MCID: DBN001
MIFTS: 53

Dubin-Johnson Syndrome malady

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

Aliases & Classifications for Dubin-Johnson Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 36MeSH, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 49 10 11 45 22 23 47 12 51 67
Jaundice, Chronic Idiopathic 23 36 65
Djs 45 23 67
Conjugated Hyperbilirubinemia 45 65
Chronic Idiopathic Jaundice 10 45
Hyperbilirubinemia Type 2 45 51
 
Dubin Johnson Syndrome 10 24
Hyperbilirubinemia Type Ii 22
Sprinz-Nelson Syndrome 51
Hyperbilirubinemia Ii 23
Dubin-Sprinz Disease 51
Hyperbilirubinemia 2 45

Characteristics:

Orphanet epidemiological data:

51
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

61
dubin-johnson syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 237500
Disease Ontology10 DOID:12308
ICD1027 E80.6
MeSH36 D007566
NCIt42 C34741
SNOMED-CT59 44553005
Orphanet51 234
ICD10 via Orphanet28 E80.6
MESH via Orphanet37 D007566
UMLS via Orphanet66 C0022350
MedGen34 C0022350
UMLS65 C0022350, C0268307

Summaries for Dubin-Johnson Syndrome

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NIH Rare Diseases:45 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 based summary: Dubin-Johnson Syndrome, also known as jaundice, chronic idiopathic, is related to gilbert syndrome and crigler-najjar syndrome, type ii, and has symptoms including abnormality of urine homeostasis, abnormality of the gastric mucosa and abnormality of temperature regulation. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways are Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. Affiliated tissues include liver, skin and eye, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 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:23 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:49 Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase... (237500) more...

UniProtKB/Swiss-Prot:67 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:

 51 (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

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 temperature regulation occasional (7.5%) HP:0004370
4 hepatomegaly occasional (7.5%) HP:0002240
5 abdominal pain occasional (7.5%) HP:0002027
6 abnormality of coagulation occasional (7.5%) HP:0001928
7 conjugated hyperbilirubinemia HP:0002908
8 biliary tract abnormality HP:0001080
9 jaundice HP:0000952

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
1Protective Agents5651
2Liver Extracts3572
3
Bilirubin103635-65-45280352
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
4Antioxidants2442

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 Syndrome22 ABCC2

Anatomical Context for Dubin-Johnson Syndrome

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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

33
Liver, Skin, Eye, Kidney, Endothelial, Prostate, Placenta

Animal Models for Dubin-Johnson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ABCC1, ABCC2, ABCC3, ABCC4, F7, UROS

Publications for Dubin-Johnson Syndrome

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Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Impact of recombinant PTH on management of hypoparathyroidism: a systematic review. (25567344)
2015
2
Differential amniotic fluid cytokine profile in women with chorioamnionitis with and without funisitis. (26372455)
2015
3
Whose goal is it anyway? Self-directed goal setting for children with cerebral palsy. (26534842)
2015
4
Severe acute respiratory syndrome: 11 years later--a radiology perspective. (25247939)
2014
5
Follicular Dendritic Cell Sarcoma Presenting As a Thyroid Mass. (24663046)
2014
6
BACE1 levels by APOE genotype in non-demented and Alzheimer's post-mortem brains. (23036023)
2013
7
Old World Leishmaniasis on the Ear Lobe: A Rare Site. (24360726)
2013
8
Resveratrol suppresses cancer cell glucose uptake by targeting reactive oxygen species-mediated hypoxia-inducible factor-1I+ activation. (24221993)
2013
9
Vascular leiomyoma in the head and neck region: 11 years experience in one institution. (24069521)
2013
10
Circulating progenitor and mature endothelial cells in deep vein thrombosis. (24155660)
2013
11
Increase in West Nile virus infections imported to Germany in 2012. (24055268)
2013
12
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
13
CD1d-independent activation of mouse and human iNKT cells by bacterial superantigens. (22041925)
2012
14
Distinct distribution and localization of Rho-kinase in mouse epithelial, muscle and neural tissues. (22986902)
2012
15
An unbalanced t(15;18)(q21-q22;p11) as the sole cytogenetic aberration in a patient with B-cell chronic lymphocytic leukemia. (20513537)
2010
16
Regulation of cell proliferation and apoptosis in neuroblastoma cells by ccp1, a FGF2 downstream gene. (21118521)
2010
17
Enteric nervous system: sensory physiology, diarrhea and constipation. (19926984)
2010
18
Gene amplification CCNE1 is related to poor survival and potential therapeutic target in ovarian cancer. (20336784)
2010
19
Promises and drawbacks of targeting cell cycle kinases in cancer. (20040266)
2009
20
Cornelia de Lange Syndrome: a case report with clinical review and recommended anticipatory guidance for the general practitioner. (19813431)
2009
21
Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding. (19344765)
2009
22
The secretory omega-class glutathione transferase OvGST3 from the human pathogenic parasite Onchocerca volvulus. (18537826)
2008
23
Consequences of increased vascular permeability induced by treatment of mice with 5,6-dimethylxanthenone-4-acetic acid (DMXAA) and thalidomide. (17473922)
2008
24
Molecular mechanisms of Fas-mediated cell death in oligodendrocytes. (18435595)
2008
25
Corneal edema after aqueous drainage device implantation. (17571002)
2007
26
Transcriptional profiling of human embryonic stem cells and embryoid bodies identifies HESRG, a novel stem cell gene. (17803967)
2007
27
Silencing the constitutive active transcription factor CREB by the LKB1-SIK signaling cascade. (16817901)
2006
28
The c.-1639G > A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. (16611310)
2006
29
A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. (15811932)
2005
30
15-Lipoxygenase is a component of the mammalian sperm cytoplasmic droplet. (16049159)
2005
31
Cooperation between fibroblast growth factor receptor-4 and ErbB2 in regulation of cyclin D1 translation. (15377668)
2004
32
Generalized acanthosis nigricans in childhood. (15165217)
2004
33
Glycogen storage disease type Ia in Argentina: two novel glucose-6- phosphatase mutations affecting protein stability. (15542400)
2004
34
Studies on the relationship between the level of cytokine and liver function in patients with clonorchiasis sinensis]. (15283270)
2004
35
Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature. (12499951)
2003
36
Lead poisoning by self-administration in an exposed worker. (14616432)
2003
37
Laparoscopic splenectomy for massive splenomegaly. (11918887)
2002
38
The structural basis of the activation of Ras by Sos. (9690470)
1998
39
Increased polyploidy, delayed mitosis and reduced protein phosphatase-1 activity associated with excess copper in the Long Evans Cinnamon rat. (9591324)
1998
40
Persistent vegetative state. (9357427)
1997
41
Comparison of [3H]thymidine incorporation with MTT- and MTS-based bioassays for human and murine IL-2 and IL-4 analysis. Tetrazolium assays provide markedly enhanced sensitivity. (7490461)
1995
42
Necrotizing fasciitis due to Pasteurella multocida infection. (7727837)
1995
43
Inhibition of human T cell response to staphylococcal enterotoxin B by prior ligation of surface CD4 molecules. (8102087)
1993
44
Midline cervical cleft. A case report. (1453020)
1992
45
Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes. (1320378)
1992
46
Development of tympanosclerosis in children with otitis media with effusion and ventilation tubes. (1919311)
1991
47
A controlled trial of cyclophosphamide in patients with membranous glomerulonephritis. (3323596)
1987
48
Suppurative parotitis. (13689544)
1961
49
Polypoid ganglioneuroma of the colon. (13704906)
1961
50

Variations for Dubin-Johnson Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756
3ABCC2p.Arg1150HisVAR_013327
4ABCC2p.Ile1173PheVAR_013328

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_1014delTGdeletionPathogenicrs864309675GRCh37Chr 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
19.7ABCC1, ABCC2
2
Show member pathways
9.7ABCC1, ABCC2
39.6ABCC2, ABCC3
49.6ABCC1, ABCC3
5
Show member pathways
9.6ABCC2, SLCO1B1
69.2ABCC1, ABCC2, ABCC3
7
Show member pathways
9.2ABCC1, ABCC2, SLCO1B1
8
Show member pathways
9.1ABCC2, ABCC3, SLCO1B1
9
Show member pathways
9.0ABCC2, ABCC3, ABCC4
10
Show member pathways
9.0ABCC2, ABCC4, SLCO1B1
118.6ABCC1, ABCC2, ABCC3, ABCC4
12
Show member pathways
8.6ABCC1, ABCC2, ABCC3, ABCC4
138.5ABCC2, ABCC3, ABCC4, SLCO1B1
148.5ABCC2, ABCC3, ABCC4, SLCO1B1
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
1membraneGO:00160208.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1

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

idNameGO IDScoreTop Affiliating Genes
1response to estrogenGO:00436279.8ABCC2, F7
2metabolic processGO:00081529.2ABCC1, ABCC2, ABCC3

Sources for Dubin-Johnson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet