DJS
MCID: DBN001
MIFTS: 57

Dubin-Johnson Syndrome (DJS) malady

Liver, Metabolic categories

Summaries for Dubin-Johnson Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Dubin-johnson syndrome is a type of hereditary hyperbilirubinemia with a relatively benign course. symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.  the symptoms often do not present until puberty or adulthood. the syndrome interferes with the body's ability to move bilirubin from the liver. in most cases, treatment is not required.  last updated: 12/19/2008

MalaCards: Dubin-Johnson Syndrome, also known as dubin johnson syndrome, is related to n syndrome and hepatitis d, and has symptoms including structural anomalies of the liver and the biliary tract, hepatitis/icterus/cholestasis and abnormal colour of the urine/cholic/dark urines. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP-binding cassette, sub-family C (CFTR/MRP), member 2), and among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Carbamazepine Pathway, Pharmacokinetics. The compounds estradiol-17beta-glucuronide and benzbromarone have been mentioned in the context of this disorder. Affiliated tissues include whole blood, colon and liver, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:8 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.

Genetics Home Reference:21 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, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johnson syndrome, but some people also experience weakness, mild upper abdominal pain, nausea, and/or vomiting.

Description from OMIM:47 237500

Aliases & Classifications for Dubin-Johnson Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver, Metabolic


Characteristics (Orphanet epidemiological data):

49
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

dubin-johnson syndrome 8 9 43 21 47 10 45 49
dubin johnson syndrome 8 20 22
conjugated hyperbilirubinemia 43 61
jaundice, chronic idiopathic 21 61
chronic idiopathic jaundice 8 43
hyperbilirubinemia type 2 43 49
djs 43 21
sprinz-nelson syndrome 49
hyperbilirubinemia ii 21
dubin-sprinz disease 49
hyperbilirubinemia 2 43


External Ids:

Disease Ontology8 DOID:12308
NCIt40 C34741
MeSH35 D007566
OMIM47 237500
SNOMED-CT57 44553005
MESH via Orphanet36 D007566
ICD10 via Orphanet26 E80.6
SNOMED-CT via Orphanet58 44553005
UMLS via Orphanet62 C0022350

Related Diseases for Dubin-Johnson Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Dubin-Johnson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.9
2hepatitis d10.7
3hepatitis c10.6
4micro syndrome10.6
5rotor syndrome10.5
6gilbert syndrome10.5
7viral hepatitis10.4
8congenital dyserythropoietic anemia10.2
9abetalipoproteinemia10.2
10lipid pneumonia10.2
11hepatitis e10.2
12cholecystolithiasis10.2
13systemic lupus erythematosus10.2
14hereditary spherocytosis10.2
15portal vein thrombosis10.2
16choledocholithiasis10.2
17adult syndrome10.2
18cholelithiasis10.2
19hepatitis a10.2
20atherosclerosis10.2
21thalassemia10.2
22dwarfism10.2
23crigler najjar syndrome, type 210.2
24mass syndrome10.2
25familial hemangioma10.2
26hyperbilirubinemia, rotor type, digenic10.2
27biliary atresia10.1
28short bowel syndrome10.1
29neonatal thyrotoxicosis10.1
30thyrotoxicosis10.1
31short syndrome10.1
32microphthalmia10.0
33myeloid leukemia10.0ABCC1
34malignant mesothelioma10.0ABCC2
35pancreatic cancer10.0ABCC3
36cystic fibrosis10.0ABCC2, ABCC1
37leukopenia10.0UGT1A1
38malignant glioma10.0ABCC3, ABCC1
39factor vii deficiency10.0F7
40galactosemia10.0F7
41hepatitis10.0ABCC2, UGT1A1
42extrahepatic cholestasis10.0ABCC3, ABCC1, ABCC2
43intrahepatic cholestasis10.0ABCC1, ABCC2
44kernicterus10.0UGT1A1
45bilirubin metabolic disorder10.0ABCC1, ABCC2, UGT1A1
46colon cancer10.0UGT1A1, ABCC1, ABCC3
47precursor t-cell acute lymphoblastic leukemia10.0ABCC2, ABCC1, ABCC3
48colon adenocarcinoma10.0ABCC3, ABCC1, ABCC2
49pseudoxanthoma elasticum10.0ABCC1, ABCC6, MRPS7
50cholestasis10.0ABCC3, ABCC4, ABCC1, ABCC2

Graphical network of the top 20 diseases related to Dubin-Johnson Syndrome:



Diseases related to dubin-johnson syndrome

Clinical Features for Dubin-Johnson Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

237500

Clinical synopsis from OMIM:

237500

Symptoms:

49 (show all 10)
  • structural anomalies of the liver and the biliary tract
  • hepatitis/icterus/cholestasis
  • abnormal colour of the urine/cholic/dark urines
  • autosomal recessive inheritance
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • acute abdominal pain/colic
  • hepatomegaly/liver enlargement (excluding storage disease)
  • clotting/hemostasis disorders
  • fever/chilling
  • asthenia/fatigue/weakness

Drugs & Therapeutics for Dubin-Johnson Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dubin-Johnson Syndrome

Drug clinical trials:

Search ClinicalTrials for Dubin-Johnson Syndrome

Search NIH Clinical Center for Dubin-Johnson Syndrome

Search CenterWatch for Dubin-Johnson Syndrome

Genetic Tests for Dubin-Johnson Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Dubin-Johnson Syndrome:

id Genetic test Affiliating Genes
1 Dubin-johnson Syndrome20 22 ABCC2

Anatomical Context for Dubin-Johnson Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dubin-Johnson Syndrome:

33
Whole blood, Colon, Liver, Skin

Animal Models for Dubin-Johnson Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1TK1, ABCC3, ABCC4, ABCC1, ABCC6, ABCG4

Publications for Dubin-Johnson Syndrome

Sources:
51PubMed
See all sources

Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. (23429660)
2013
2
Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report. (21948575)
2011
3
Persistent cholestasis following cholecystectomy: a case of Dubin-Johnson syndrome. (20227718)
2010
4
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. (19881259)
2009
5
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. (15565411)
2004
6
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. (15143928)
2004
7
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). (12388192)
2003
8
Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. (14662121)
2003
9
Association of Dubin-Johnson syndrome and portal vein thrombosis. (12118928)
2002
10
A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. (12087194)
2002
11
Hepatobiliary scintigraphy in an exacerbation of Dubin-Johnson syndrome. (11416756)
2001
12
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. (10507830)
1999
13
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. (10464142)
1999
14
Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. (9729708)
1998
15
Neonatal and infantile Dubin-Johnson syndrome. (9799330)
1998
16
Postoperative management following massive hepatectomy in a patient with Dubin-Johnson syndrome: report of a case. (9872548)
1998
17
A case of infantile Dubin-Johnson syndrome with high CT attenuation in the liver. (9094246)
1997
18
A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. (9185779)
1997
19
Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. (8621134)
1996
20
Dubin-Johnson syndrome. (8071555)
1994
21
Defective biliary excretion of epinephrine metabolites in mutant (TR-) rats: relation to the pathogenesis of black liver in the Dubin-Johnson syndrome and Corriedale sheep with an analogous excretory defect. (1592353)
1992
22
Neonatal Dubin-Johnson syndrome with severe cholestasis: effective phenobarbital therapy. (2035335)
1991
23
Dubin-Johnson syndrome presenting with neonatal cholestasis. (2400232)
1990
24
Hepatic computerized tomography in the Dubin-Johnson syndrome: increased liver density as a diagnostic aid. (4064636)
1985
25
Dubin--Johnson syndrome in childhood. (7130726)
1982
26
Bile salt transport in the Dubin-Johnson syndrome. (7439808)
1980
27
Dubin-Johnson syndrome in a neonate. (520367)
1979
28
Bile acid excretion in Dubin-Johnson syndrome. (700338)
1978
29
Dubin-Johnson syndrome: clinical, laboratory and histological aspects of twenty-one cases. (612654)
1977
30
The Dubin Johnson syndrome (report of 9 cases). (1194210)
1975
31
The inheritance of Dubin-Johnson syndrome. (4775129)
1973
32
Porphyrins in Dubin-Johnson syndrome. (4688724)
1973
33
Hepatic handling of unconjugated dyes in the Dubin-Johnson syndrome. (4683844)
1973
34
Dubin-Johnson Syndrome. Abnormal excretion of the isomers of urinary coproporphyrin by clinically unaffected family members. (4775130)
1973
35
A case of Dubin-Johnson syndrome with dwarfism in a Ceylonese child. (4781980)
1973
36
Metabolism of the bromsulphalein in Dubin-Johnson syndrome. Diagnostic value of the paradoxical increase in plasma levels at BSP. (5030747)
1972
37
Dubin-Johnson syndrome: report of a case. (4637289)
1972
38
Dubin-Johnson syndrome. (5422568)
1970
39
Unconjugated bilirubin transport in normal and mutant Corriedale sheep with Dubin-Johnson syndrome. (4920172)
1970
40
Dubin-Johnson syndrome: a family study. (4249489)
1970
41
Dubin-Johnson syndrome. (5397494)
1969
42
3 cases of Dubin-Johnson syndrome occurring in familiies]. (5391078)
1969
43
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. (5926936)
1966
44
Chronic idiopathic jaundice (Dubin--Johnson syndrome): (report of a case with a long follow-up). (5826676)
1965
45
DUBIN-JOHNSON SYNDROME WITH EXTRAHEPATIC PIGMENTATION IN A NEUROFIBROMA. REPORT OF A CASE. (14333143)
1965
46
DUBIN-JOHNSON SYNDROME AND IDIOPATHIC THROMBOCYTOPENIC PURPURA IN ONE PATIENT. (14272504)
1965
47
The Dubin-Johnson syndrome in a Timorese. A case report from the Queen Elizabeth Hospital, Jesselton, Sabah. (4378693)
1965
48
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). I. Demonstration of hepatic excretory defect. (13992285)
1963
49
The Dubin-Johnson syndrome or chronic idiopathic jaundice; report of a case. (13546234)
1958
50
Chronic idiopathic jaundice (Dubin-Johnson syndrome). (13565867)
1958

Genetic Variations for Dubin-Johnson Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Dubin-Johnson Syndrome:

63
id Symbol AA change Variation SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756
3ABCC2p.Arg1150HisVAR_013327
4ABCC2p.Ile1173PheVAR_013328

Expression for genes affiliated with Dubin-Johnson Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dubin-Johnson Syndrome

Search GEO for disease gene expression data for Dubin-Johnson Syndrome.

Pathways for genes affiliated with Dubin-Johnson Syndrome

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore
See all sources

Pathways related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0ABCC2, ABCC1
2
Hide members
10.0ABCC2, UGT1A1
3
Hide members
9.9UROS, UGT1A1
4
Hide members
9.8ABCC2, ABCC1, ABCC3
5
Hide members
9.7ABCC3, ABCC2, UGT1A1
6
Hide members
9.7UGT1A1, ABCC2, ABCC1
79.7ABCC1, UGT1A1, ABCC3
89.7ABCC3, ABCC4, ABCC2
99.7ABCC2, ABCC4, ABCC3
10
Hide members
9.6ABCC4, UGT1A1, ABCC2
119.4ABCC2, ABCC1, ABCC4, ABCC3
12
Hide members
9.4ABCC3, ABCC2, ABCC1, ABCC4
13
Acetaminophen metabolism
Hide members
9.1UGT1A1, ABCC4, ABCC1, ABCC5
148.8ABCC5, ABCC4, TK1
15
Hide members
8.5ABCC5, ABCC4, TK1, ABCC3
16
Hide members
7.6ABCC5, ABCG4, ABCC3, ABCC4, ABCC1, ABCC6
17
Hide members
7.3ABCC6, ABCC1, ABCC2, ABCC5, ABCG4, ABCC11

Compounds for genes affiliated with Dubin-Johnson Syndrome

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1estradiol-17beta-glucuronide4510.1ABCC2, ABCC1, ABCC3
2benzbromarone4510.1ABCC1, ABCC2, ABCC6
3glycocholate4510.1ABCC3, ABCC1, ABCC2
4Gadoxetate 1110.1ABCC4, ABCC3, ABCC2
5cyclosporine50 1110.9ABCC3, ABCC1, ABCC2
6glucuronide459.9ABCC2, ABCC1, ABCC3, UGT1A1
7s-(2,4-dinitrophenyl)glutathione459.9ABCC2, ABCC5, ABCC1
8saquinavir45 1110.9ABCC3, ABCC1, UGT1A1, ABCC2
9teniposide45 1110.9ABCC3, ABCC1, ABCC6
10Glyburide119.9ABCC2, ABCC1, ABCC3
11lamivudine45 1110.8ABCC4, ABCC3, ABCC1, ABCC2
12rifampicin45 29 6011.8UGT1A1, ABCC3, ABCC1, ABCC2
13gamma-glutamylcysteine45 11 2411.8ABCC3, ABCC4, ABCC1, ABCC2
14taurocholate459.8ABCC2, ABCC1, ABCC4, ABCC3
15cholic acid45 29 11 2412.7ABCC1, ABCC4, ABCC2, ABCC3
16androstane459.7ABCC2, UGT1A1, ABCC3, ABCC4
17folic acid50 11 2411.7ABCC11, ABCC4, ABCC3
18leucovorin45 50 1111.7ABCC2, ABCC3, UGT1A1, ABCC4
19phenobarbital45 29 1111.7ABCC1, ABCC2, UGT1A1, ABCC3
20daunorubicin45 50 1111.7ABCC2, ABCC1, ABCC3, ABCC6
21ritonavir45 50 1111.7ABCC1, ABCC4, UGT1A1, ABCC2
22diclofenac45 29 50 1112.7ABCC4, UGT1A1, ABCC1, ABCC2
23irinotecan45 50 1111.6UGT1A1, ABCC2, ABCC4, ABCC1
24Cyclic Adenosine Monophosphate119.6ABCC5, ABCC4, ABCC11
25indinavir45 50 1111.6UGT1A1, ABCC2, ABCC5, ABCC1
26vinblastine45 50 1111.6ABCC4, ABCC6, ABCC1, ABCC2
27conjugated estrogens50 1110.5ABCC4, ABCC11, ABCC2, ABCC1, ABCC3
28Taurocholic Acid11 2410.5ABCC2, ABCC11, ABCC1, ABCC4, ABCC3
29rifampin50 1110.4ABCC1, UGT1A1, ABCC2, ABCC5, ABCC3
30verapamil45 50 29 11 2413.4ABCC3, ABCC1, ABCC2, ABCC4
316 mercaptopurine459.4ABCC5, ABCC4, UGT1A1
32Glutathione11 2410.3ABCC1, ABCC2, ABCC5, ABCC4, ABCC3
33vincristine45 50 1111.3ABCC1, ABCC4, ABCC3, ABCC2
34adefovir459.2ABCC2, ABCC5, ABCC11, ABCC1, ABCC4
35glucuronic acid459.2ABCC3, UGT1A1, ABCC2, ABCC6, ABCC1, ABCC4
36atorvastatin45 50 29 11 2413.2ABCC4, ABCC1, ABCC5, ABCC2, UGT1A1
37folate459.2ABCC1, ABCC4, ABCC2, ABCC3, ABCC5
38etoposide45 50 60 1112.2ABCC2, UGT1A1, ABCC3, ABCC4, ABCC1, ABCC6
39sulfinpyrazone45 1110.0ABCC1, ABCC3, ABCC2, ABCC5, ABCC4, ABCC6
40mk 57145 6010.0ABCC5, ABCC2, ABCC6, ABCC1, ABCC4, ABCC3
415fluorouracil458.9ABCC2, UGT1A1, ABCC11, ABCC5, ABCC1, ABCC4
42doxorubicin45 50 1110.9ABCC6, ABCC5, ABCC1, ABCC2, ABCC3, ABCC4
43indomethacin45 60 29 1111.9ABCC6, ABCC2, UGT1A1, ABCC1, ABCC4, ABCC3
44zidovudine45 119.7TK1, ABCC5, ABCC2, ABCC1, ABCC4
45nucleoside458.7ABCC5, ABCC4, ABCC3, TK1, ABCC2
46cisplatin45 50 60 1111.7ABCC3, ABCC4, ABCC5, ABCC1, ABCC6, ABCC2
47probenecid45 29 60 50 1112.7ABCC1, ABCC3, ABCC4, ABCC2, ABCC5, ABCC11
48methotrexate45 50 1110.7ABCC2, ABCC5, ABCC1, ABCC4, ABCC3, ABCC6
49thymidylate458.3TK1, ABCC5, ABCC1, UGT1A1
50atp45 298.7ABCC2, ABCC5, ABCC6, ABCC3, ABCC1, ABCC4

GO Terms for genes affiliated with Dubin-Johnson Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3ABCC3, ABCC4, ABCC1, ABCC6, ABCC11, ABCG4

Biological processes related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound metabolic processGO:0067789.6UGT1A1, UROS
2transportGO:0068108.8ABCC2, ABCC5, ABCC6, ABCC1, ABCC3
3small molecule metabolic processGO:0442818.1UGT1A1, ABCC5, ABCC1, ABCC3, TK1, UROS
4transmembrane transportGO:0550857.6ABCC3, ABCC2, ABCC5, ABCG4, ABCC11, ABCC6

Molecular functions related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:0085149.5ABCC3, ABCC5, ABCC2
2ATPase activity, coupled to transmembrane movement of substancesGO:0426267.8ABCC3, ABCC2, ABCC5, ABCC11, ABCC12, ABCC6
3ATP bindingGO:0055246.2ABCC2, ABCC5, ABCG4, ABCC11, ABCC12, ABCC6

Products for genes affiliated with Dubin-Johnson Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dubin-Johnson Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet