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Dubin-Johnson syndrome(DJS)

MedGen UID:
7181
Concept ID:
C0022350
Disease or Syndrome
Synonyms: DJS; Hyperbilirubinemia type 2; HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE; Jaundice, Chronic Idiopathic
SNOMED CT: Sprinz Nelson syndrome (44553005); Hyperbilirubinemia II (44553005); DJS - Dubin-Johnson syndrome (44553005); Dubin-Johnson syndrome (44553005); Black liver-jaundice syndrome (44553005); Chronic idiopathic jaundice with pigmented liver (44553005); Dubin-Sprinz syndrome (44553005); Icterus-hepatic pigmentation syndrome (44553005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ABCC2 (10q24.2)
 
Monarch Initiative: MONDO:0009380
OMIM®: 237500
Orphanet: ORPHA234

Definition

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998). [from OMIM]

Additional description

From MedlinePlus Genetics
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. Jaundice is typically the only feature of Dubin-Johnson syndrome, but some people can experience weakness, mild abdominal pain, nausea, or vomiting. In most people with Dubin-Johnson syndrome, certain deposits build up in the liver but do not seem to impair liver function. The deposits make the liver appear black when viewed with medical imaging.

Rarely, jaundice develops soon after birth in individuals with Dubin-Johnson syndrome. Affected infants typically also have enlarged livers (hepatomegaly) and a severely reduced ability to produce and release a digestive fluid called bile (cholestasis). As these children get older, their liver problems go away and they usually do not have any related health problems later in life.  https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome

Clinical features

From HPO
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Biliary tract abnormality
MedGen UID:
108201
Concept ID:
C0549613
Finding
An abnormality of the biliary tree.
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDubin-Johnson syndrome
Follow this link to review classifications for Dubin-Johnson syndrome in Orphanet.

Professional guidelines

PubMed

Hahn JW, Lee H, Shin M, Seong MW, Moon JS, Ko JS
J Gastroenterol Hepatol 2024 May;39(5):964-974. Epub 2024 Feb 7 doi: 10.1111/jgh.16505. PMID: 38323732
Junge N, Goldschmidt I, Wiegandt J, Leiskau C, Mutschler F, Laue T, Ohlendorf J, Stalke A, Hartleben B, Stindt J, Keitel V, Baumann U, Pfister ED
J Pediatr Gastroenterol Nutr 2021 May 1;72(5):e105-e111. doi: 10.1097/MPG.0000000000003061. PMID: 33534365
Wagner M, Trauner M
Ann Hepatol 2005 Apr-Jun;4(2):77-99. PMID: 16010241

Recent clinical studies

Etiology

Zhang Y, Zuo W, Gao W
Medicine (Baltimore) 2024 Jan 26;103(4):e36991. doi: 10.1097/MD.0000000000036991. PMID: 38277553Free PMC Article
Fu H, Zhao R, Jia X, Li X, Li G, Yin C
Pediatr Res 2022 May;91(6):1571-1578. Epub 2021 May 28 doi: 10.1038/s41390-021-01583-7. PMID: 34050268
Lee JH, Chen HL, Chen HL, Ni YH, Hsu HY, Chang MH
Pediatr Res 2006 Apr;59(4 Pt 1):584-9. doi: 10.1203/01.pdr.0000203093.10908.bb. PMID: 16549534
Keppler D, König J
Semin Liver Dis 2000;20(3):265-72. doi: 10.1055/s-2000-9391. PMID: 11076395
Everson GT
Medscape Womens Health 1998 Mar;3(2):2. PMID: 9732096

Diagnosis

Fu H, Zhao R, Jia X, Li X, Li G, Yin C
Pediatr Res 2022 May;91(6):1571-1578. Epub 2021 May 28 doi: 10.1038/s41390-021-01583-7. PMID: 34050268
Togawa T, Mizuochi T, Sugiura T, Kusano H, Tanikawa K, Sasaki T, Ichinose F, Kagimoto S, Tainaka T, Uchida H, Saitoh S
J Pediatr 2018 May;196:161-167.e1. Epub 2018 Feb 28 doi: 10.1016/j.jpeds.2017.12.058. PMID: 29499989
Memon N, Weinberger BI, Hegyi T, Aleksunes LM
Pediatr Res 2016 Mar;79(3):378-86. Epub 2015 Nov 23 doi: 10.1038/pr.2015.247. PMID: 26595536Free PMC Article
Nisa AU, Ahmad Z
J Coll Physicians Surg Pak 2008 Mar;18(3):188-9. PMID: 18460254
Cichoz-Lach H, Celiński K, Słomka M
Ann Univ Mariae Curie Sklodowska Med 2004;59(1):449-52. PMID: 16146029

Therapy

Alpana M, Daga MK, Aggarwal S, Nidhi A
BMJ Case Rep 2015 Aug 11;2015 doi: 10.1136/bcr-2015-211123. PMID: 26264947Free PMC Article
Kitamura T, Alroy J, Gatmaitan Z, Inoue M, Mikami T, Jansen P, Arias IM
Hepatology 1992 Jun;15(6):1154-9. doi: 10.1002/hep.1840150629. PMID: 1592353
Lindberg MC
J Gen Intern Med 1992 Mar-Apr;7(2):199-209. doi: 10.1007/BF02598014. PMID: 1336797
Utian WH
Obstet Gynecol Annu 1979;8:369-91. PMID: 390456
Seligsohn U, Shani M
Acta Hepatogastroenterol (Stuttg) 1977 Jun;24(3):167-9. PMID: 883465

Prognosis

Zhang Y, Zuo W, Gao W
Medicine (Baltimore) 2024 Jan 26;103(4):e36991. doi: 10.1097/MD.0000000000036991. PMID: 38277553Free PMC Article
Nies AT, Keppler D
Pflugers Arch 2007 Feb;453(5):643-59. Epub 2006 Jul 18 doi: 10.1007/s00424-006-0109-y. PMID: 16847695
Lee JH, Chen HL, Chen HL, Ni YH, Hsu HY, Chang MH
Pediatr Res 2006 Apr;59(4 Pt 1):584-9. doi: 10.1203/01.pdr.0000203093.10908.bb. PMID: 16549534
Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U
J Biol Chem 2001 Oct 5;276(40):36923-30. Epub 2001 Jul 26 doi: 10.1074/jbc.M105047200. PMID: 11477083
Borst P, Kool M, Evers R
Semin Cancer Biol 1997 Jun;8(3):205-13. doi: 10.1006/scbi.1997.0071. PMID: 9441949

Clinical prediction guides

Keppler D
Handb Exp Pharmacol 2011;(201):299-323. doi: 10.1007/978-3-642-14541-4_8. PMID: 21103974
Nies AT, Keppler D
Pflugers Arch 2007 Feb;453(5):643-59. Epub 2006 Jul 18 doi: 10.1007/s00424-006-0109-y. PMID: 16847695
Lee JH, Chen HL, Chen HL, Ni YH, Hsu HY, Chang MH
Pediatr Res 2006 Apr;59(4 Pt 1):584-9. doi: 10.1203/01.pdr.0000203093.10908.bb. PMID: 16549534
Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U
J Biol Chem 2001 Oct 5;276(40):36923-30. Epub 2001 Jul 26 doi: 10.1074/jbc.M105047200. PMID: 11477083
Everson GT
Medscape Womens Health 1998 Mar;3(2):2. PMID: 9732096

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