Details of Disease | DrugMAP

General Information of Disease (ID: DISM8TG9)

Disease Name	Dubin-Johnson syndrome
Synonyms	hyperbilirubinemia 2; conjugated hyperbilirubinemia; hyperbilirubinemia, Dubin-Johnson type; DJS; Dubin Johnson syndrome; Dubin Johnson Syndrome; hyperbilirubinemia type 2; Dubin-Johnson syndrome; Dubin-Sprinz disease; chronic idiopathic jaundice; Sprinz-Nelson syndrome
Definition	Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS788JD: Hereditary hyperbilirubinemia DISM8TG9: Dubin-Johnson syndrome
Disease Identifiers	MONDO ID MONDO_0009380 MESH ID D007566 UMLS CUI C0022350 OMIM ID 237500 MedGen ID 7181 Orphanet ID 234 SNOMED CT ID 44553005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCC2	TTFLHJV	Strong	Genetic Variation	[1]
ABCC3	TTVLG21	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC2	DTFI42L	Strong	Autosomal recessive	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLHL1	OTAX6SAD	Limited	Biomarker	[4]
SYCE1L	OTXU44F3	Limited	Biomarker	[4]
ABCC2	OTJSIGV5	Strong	Autosomal recessive	[3]
RDX	OTNSYUN6	Strong	Biomarker	[5]
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References

1	Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.Liver Int. 2020 Jan;40(1):163-174. doi: 10.1111/liv.14260. Epub 2019 Oct 13.
2	The apical conjugate efflux pump ABCC2 (MRP2).Pflugers Arch. 2007 Feb;453(5):643-59. doi: 10.1007/s00424-006-0109-y. Epub 2006 Jul 18.
3	Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. Pediatr Res. 2006 Apr;59(4 Pt 1):584-9. doi: 10.1203/01.pdr.0000203093.10908.bb.
4	A Time-Dependent Model Describes Methotrexate Elimination and Supports Dynamic Modification of MRP2/ABCC2 Activity.Ther Drug Monit. 2017 Apr;39(2):145-156. doi: 10.1097/FTD.0000000000000381.
5	Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.J Cell Biol. 2004 Aug 16;166(4):559-70. doi: 10.1083/jcb.200402007.