6890423. Epub 2021 Apr 23 doi: 10.1155/2021/6890423. PMID: 33977112Free PMC Article
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765
Carey EJ, Ali AH, Lindor KD
Lancet 2015 Oct 17;386(10003):1565-75. Epub 2015 Sep 11 doi: 10.1016/S0140-6736(15)00154-3. PMID: 26364546

Clinical prediction guides

Kowdley KV, Bowlus CL, Levy C, Akarca US, Alvares-da-Silva MR, Andreone P, Arrese M, Corpechot C, Francque SM, Heneghan MA, Invernizzi P, Jones D, Kruger FC, Lawitz E, Mayo MJ, Shiffman ML, Swain MG, Valera JM, Vargas V, Vierling JM, Villamil A, Addy C, Dietrich J, Germain JM, Mazain S, Rafailovic D, Taddé B, Miller B, Shu J, Zein CO, Schattenberg JM; ELATIVE Study Investigators’ Group; ELATIVE Study Investigators' Group
N Engl J Med 2024 Feb 29;390(9):795-805. Epub 2023 Nov 13 doi: 10.1056/NEJMoa2306185. PMID: 37962077
Saffioti F, Vieira Motta R, Quaglia A
Curr Opin Gastroenterol 2023 Mar 1;39(2):75-82. Epub 2023 Jan 4 doi: 10.1097/MOG.0000000000000908. PMID: 36821454
Schneider KM, Candels LS, Hov JR, Myllys M, Hassan R, Schneider CV, Wahlström A, Mohs A, Zühlke S, Liao L, Elfers C, Kilic K, Henricsson M, Molinaro A, Hatting M, Zaza A, Drasdo D, Frissen M, Devlin AS, Gálvez EJC, Strowig T, Karlsen TH, Hengstler JG, Marschall HU, Ghallab A, Trautwein C
Nat Metab 2021 Sep;3(9):1228-1241. Epub 2021 Sep 22 doi: 10.1038/s42255-021-00452-1. PMID: 34552267
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Marotta PJ, LaRusso NF, Wiesner RH
Baillieres Clin Gastroenterol 1997 Dec;11(4):781-800. doi: 10.1016/s0950-3528(97)90021-x. PMID: 9512810

Recent systematic reviews

Xue H, Wei M, Ji L
Phytomedicine 2023 Sep;118:154961. Epub 2023 Jul 9 doi: 10.1016/j.phymed.2023.154961. PMID: 37453191
Shah ND, Barritt AS 4th
Clin Ther 2022 May;44(5):682-696. Epub 2022 May 25 doi: 10.1016/j.clinthera.2022.04.012. PMID: 35643886
Liu X, Wang H, Liu X, Bridle K, Crawford D, Liang X
Pharmacol Ther 2022 Sep;237:108163. Epub 2022 Mar 7 doi: 10.1016/j.pharmthera.2022.108163. PMID: 35271884
Kulkarni AV, Tevethia HV, Arab JP, Candia R, Premkumar M, Kumar P, Sharma M, Reddy DN, Padaki NR
Clin Res Hepatol Gastroenterol 2021 May;45(3):101675. Epub 2021 Mar 17 doi: 10.1016/j.clinre.2021.101675. PMID: 33722778
Sánchez-Salgado JC, Estrada-Soto S, García-Jiménez S, Montes S, Gómez-Zamudio J, Villalobos-Molina R
Biomolecules 2019 Mar 14;9(3) doi: 10.3390/biom9030102. PMID: 30875780Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...