DJS
MCID: DBN001
MIFTS: 64

Dubin-Johnson Syndrome (DJS) malady

Liver diseases, Metabolic diseases categories

Summaries for Dubin-Johnson Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hepatitis and cholestasis, and has symptoms including abnormal colour of the urine/cholic/dark urines, clotting/hemostasis disorders and epigastralgia/heartburn/gastric/duodenal ulcer/gastritis. 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 liver, skin and eye, 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:46 237500

Aliases & Classifications for Dubin-Johnson Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

dubin-johnson syndrome 8 9 42 21 46 10 44 48
dubin johnson syndrome 8 20 22
conjugated hyperbilirubinemia 42 60
jaundice, chronic idiopathic 21 60
chronic idiopathic jaundice 8 42
hyperbilirubinemia type 2 42 48
djs 42 21
sprinz-nelson syndrome 48
hyperbilirubinemia ii 21
dubin-sprinz disease 48
hyperbilirubinemia 2 42


External Ids:

Disease Ontology8 DOID:12308
NCIt39 C34741
MeSH34 D007566
OMIM46 237500
SNOMED-CT56 44553005
MESH via Orphanet35 D007566
ICD10 via Orphanet26 E80.6
SNOMED-CT via Orphanet57 44553005
UMLS via Orphanet61 C0022350

Related Diseases for Dubin-Johnson Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dubin-Johnson Syndrome:



Diseases related to dubin-johnson syndrome

Clinical Features for Dubin-Johnson Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

237500

Clinical synopsis from OMIM:

237500

Symptoms:

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

Drugs & Therapeutics for Dubin-Johnson Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Dubin-Johnson Syndrome:

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

Anatomical Context for Dubin-Johnson Syndrome

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32MalaCards
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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

32
Liver, Skin, Eye, Testes, Colon

Animal Models for Dubin-Johnson Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1TK1, ABCC3, ABCC4, ABCC1, ABCC6, ABCG4

Publications for Dubin-Johnson Syndrome

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50PubMed
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Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 177)
idTitleAuthorsYear
1
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome. (23045960)
2013
2
Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. (23708305)
2013
3
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. (21044052)
2010
4
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). (20955959)
2010
5
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. (17183837)
2006
6
Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids. (16952291)
2006
7
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. (15777714)
2005
8
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. (15565411)
2004
9
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. (15143928)
2004
10
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). (12388192)
2003
11
Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. (12012642)
2002
12
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. (11477083)
2001
13
Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome. (11029086)
2000
14
Incipient perisinusoidal fibrosis in an adult patient with Dubin-Johnson syndrome. (10979180)
2000
15
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. (9878557)
1998
16
Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. (9729708)
1998
17
Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. (9425227)
1998
18
Postoperative management following massive hepatectomy in a patient with Dubin-Johnson syndrome: report of a case. (9872548)
1998
19
A case of infantile Dubin-Johnson syndrome with high CT attenuation in the liver. (9094246)
1997
20
Neonatal Dubin-Johnson syndrome. (8014778)
1994
21
Neonatal Dubin-Johnson syndrome with severe cholestasis: effective phenobarbital therapy. (2035335)
1991
22
Diagnosis of Dubin-Johnson syndrome. (3411417)
1988
23
Dubin-Johnson syndrome: report of two siblings with Tc-99 m IODIDA cholescintigraphic findings. (3221151)
1988
24
Hepatic computerized tomography in the Dubin-Johnson syndrome: increased liver density as a diagnostic aid. (4064636)
1985
25
Infantile hepatic cholestasis with maternal Dubin-Johnson syndrome. (6484704)
1984
26
Cholelithiasis in Dubin-Johnson syndrome. (6635916)
1983
27
Dubin--Johnson syndrome in childhood. (7130726)
1982
28
Mitochondrial pathology in the liver in a patient with the Dubin-Johnson syndrome. (598998)
1977
29
Incidence of benign conjugated hyperbilirubinemia with pigment in the liver in Spis (Dubin-Johnson syndrome) II. Attempts at screening of carrier state by means of BSP test]. (1204005)
1975
30
Dubin-Johnson syndrome (report of 5 cases). (1232054)
1975
31
Effect of phenobarbital on liver functions in patients with Dubin-Johnson syndrome. (4847710)
1974
32
The inheritance of Dubin-Johnson syndrome. (4775129)
1973
33
Dubin-Johnson Syndrome. Abnormal excretion of the isomers of urinary coproporphyrin by clinically unaffected family members. (4775130)
1973
34
Dubin-Johnson syndrome: report of a case. (4637289)
1972
35
The Dubin-Johnson syndrome: electron microscopic observation of hepatic pigment--a case study. (4111811)
1972
36
Ultrastructural data in a case of Dubin-Johnson syndrome. (4260202)
1971
37
Dubin-Johnson syndrome with varied manifestations. Report of two cases. (5113130)
1971
38
Dubin-Johnson syndrome: a family study. (4249489)
1970
39
Dubin-Johnson syndrome. (5397494)
1969
40
3 cases of Dubin-Johnson syndrome occurring in familiies]. (5391078)
1969
41
Hereditary deficiency of blood clotting factor VII and Dubin-Johnson syndrome in an Israeli family. (5369704)
1969
42
Two cases of Dubin-Johnson syndrome. (5655063)
1968
43
The Dubin-Johnson syndrome in a Timorese. A case report from the Queen Elizabeth Hospital, Jesselton, Sabah. (4378693)
1965
44
HEPATITIS WITH RESULTING MOBILIZATION OF HEPATIC PIGMENT IN A PATIENT WITH DUBIN-JOHNSON SYNDROME. (14234683)
1964
45
A CASE OF CONGENITAL HYPERBILIRUBINAEMIA (DUBIN-JOHNSON SYNDROME) IN PAKISTAN. (14157719)
1964
46
A CASE OF DUBIN-JOHNSON SYNDROME IN A NORTH AMERICAN CREE INDIAN WITH SUGGESTIVE EVIDENCE OF FAMILIAL OCCURRENCE. (14120241)
1964
47
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). I. Demonstration of hepatic excretory defect. (13992285)
1963
48
FAMILIAL OCCURRENCE OF THE DUBIN-JOHNSON SYNDROME. (14046577)
1963
49
Chronic idiopathic jaundice with hepatic pigmentation (Dubin-Johnson syndrome). (13695356)
1961
50
A case of the Dubin-Johnson syndrome. (13835225)
1959

Genetic Variations for Dubin-Johnson Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Dubin-Johnson Syndrome:

62
id Symbol AA change Variation ID SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756
3ABCC2p.Arg1150HisVAR_013327
4ABCC2p.Ile1173PheVAR_013328

Expression for genes affiliated with Dubin-Johnson Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore
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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

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1estradiol-17beta-glucuronide4410.1ABCC2, ABCC1, ABCC3
2benzbromarone4410.1ABCC1, ABCC2, ABCC6
3glycocholate4410.1ABCC3, ABCC1, ABCC2
4Gadoxetate 1110.1ABCC4, ABCC3, ABCC2
5cyclosporine49 1110.9ABCC3, ABCC1, ABCC2
6glucuronide449.9ABCC2, ABCC1, ABCC3, UGT1A1
7s-(2,4-dinitrophenyl)glutathione449.9ABCC2, ABCC5, ABCC1
8saquinavir44 1110.9ABCC3, ABCC1, UGT1A1, ABCC2
9teniposide44 1110.9ABCC3, ABCC1, ABCC6
10Glyburide119.9ABCC2, ABCC1, ABCC3
11lamivudine44 1110.8ABCC4, ABCC3, ABCC1, ABCC2
12rifampicin44 28 5911.8UGT1A1, ABCC3, ABCC1, ABCC2
13gamma-glutamylcysteine44 11 2411.8ABCC3, ABCC4, ABCC1, ABCC2
14taurocholate449.8ABCC2, ABCC1, ABCC4, ABCC3
15cholic acid44 28 11 2412.7ABCC1, ABCC4, ABCC2, ABCC3
16androstane449.7ABCC2, UGT1A1, ABCC3, ABCC4
17folic acid49 11 2411.7ABCC11, ABCC4, ABCC3
18leucovorin44 49 1111.7ABCC2, ABCC3, UGT1A1, ABCC4
19phenobarbital44 28 1111.7ABCC1, ABCC2, UGT1A1, ABCC3
20daunorubicin44 49 1111.7ABCC2, ABCC1, ABCC3, ABCC6
21ritonavir44 49 1111.7ABCC1, ABCC4, UGT1A1, ABCC2
22diclofenac44 28 49 1112.7ABCC4, UGT1A1, ABCC1, ABCC2
23irinotecan44 49 1111.6UGT1A1, ABCC2, ABCC4, ABCC1
24Cyclic Adenosine Monophosphate119.6ABCC5, ABCC4, ABCC11
25indinavir44 49 1111.6UGT1A1, ABCC2, ABCC5, ABCC1
26vinblastine44 49 1111.6ABCC4, ABCC6, ABCC1, ABCC2
27conjugated estrogens49 1110.5ABCC4, ABCC11, ABCC2, ABCC1, ABCC3
28Taurocholic Acid11 2410.5ABCC2, ABCC11, ABCC1, ABCC4, ABCC3
29rifampin49 1110.4ABCC1, UGT1A1, ABCC2, ABCC5, ABCC3
30verapamil44 49 28 11 2413.4ABCC3, ABCC1, ABCC2, ABCC4
316 mercaptopurine449.4ABCC5, ABCC4, UGT1A1
32Glutathione11 2410.3ABCC1, ABCC2, ABCC5, ABCC4, ABCC3
33vincristine44 49 1111.3ABCC1, ABCC4, ABCC3, ABCC2
34adefovir449.2ABCC2, ABCC5, ABCC11, ABCC1, ABCC4
35glucuronic acid449.2ABCC3, UGT1A1, ABCC2, ABCC6, ABCC1, ABCC4
36atorvastatin44 49 28 11 2413.2ABCC4, ABCC1, ABCC5, ABCC2, UGT1A1
37folate449.2ABCC1, ABCC4, ABCC2, ABCC3, ABCC5
38etoposide44 49 59 1112.2ABCC2, UGT1A1, ABCC3, ABCC4, ABCC1, ABCC6
39sulfinpyrazone44 1110.0ABCC1, ABCC3, ABCC2, ABCC5, ABCC4, ABCC6
40mk 57144 5910.0ABCC5, ABCC2, ABCC6, ABCC1, ABCC4, ABCC3
415fluorouracil448.9ABCC2, UGT1A1, ABCC11, ABCC5, ABCC1, ABCC4
42doxorubicin44 49 1110.9ABCC6, ABCC5, ABCC1, ABCC2, ABCC3, ABCC4
43indomethacin44 59 28 1111.9ABCC6, ABCC2, UGT1A1, ABCC1, ABCC4, ABCC3
44zidovudine44 119.7TK1, ABCC5, ABCC2, ABCC1, ABCC4
45nucleoside448.7ABCC5, ABCC4, ABCC3, TK1, ABCC2
46cisplatin44 49 59 1111.7ABCC3, ABCC4, ABCC5, ABCC1, ABCC6, ABCC2
47probenecid44 28 59 49 1112.7ABCC1, ABCC3, ABCC4, ABCC2, ABCC5, ABCC11
48methotrexate44 49 1110.7ABCC2, ABCC5, ABCC1, ABCC4, ABCC3, ABCC6
49thymidylate448.3TK1, ABCC5, ABCC1, UGT1A1
50atp44 288.7ABCC2, ABCC5, ABCC6, ABCC3, ABCC1, ABCC4

GO Terms for genes affiliated with Dubin-Johnson Syndrome

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16Gene Ontology
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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:0068108.8ABCC5, ABCC6, ABCC1, ABCC3, ABCC2
3small molecule metabolic processGO:0442818.1UROS, UGT1A1, ABCC1, ABCC3, TK1, ABCC5
4transmembrane transportGO:0550857.6ABCC2, ABCC4, ABCC1, ABCC6, ABCC11, ABCG4

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

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  • Antibodies
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Sources for Dubin-Johnson Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet