U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Intrahepatic cholestasis with episodic jaundice

MedGen UID:
870571
Concept ID:
C4025019
Disease or Syndrome
HPO: HP:0006575

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Intrahepatic cholestasis with episodic jaundice

Conditions with this feature

Progressive familial intrahepatic cholestasis type 1
MedGen UID:
1645830
Concept ID:
C4551898
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Benign recurrent intrahepatic cholestasis type 1
MedGen UID:
1637492
Concept ID:
C4551899
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.

Professional guidelines

PubMed

Soulez G, Gagner M, Thérasse E, Deslandres E, Pomp A, Leduc R, Bernard EJ, Prosmanne O, Robillard P
Radiology 1994 Jul;192(1):241-6. doi: 10.1148/radiology.192.1.7516084. PMID: 7516084

Recent clinical studies

Etiology

Helgadottir H, Folvik G, Vesterhus M
Scand J Gastroenterol 2023 May;58(5):512-520. Epub 2022 Nov 11 doi: 10.1080/00365521.2022.2143725. PMID: 36369734
Sticova E, Jirsa M, Pawłowska J
Can J Gastroenterol Hepatol 2018;2018:2313675. Epub 2018 Jul 26 doi: 10.1155/2018/2313675. PMID: 30148122Free PMC Article
Jain R, Suri V, Chopra S, Chawla YK, Kohli KK
J Obstet Gynaecol Res 2013 May;39(5):953-9. Epub 2013 Mar 17 doi: 10.1111/jog.12005. PMID: 23496277
Erlinger S
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S36-40. doi: 10.1016/S2210-7401(12)70019-0. PMID: 23141892
Folvik G, Hilde O, Helge GO
Scand J Gastroenterol 2012 Apr;47(4):482-8. Epub 2012 Jan 10 doi: 10.3109/00365521.2011.650191. PMID: 22229830

Diagnosis

Helgadottir H, Folvik G, Vesterhus M
Scand J Gastroenterol 2023 May;58(5):512-520. Epub 2022 Nov 11 doi: 10.1080/00365521.2022.2143725. PMID: 36369734
Jain R, Suri V, Chopra S, Chawla YK, Kohli KK
J Obstet Gynaecol Res 2013 May;39(5):953-9. Epub 2013 Mar 17 doi: 10.1111/jog.12005. PMID: 23496277
Erlinger S
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S36-40. doi: 10.1016/S2210-7401(12)70019-0. PMID: 23141892
Paulusma CC, Elferink RP, Jansen PL
Semin Liver Dis 2010 May;30(2):117-24. Epub 2010 Apr 26 doi: 10.1055/s-0030-1253221. PMID: 20422494
Luketic VA, Shiffman ML
Clin Liver Dis 1999 Aug;3(3):509-28, viii. doi: 10.1016/s1089-3261(05)70083-0. PMID: 11291237

Therapy

Helgadottir H, Folvik G, Vesterhus M
Scand J Gastroenterol 2023 May;58(5):512-520. Epub 2022 Nov 11 doi: 10.1080/00365521.2022.2143725. PMID: 36369734
Jain R, Suri V, Chopra S, Chawla YK, Kohli KK
J Obstet Gynaecol Res 2013 May;39(5):953-9. Epub 2013 Mar 17 doi: 10.1111/jog.12005. PMID: 23496277
Erlinger S
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S36-40. doi: 10.1016/S2210-7401(12)70019-0. PMID: 23141892
Folvik G, Hilde O, Helge GO
Scand J Gastroenterol 2012 Apr;47(4):482-8. Epub 2012 Jan 10 doi: 10.3109/00365521.2011.650191. PMID: 22229830
Ermis F, Oncu K, Ozel M, Yazgan Y, Gurbuz AK, Demirturk L, Demirci H, Akyol T, Hahoglu A
Ann Hepatol 2010 Apr-Jun;9(2):207-10. PMID: 20526019

Prognosis

Helgadottir H, Folvik G, Vesterhus M
Scand J Gastroenterol 2023 May;58(5):512-520. Epub 2022 Nov 11 doi: 10.1080/00365521.2022.2143725. PMID: 36369734
Folvik G, Hilde O, Helge GO
Scand J Gastroenterol 2012 Apr;47(4):482-8. Epub 2012 Jan 10 doi: 10.3109/00365521.2011.650191. PMID: 22229830
Rohde L, Da Costa MS, Wendt LR, Corleta O, Ferreira M
HPB Surg 1997;10(4):221-7. doi: 10.1155/1997/84803. PMID: 9184875Free PMC Article
Liu CJ, Kao JH, Chen PJ, Lai MY, Mao TL, Wang TH, Chen DS
J Formos Med Assoc 1997 May;96(5):370-3. PMID: 9170826
Guthrie CM, Banting SW, Garden OJ, Carter DC
Br J Surg 1994 Nov;81(11):1639-41. doi: 10.1002/bjs.1800811125. PMID: 7530149

Clinical prediction guides

Yeap SP, Harley H, Thompson R, Williamson KD, Bate J, Sethna F, Farrell G, Hague WB
J Gastroenterol Hepatol 2019 Feb;34(2):425-435. Epub 2018 Aug 6 doi: 10.1111/jgh.14376. PMID: 29992621
Khan I, Qureshi MA, Karim F, Shaukat M
J Pak Med Assoc 2018 Jun;68(6):953-955. PMID: 30323368
Radha Rama Devi A, Naushad SM
Gene 2018 Aug 20;668:190-195. Epub 2018 May 19 doi: 10.1016/j.gene.2018.05.076. PMID: 29787821
Jain R, Suri V, Chopra S, Chawla YK, Kohli KK
J Obstet Gynaecol Res 2013 May;39(5):953-9. Epub 2013 Mar 17 doi: 10.1111/jog.12005. PMID: 23496277
Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH
Hepatology 1999 Feb;29(2):506-8. doi: 10.1002/hep.510290214. PMID: 9918928

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...