MCID: DBN001
MIFTS: 52

Dubin-Johnson Syndrome malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Dubin-Johnson Syndrome

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 25GTR, 66UMLS, 37MeSH, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 50 11 46 23 24 13 52 68 12 48
Conjugated Hyperbilirubinemia 46 25 66
Jaundice, Chronic Idiopathic 24 37 66
Djs 46 24 68
Chronic Idiopathic Jaundice 11 46
Hyperbilirubinemia Type 2 46 52
 
Dubin Johnson Syndrome 11 25
Hyperbilirubinemia Type Ii 23
Sprinz-Nelson Syndrome 52
Hyperbilirubinemia Ii 24
Dubin-Sprinz Disease 52
Hyperbilirubinemia 2 46

Characteristics:

Orphanet epidemiological data:

52
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

62
dubin-johnson syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 237500
Disease Ontology11 DOID:12308
ICD1028 E80.6
MeSH37 D007566
NCIt43 C34741
SNOMED-CT60 44553005
Orphanet52 ORPHA234
ICD10 via Orphanet29 E80.6
MESH via Orphanet38 D007566
UMLS via Orphanet67 C0022350
MedGen35 C0022350

Summaries for Dubin-Johnson Syndrome

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NIH Rare Diseases:46 Dubin-johnson syndrome (djs) is an inherited disorder of bilirubin characterized by a by a buildup of bilirubin in the bloodstream (hyperbilirubinemia). when bilirubin builds up in the skin and the whites of the eyes, it can cause a yellowish color to the skin (jaundice). individuals with djs may also have a liver that is sometimes enlarged and tender. the symptoms often do not present until puberty or adulthood. factors that may worsen symptoms include: alcohol use, birth control bills, infection, and pregnancy. in most cases, treatment is not required.  last updated: 6/17/2016

MalaCards based summary: Dubin-Johnson Syndrome, also known as conjugated hyperbilirubinemia, is related to hepatitis and cholestasis, and has symptoms including abnormality of urine homeostasis, abnormality of the gastric mucosa and abnormality of coagulation. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include liver, skin and eye.

Disease Ontology:11 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:24 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.

OMIM:50 Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase... (237500) more...

UniProtKB/Swiss-Prot:68 Dubin-Johnson syndrome: 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.

Related Diseases for Dubin-Johnson Syndrome

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



Diseases related to dubin-johnson syndrome

Symptoms for Dubin-Johnson Syndrome

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Symptoms by clinical synopsis from OMIM:

237500

Clinical features from OMIM:

237500

Symptoms:

 52 (show all 11)
  • jaundice
  • biliary tract abnormality
  • abnormality of the liver
  • abnormality of coagulation
  • fever
  • abdominal pain
  • hepatomegaly
  • conjugated hyperbilirubinemia
  • abnormality of the gastric mucosa
  • abnormal urinary color
  • fatigue

HPO human phenotypes related to Dubin-Johnson Syndrome:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of urine homeostasis hallmark (90%) HP:0003110
2 abnormality of the gastric mucosa typical (50%) HP:0004295
3 abnormality of coagulation occasional (7.5%) HP:0001928
4 abdominal pain occasional (7.5%) HP:0002027
5 hepatomegaly occasional (7.5%) HP:0002240
6 abnormality of temperature regulation occasional (7.5%) HP:0004370
7 jaundice HP:0000952
8 biliary tract abnormality HP:0001080
9 conjugated hyperbilirubinemia HP:0002908

UMLS symptoms related to Dubin-Johnson Syndrome:


jaundice (not of newborn)

Drugs & Therapeutics for Dubin-Johnson Syndrome

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Drugs for Dubin-Johnson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
bilirubin107635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin

Interventional clinical trials:

idNameStatusNCT IDPhase
1Conjugated Hyperbilirubinemia and Pulse OximetryTerminatedNCT00741117

Search NIH Clinical Center for Dubin-Johnson Syndrome


Cochrane evidence based reviews: jaundice, chronic idiopathic

Genetic Tests for Dubin-Johnson Syndrome

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Genetic tests related to Dubin-Johnson Syndrome:

id Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome25 23 ABCC2
2 Conjugated Hyperbilirubinemia25

Anatomical Context for Dubin-Johnson Syndrome

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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

34
Liver, Skin, Eye, Testes, Colon

Animal Models for Dubin-Johnson Syndrome or affiliated genes

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Publications for Dubin-Johnson Syndrome

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Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome. (27406372)
2016
2
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome. (26264947)
2015
3
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. (23429660)
2013
4
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. (21044052)
2010
5
Dubin-Johnson syndrome. (18460254)
2008
6
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. (17183837)
2006
7
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
8
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. (15565411)
2004
9
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. (15519272)
2004
10
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). (12388192)
2003
11
Association of Dubin-Johnson syndrome and portal vein thrombosis. (12118928)
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
Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. (9729708)
1998
14
Defective hepatobiliary leukotriene elimination in patients with the Dubin-Johnson syndrome. (8737590)
1996
15
Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. (8621134)
1996
16
Neonatal cholestasis in two siblings: a variant of Dubin-Johnson syndrome? (8924312)
1995
17
Dubin-Johnson syndrome. (8071555)
1994
18
Neonatal Dubin-Johnson syndrome. (7815253)
1994
19
A new diagnostic approach to the Dubin-Johnson syndrome. (2296972)
1990
20
Hepatobiliary function studies on Dubin-Johnson syndrome using 99mTc-pyridoxyl-methyl-tryptophan (PMT). (3393702)
1988
21
Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin. (2853343)
1987
22
Cholelithiasis in Dubin-Johnson syndrome. (6635916)
1983
23
Abnormality of oral ursodeoxycholic acid tolerance test in the Dubin-Johnson syndrome. (7237821)
1981
24
Dubin-Johnson syndrome in a neonate. (520367)
1979
25
Dubin-Johnson Syndrome: Report of two cases in a family. (739199)
1978
26
Dubin-Johnson syndrome (Dubin-Johnson-Sprinze disease). (1018126)
1976
27
Letter: Dubin-johnson syndrome. (1175877)
1975
28
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
29
Dubin-Johnson syndrome (report of 5 cases). (1232054)
1975
30
Letter: Dubin-Johnson syndrome in a neonate. (1117948)
1975
31
Effect of phenobarbital on liver functions in patients with Dubin-Johnson syndrome. (4847710)
1974
32
Letter: Dye disappearance in the Dubin-Johnson syndrome. (4809492)
1974
33
The inheritance of Dubin-Johnson syndrome. (4775129)
1973
34
Pregnancy, oral contraceptives, and chronic familial jaundice with predominantly conjugated hyperbilirubinemia (Dubin-Johnson syndrome). (5050316)
1972
35
Abnormal excretion of the isomers of urinary coproporphyrin by patients with Dubin-Johnson syndrome in Israel. (5539298)
1971
36
Intravenous cholecystography and metabolism of meglumine iodipamide (Biligrafin) in Dubin-Johnson syndrome. (5548689)
1971
37
A case of the Dubin-Johnson syndrome complicated by acute hepatitis. (5485831)
1970
38
Acute renal failure complicating intravenous cholangiography in a patient with Dubin-Johnson syndrome. (5821157)
1969
39
Dubin-Johnson syndrome in immature sheep. (5749221)
1968
40
Studies of hepatic excretory function. IV. Biliary excretion of sulfobromophthalein sodium in a patient with the Dubin-Johnson syndrome and a biliary fistula. (5661129)
1968
41
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. (5926936)
1966
42
Chronic idiopathic jaundice (Dubin--Johnson syndrome): (report of a case with a long follow-up). (5826676)
1965
43
DUBIN-JOHNSON SYNDROME WITH EXTRAHEPATIC PIGMENTATION IN A NEUROFIBROMA. REPORT OF A CASE. (14333143)
1965
44
On the relation between Dubin-Johnson syndrome and Rotor type. A case of Dubin-Johnson syndrome complicated with serum hepatitis. (5860916)
1965
45
DUBIN-JOHNSON SYNDROME AND IDIOPATHIC THROMBOCYTOPENIC PURPURA IN ONE PATIENT. (14272504)
1965
46
HEPATITIS WITH RESULTING MOBILIZATION OF HEPATIC PIGMENT IN A PATIENT WITH DUBIN-JOHNSON SYNDROME. (14234683)
1964
47
THE DUBIN-JOHNSON SYNDROME. (14123788)
1964
48
Dubin-Johnson syndrome: report of a case occurring in a Negro male. (13799514)
1960
49
A case of the Dubin-Johnson syndrome. (13835225)
1959
50
Chronic idiopathic jaundice (Dubin-Johnson syndrome). (13565867)
1958

Variations for Dubin-Johnson Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756rs72558202
3ABCC2p.Arg1150HisVAR_013327rs72558200
4ABCC2p.Ile1173PheVAR_013328rs72558201

Clinvar genetic disease variations for Dubin-Johnson Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCC2NM_000392.4(ABCC2): c.1967+1G> Asingle nucleotide variantPathogenicrs146405172GRCh37Chr 10, 101571360: 101571360
2ABCC2NM_000392.4(ABCC2): c.2901C> A (p.Tyr967Ter)single nucleotide variantPathogenicrs17222547GRCh37Chr 10, 101591385: 101591385
3ABCC2NM_000392.4(ABCC2): c.3741+1G> Asingle nucleotide variantPathogenicrs34937870GRCh37Chr 10, 101601851: 101601851
4ABCC2NM_000392.4(ABCC2): c.1013_1014delTG (p.Val338Glufs)deletionPathogenicrs864309675GRCh37Chr 10, 101559109: 101559110
5ABCC2NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter)single nucleotide variantPathogenicrs72558199GRCh37Chr 10, 101591826: 101591826
6ABCC2ABCC2, 168-BP DEL, NT2272deletionPathogenic
7ABCC2NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp)single nucleotide variantPathogenicrs56199535GRCh37Chr 10, 101578577: 101578577
8ABCC2NM_000392.4(ABCC2): c.1815+2T> Asingle nucleotide variantPathogenicrs387906395GRCh37Chr 10, 101567988: 101567988
9ABCC2ABCC2, IVS18DS, T-C, +2single nucleotide variantPathogenic
10ABCC2NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg)single nucleotide variantPathogenicrs72558202GRCh37Chr 10, 101605538: 101605538
11ABCC2NM_000392.4(ABCC2): c.1967+2T> Csingle nucleotide variantPathogenicrs387906396GRCh37Chr 10, 101571361: 101571361
12ABCC2NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe)single nucleotide variantPathogenicrs72558201GRCh37Chr 10, 101595950: 101595950
13ABCC2NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His)single nucleotide variantPathogenicrs72558200GRCh37Chr 10, 101595882: 101595882

Expression for genes affiliated with Dubin-Johnson Syndrome

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

Pathways for genes affiliated with Dubin-Johnson Syndrome

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Pathways related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
19.8ABCC2, ABCC3
29.7ABCC1, ABCC2
3
Show member pathways
9.7ABCC1, ABCC2
49.7ABCC1, ABCC3
59.3ABCC1, ABCC2, ABCC3
6
Show member pathways
9.3ABCC2, ABCC3, ABCC4
7
Show member pathways
8.9ABCC2, ABCC3, SLCO1B1
8
Show member pathways
8.9ABCC1, ABCC2, SLCO1B1
98.9ABCC1, ABCC2, ABCC3, ABCC4
108.9ABCC1, ABCC2, ABCC3, ABCC4
11
Show member pathways
8.9ABCC2, ABCC4, SLCO1B1
128.5ABCC2, ABCC3, ABCC4, SLCO1B1
138.5ABCC2, ABCC3, ABCC4, SLCO1B1
14
Show member pathways
8.4ABCC1, ABCC12, ABCC2, ABCC3, ABCC4
15
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
16
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
17
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1

GO Terms for genes affiliated with Dubin-Johnson Syndrome

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Cellular components related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.3ABCC1, ABCC4, SLCO1B1
2membraneGO:00160208.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
3plasma membraneGO:00058867.4ABCC1, ABCC2, ABCC3, ABCC4, F7, SLCO1B1

Biological processes related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.8ABCC3, SLCO1B1
2response to estrogenGO:00436279.8ABCC2, F7
3thyroid hormone transportGO:00703279.7ABCC2, SLCO1B1
4transportGO:00068109.6ABCC1, ABCC2, ABCC3
5anion transmembrane transportGO:00986569.4ABCC1, ABCC2, ABCC3, ABCC4
6response to drugGO:00424939.3ABCC1, ABCC2, ABCC4
7transmembrane transportGO:00550858.6ABCC1, ABCC12, ABCC2, ABCC3, ABCC4

Molecular functions related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:000851410.4ABCC2, ABCC3
2anion transmembrane-transporting ATPase activityGO:00432259.5ABCC1, ABCC2, ABCC3, ABCC4
3ATPase activity, coupled to transmembrane movement of substancesGO:00426269.4ABCC1, ABCC12, ABCC2, ABCC3
4ATP bindingGO:00055248.4ABCC1, ABCC12, ABCC2, ABCC3, ABCC4

Sources for Dubin-Johnson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet