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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).

Recent clinical studies

Etiology

Shneider BL, Kamath BM, Magee JC, Goodrich NP, Loomes KM, Ye W, Spino C, Alonso EM, Molleston JP, Bezerra JA, Wang KS, Karpen SJ, Horslen SP, Guthery SL, Rosenthal P, Squires RH, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).
Hepatol Commun 2022 Aug;6(8):1910-1921. Epub 2022 May 4 doi: 10.1002/hep4.1970. PMID: 35506349Free PMC Article
Shen X, Huang Y, Guo H, Peng H, Yao S, Zhou M, Liu H, Lin HC, Zhou P
Clin Res Hepatol Gastroenterol 2021 Mar;45(2):101495. Epub 2020 Jul 25 doi: 10.1016/j.clinre.2020.06.019. PMID: 32723673
Ziogas IA, Alexopoulos SP, Matsuoka LK, Geevarghese SK, Gorden LD, Karp SJ, Perkins JD, Montenovo MI
Clin Transplant 2020 Oct;34(10):e14031. Epub 2020 Jul 28 doi: 10.1111/ctr.14031. PMID: 33427333
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
Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N, AlAbdulaziz BS, Abdelrahman KA, Altassan N, Alkuraya FS
Clin Genet 2017 Jul;92(1):52-61. Epub 2017 Mar 17 doi: 10.1111/cge.12959. PMID: 28039895

Diagnosis

Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Goldner D, Vittorio J, Barrios DM, McGuire J, Brodlie S, Brown J, Lobritto S, Martinez M
Pediatr Emerg Care 2021 Oct 1;37(10):e636-e639. doi: 10.1097/PEC.0000000000001740. PMID: 30672906
Palmer M, Regev A, Lindor K, Avigan MI, Dimick-Santos L, Treem W, Marcinak JF, Lewis JH, Anania FA, Seekins D, Shneider BL, Chalasani N
Aliment Pharmacol Ther 2020 Jan;51(1):90-109. Epub 2019 Nov 25 doi: 10.1111/apt.15579. PMID: 31762074Free PMC Article
Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V
Rev Esp Enferm Dig 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019. PMID: 31538484
Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El-Kalioby M, Subhani SN, Goljan E, Albar R, Monies D, Mazhar N, AlAbdulaziz BS, Abdelrahman KA, Altassan N, Alkuraya FS
Clin Genet 2017 Jul;92(1):52-61. Epub 2017 Mar 17 doi: 10.1111/cge.12959. PMID: 28039895

Therapy

Thompson MD, Hinrichs H, Faerber A, Tarr PI, Davidson NO
J Lipid Res 2022 May;63(5):100205. Epub 2022 Mar 25 doi: 10.1016/j.jlr.2022.100205. PMID: 35341737Free PMC Article
Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Isaacs-Ten A, Echeandia M, Moreno-Gonzalez M, Brion A, Goldson A, Philo M, Patterson AM, Parker A, Galduroz M, Baker D, Rushbrook SM, Hildebrand F, Beraza N
Hepatology 2020 Dec;72(6):2090-2108. doi: 10.1002/hep.31228. PMID: 32168395Free PMC Article
Sun J, Wang J, Zhang N, Yang R, Chen K, Kong D
Gene 2019 Jul 30;707:9-21. Epub 2019 May 9 doi: 10.1016/j.gene.2019.04.078. PMID: 31048068
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

Prognosis

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
Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V
Rev Esp Enferm Dig 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019. PMID: 31538484
Terziroli Beretta-Piccoli B, Thompson R, Foskett P, Cerny A, Merlo E, Vergani D, Rougemont AL, Moix I, Mieli-Vergani G, Morris M
Hepatology 2019 Oct;70(4):1484-1487. Epub 2019 Jun 26 doi: 10.1002/hep.30783. PMID: 31127640
Sun J, Wang J, Zhang N, Yang R, Chen K, Kong D
Gene 2019 Jul 30;707:9-21. Epub 2019 May 9 doi: 10.1016/j.gene.2019.04.078. PMID: 31048068
Ge T, Zhang X, Xiao Y, Wang Y, Zhang T
BMC Med Genet 2019 Jan 18;20(1):18. doi: 10.1186/s12881-019-0753-7. PMID: 30658709Free PMC Article

Clinical prediction guides

Baumann U, Sturm E, Lacaille F, Gonzalès E, Arnell H, Fischler B, Jørgensen MH, Thompson RJ, Mattsson JP, Ekelund M, Lindström E, Gillberg PG, Torfgård K, Soni PN
Clin Res Hepatol Gastroenterol 2021 Sep;45(5):101751. Epub 2021 Jun 26 doi: 10.1016/j.clinre.2021.101751. PMID: 34182185
Koofy NE, Yassin N, Okasha S, William H, Elakel W, Elshiwy Y
Arab J Gastroenterol 2021 Sep;22(3):199-202. Epub 2021 Jun 3 doi: 10.1016/j.ajg.2021.04.001. PMID: 34090830
Ziogas IA, Alexopoulos SP, Matsuoka LK, Geevarghese SK, Gorden LD, Karp SJ, Perkins JD, Montenovo MI
Clin Transplant 2020 Oct;34(10):e14031. Epub 2020 Jul 28 doi: 10.1111/ctr.14031. PMID: 33427333
Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V
Rev Esp Enferm Dig 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019. PMID: 31538484
Kummen M, Hov JR
Liver Int 2019 Jul;39(7):1186-1196. Epub 2019 Jun 17 doi: 10.1111/liv.14153. PMID: 31125502

Recent systematic reviews

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
Danford CJ, Ezaz G, Trivedi HD, Tapper EB, Bonder A
J Clin Densitom 2020 Apr - Jun;23(2):223-236. Epub 2019 May 10 doi: 10.1016/j.jocd.2019.05.003. PMID: 31146965
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
Jin XY, Khan TM
J Formos Med Assoc 2016 Sep;115(9):689-702. Epub 2016 Jul 16 doi: 10.1016/j.jfma.2016.05.006. PMID: 27431691

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