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MCID: DBN001
MIFTS: 55

Dubin-Johnson Syndrome

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Dubin-Johnson Syndrome

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MalaCards integrated aliases for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 57 12 53 25 59 75 37 29 13 55 6 15 40
Djs 57 53 25 75
Conjugated Hyperbilirubinemia 53 29 73
Jaundice, Chronic Idiopathic 25 44 73
Chronic Idiopathic Jaundice 12 53
Hyperbilirubinemia Type 2 53 59
Hyperbilirubinemia Ii 57 25
Hyperbilirubinemia, Dubin-Johnson Type; Hblrdj 57
Hyperbilirubinemia, Dubin-Johnson Type 57
Dubin Johnson Syndrome 12
Sprinz-Nelson Syndrome 59
Hyperbilirubinemia 2 53
Dubin-Sprinz Disease 59
Hblrdj 57

Characteristics:

Orphanet epidemiological data:

59
dubin-johnson syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
most patients are asymptomatic
icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
increased frequency in persian jews (1:1,300)


HPO:

32
dubin-johnson syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM 57 237500
Disease Ontology 12 DOID:12308
ICD10 33 E80.6
MeSH 44 D007566
NCIt 50 C34741
SNOMED-CT 68 44553005
Orphanet 59 ORPHA234
MESH via Orphanet 45 D007566
UMLS via Orphanet 74 C0022350
ICD10 via Orphanet 34 E80.6
MedGen 42 C0022350
KEGG 37 H02056
Sources

Summaries for Dubin-Johnson Syndrome

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NIH Rare Diseases : 53 Dubin-Johnson syndrome (DJS) is an inherited disorder of bilirubin characterized 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 pills, infection, and pregnancy. In most cases, treatment is not required. 

MalaCards based summary : Dubin-Johnson Syndrome, also known as djs, is related to hyperbilirubinemia, rotor type and bilirubin metabolic disorder, and has symptoms including icterus and jaundice (not of newborn). An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways/superpathways are ABC transporters and Bile secretion. The drugs Iron and Bilirubin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are hepatomegaly and fever

OMIM : 57 Dubin-Johnson syndrome is an 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 (summary by Wada et al., 1998). (237500)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

Disease Ontology : 12 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.

Wikipedia : 76 Dubin–Johnson syndrome (DJS) is a rare, autosomal recessive, benign disorder that causes an isolated... more...

Sources

Related Diseases for Dubin-Johnson Syndrome

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 32.0 ABCC2 SLCO1B1
2 bilirubin metabolic disorder 29.4 ABCC2 SLCO1B1
3 intrahepatic cholestasis 29.1 ABCC2 ABCC3 SLCO1B1
4 cholestasis 29.0 ABCC2 ABCC3 ABCC4 SLCO1B1
5 gilbert syndrome 11.3
6 crigler-najjar syndrome, type ii 11.3
7 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.2
8 hepatitis 10.7
9 viral hepatitis 10.3
10 hepatocellular carcinoma 10.3
11 factor vii deficiency 10.3
12 systemic lupus erythematosus 10.0
13 thrombocytopenic purpura, autoimmune 10.0
14 abetalipoproteinemia 10.0
15 hemochromatosis, type 1 10.0
16 wilson disease 10.0
17 aging 10.0
18 alpha-1-antitrypsin deficiency 10.0
19 hemangioma 10.0
20 hepatitis b 10.0
21 liver cirrhosis 10.0
22 liver disease 10.0
23 thalassemia 10.0
24 thrombosis 10.0
25 cholelithiasis 10.0
26 cholecystolithiasis 10.0
27 portal vein thrombosis 10.0
28 choledocholithiasis 10.0
29 hemosiderosis 10.0
30 hereditary spherocytosis 10.0
31 congenital dyserythropoietic anemia 10.0
32 hepatitis c 10.0
33 neonatal jaundice 10.0
34 purpura 10.0
35 cavernous hemangioma 10.0
36 pancreatitis 10.0
37 pneumonia 10.0
38 lupus erythematosus 10.0
39 neurofibroma 10.0
40 dwarfism 10.0
41 bile duct carcinoma 10.0 ABCC2 ABCC3
42 extrahepatic cholestasis 9.8 ABCC1 ABCC2 ABCC3
43 bile duct disease 9.8 ABCC2 ABCC3 ABCC4
44 biliary tract disease 9.7 ABCC2 ABCC3 ABCC4
45 pseudoxanthoma elasticum 9.7 ABCC1 ABCC2

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



Diseases related to Dubin-Johnson Syndrome
Sources

Symptoms & Phenotypes for Dubin-Johnson Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
conjugated hyperbilirubinemia
routine liver function tests normal
normal serum bile acids
characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)
normal total urinary coproporphyrin
more
Abdomen Liver:
cholestasis
coarse pigment in centrilobular cells
black liver

Abdomen Biliary Tract:
nonvisualization of gallbladder (oral cholecystography)


Clinical features from OMIM:

237500

Human phenotypes related to Dubin-Johnson Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
2 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
3 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
4 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
5 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 biliary tract abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001080
7 abnormality of the gastric mucosa 59 32 frequent (33%) Frequent (79-30%) HP:0004295
8 abnormality of coagulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001928
9 abnormal urinary color 59 32 hallmark (90%) Very frequent (99-80%) HP:0012086
10 conjugated hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002908
11 abnormality of the liver 59 Very frequent (99-80%)

UMLS symptoms related to Dubin-Johnson Syndrome:


icterus, jaundice (not of newborn)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 ABCC1 ABCC4 F7
Sources

Drugs & Therapeutics for Dubin-Johnson Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2
Bilirubin ,Not Applicable 635-65-4 5280352
3 Hematinics
4 Liver Extracts ,Not Applicable
5 Antioxidants Not Applicable
6 Protective Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
2 Conjugated Hyperbilirubinemia and Pulse Oximetry Terminated NCT00741117 Not Applicable

Search NIH Clinical Center for Dubin-Johnson Syndrome

Cochrane evidence based reviews: jaundice, chronic idiopathic

Sources

Genetic Tests for Dubin-Johnson Syndrome

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Genetic tests related to Dubin-Johnson Syndrome:

# Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome 29 ABCC2
2 Conjugated Hyperbilirubinemia 29
Sources

Anatomical Context for Dubin-Johnson Syndrome

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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

41
Liver, Skin, Eye, Testes, Colon
Sources

Publications for Dubin-Johnson Syndrome

About this section

Articles related to Dubin-Johnson Syndrome:

(show top 50) (show all 189)
# Title Authors Year
1
Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan. ( 29499989 )
2018
2
Hepatobiliary and Pancreatic: A black liver of Dubin-Johnson syndrome. ( 29469235 )
2018
3
Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28982379 )
2017
4
Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing. ( 29032691 )
2017
5
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
6
IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome. ( 27406372 )
2016
7
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome. ( 26264947 )
2015
8
Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene. ( 25336012 )
2014
9
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case. ( 24228133 )
2013
10
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome. ( 23045960 )
2013
11
Hepatectomy in a hepatocellular carcinoma case with Dubin-Johnson syndrome and indocyanine green excretory defect. ( 26181407 )
2013
12
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. ( 23429660 )
2013
13
Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. ( 23708305 )
2013
14
Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome. ( 20819184 )
2012
15
[A case of sustained cholestasis caused by acute A viral hepatitis in Dubin-Johnson syndrome]. ( 22544030 )
2012
16
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes. ( 23065530 )
2012
17
Dubin-Johnson syndrome presenting after acute viral hepatitis. ( 24834177 )
2011
18
[Pleomorphism of the myelin-like bodies in the hepatocytes of patients with Dubin-Johnson syndrome complicated with chronic hepatitis B]. ( 21586241 )
2011
19
Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report. ( 21948575 )
2011
20
Persistent cholestasis following cholecystectomy: a case of Dubin-Johnson syndrome. ( 20227718 )
2010
21
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. ( 21044052 )
2010
22
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. ( 19881259 )
2009
23
Quiz HQ 45. A rare case of conjugated hyperbilirubinemia. Dubin-Johnson syndrome. ( 18697280 )
2008
24
Dubin-Johnson syndrome. ( 18460254 )
2008
25
Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations. ( 17287630 )
2007
26
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. ( 16549534 )
2006
27
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
28
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. ( 17085354 )
2006
29
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
30
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. ( 17183837 )
2006
31
Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome: a case report. ( 16521235 )
2006
32
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. ( 16012956 )
2005
33
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. ( 15777714 )
2005
34
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. ( 15967123 )
2005
35
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. ( 15870973 )
2005
36
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. ( 15143928 )
2004
37
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. ( 15565411 )
2004
38
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 15519272 )
2004
39
Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 14662121 )
2003
40
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). ( 12388192 )
2003
41
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. ( 12942343 )
2003
42
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. ( 12884082 )
2003
43
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. ( 12395335 )
2002
44
[Dubin-Johnson syndrome: molecular basis and pathogenesis]. ( 12416362 )
2002
45
Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. ( 12012642 )
2002
46
Association of Dubin-Johnson syndrome and portal vein thrombosis. ( 12118928 )
2002
47
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
48
Hepatobiliary scintigraphy in an exacerbation of Dubin-Johnson syndrome. ( 11416756 )
2001
49
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. ( 11477083 )
2001
50
Incipient perisinusoidal fibrosis in an adult patient with Dubin-Johnson syndrome. ( 10979180 )
2000
Sources

Variations for Dubin-Johnson Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 ABCC2 p.Arg768Trp VAR_000099 rs56199535
2 ABCC2 p.Gln1382Arg VAR_010756 rs72558202
3 ABCC2 p.Arg1150His VAR_013327 rs72558200
4 ABCC2 p.Ile1173Phe VAR_013328 rs72558201

ClinVar genetic disease variations for Dubin-Johnson Syndrome:

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC2 NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs56199535 GRCh37 Chromosome 10, 101578577: 101578577
2 ABCC2 NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs56199535 GRCh38 Chromosome 10, 99818820: 99818820
3 ABCC2 NM_000392.4(ABCC2): c.1815+2T> A single nucleotide variant Pathogenic rs387906395 GRCh37 Chromosome 10, 101567988: 101567988
4 ABCC2 NM_000392.4(ABCC2): c.1815+2T> A single nucleotide variant Pathogenic rs387906395 GRCh38 Chromosome 10, 99808231: 99808231
5 ABCC2 ABCC2, IVS18DS, T-C, +2 single nucleotide variant Pathogenic
6 ABCC2 NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg) single nucleotide variant Pathogenic rs72558202 GRCh37 Chromosome 10, 101605538: 101605538
7 ABCC2 NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg) single nucleotide variant Pathogenic rs72558202 GRCh38 Chromosome 10, 99845781: 99845781
8 ABCC2 NM_000392.4(ABCC2): c.1967+2T> C single nucleotide variant Pathogenic rs387906396 GRCh37 Chromosome 10, 101571361: 101571361
9 ABCC2 NM_000392.4(ABCC2): c.1967+2T> C single nucleotide variant Pathogenic rs387906396 GRCh38 Chromosome 10, 99811604: 99811604
10 ABCC2 NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe) single nucleotide variant Pathogenic rs72558201 GRCh37 Chromosome 10, 101595950: 101595950
11 ABCC2 NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe) single nucleotide variant Pathogenic rs72558201 GRCh38 Chromosome 10, 99836193: 99836193
12 ABCC2 NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His) single nucleotide variant Pathogenic rs72558200 GRCh37 Chromosome 10, 101595882: 101595882
13 ABCC2 NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His) single nucleotide variant Pathogenic rs72558200 GRCh38 Chromosome 10, 99836125: 99836125
14 ABCC2 NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72558199 GRCh37 Chromosome 10, 101591826: 101591826
15 ABCC2 NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72558199 GRCh38 Chromosome 10, 99832069: 99832069
16 ABCC2 ABCC2, 168-BP DEL, NT2272 deletion Pathogenic
17 ABCC2 NM_000392.3(ABCC2): c.2273G> T (p.Gly758Val) single nucleotide variant Uncertain significance rs786205465 GRCh38 Chromosome 10, 99818791: 99818791
18 ABCC2 NM_000392.3(ABCC2): c.2273G> T (p.Gly758Val) single nucleotide variant Uncertain significance rs786205465 GRCh37 Chromosome 10, 101578548: 101578548
19 ABCC2 NM_000392.4(ABCC2): c.1967+1G> A single nucleotide variant Pathogenic rs146405172 GRCh37 Chromosome 10, 101571360: 101571360
20 ABCC2 NM_000392.4(ABCC2): c.1967+1G> A single nucleotide variant Pathogenic rs146405172 GRCh38 Chromosome 10, 99811603: 99811603
21 ABCC2 NM_000392.4(ABCC2): c.2901C> A (p.Tyr967Ter) single nucleotide variant Pathogenic rs17222547 GRCh37 Chromosome 10, 101591385: 101591385
22 ABCC2 NM_000392.4(ABCC2): c.2901C> A (p.Tyr967Ter) single nucleotide variant Pathogenic rs17222547 GRCh38 Chromosome 10, 99831628: 99831628
23 ABCC2 NM_000392.4(ABCC2): c.3542G> T (p.Arg1181Leu) single nucleotide variant Benign/Likely benign rs8187692 GRCh37 Chromosome 10, 101595975: 101595975
24 ABCC2 NM_000392.4(ABCC2): c.3542G> T (p.Arg1181Leu) single nucleotide variant Benign/Likely benign rs8187692 GRCh38 Chromosome 10, 99836218: 99836218
25 ABCC2 NM_000392.4(ABCC2): c.3972C> T (p.Ile1324=) single nucleotide variant Benign rs3740066 GRCh37 Chromosome 10, 101604207: 101604207
26 ABCC2 NM_000392.4(ABCC2): c.3972C> T (p.Ile1324=) single nucleotide variant Benign rs3740066 GRCh38 Chromosome 10, 99844450: 99844450
27 ABCC2 NM_000392.4(ABCC2): c.4509-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180717330 GRCh37 Chromosome 10, 101611250: 101611250
28 ABCC2 NM_000392.4(ABCC2): c.4509-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180717330 GRCh38 Chromosome 10, 99851493: 99851493
29 ABCC2 NM_000392.4(ABCC2): c.3741+1G> A single nucleotide variant Pathogenic rs34937870 GRCh37 Chromosome 10, 101601851: 101601851
30 ABCC2 NM_000392.4(ABCC2): c.3741+1G> A single nucleotide variant Pathogenic rs34937870 GRCh38 Chromosome 10, 99842094: 99842094
31 ABCC2 NM_000392.4(ABCC2): c.1013_1014delTG (p.Val338Glufs) deletion Pathogenic rs864309675 GRCh37 Chromosome 10, 101559109: 101559110
32 ABCC2 NM_000392.4(ABCC2): c.1013_1014delTG (p.Val338Glufs) deletion Pathogenic rs864309675 GRCh38 Chromosome 10, 99799352: 99799353
33 ABCC2 NM_000392.4(ABCC2): c.1249G> A (p.Val417Ile) single nucleotide variant Benign rs2273697 GRCh38 Chromosome 10, 99804058: 99804058
34 ABCC2 NM_000392.4(ABCC2): c.1249G> A (p.Val417Ile) single nucleotide variant Benign rs2273697 GRCh37 Chromosome 10, 101563815: 101563815
35 ABCC2 NM_000392.4(ABCC2): c.1446C> G (p.Thr482=) single nucleotide variant Likely benign rs113646094 GRCh38 Chromosome 10, 99804255: 99804255
36 ABCC2 NM_000392.4(ABCC2): c.1446C> G (p.Thr482=) single nucleotide variant Likely benign rs113646094 GRCh37 Chromosome 10, 101564012: 101564012
37 ABCC2 NM_000392.4(ABCC2): c.2743C> T (p.Arg915Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs112758556 GRCh37 Chromosome 10, 101590186: 101590186
38 ABCC2 NM_000392.4(ABCC2): c.2743C> T (p.Arg915Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs112758556 GRCh38 Chromosome 10, 99830429: 99830429
39 ABCC2 NM_000392.4(ABCC2): c.3973G> A (p.Gly1325Ser) single nucleotide variant Uncertain significance rs759452729 GRCh37 Chromosome 10, 101604208: 101604208
40 ABCC2 NM_000392.4(ABCC2): c.3973G> A (p.Gly1325Ser) single nucleotide variant Uncertain significance rs759452729 GRCh38 Chromosome 10, 99844451: 99844451
41 ABCC2 NM_000392.4(ABCC2): c.159A> G (p.Lys53=) single nucleotide variant Conflicting interpretations of pathogenicity rs17222596 GRCh37 Chromosome 10, 101544490: 101544490
42 ABCC2 NM_000392.4(ABCC2): c.159A> G (p.Lys53=) single nucleotide variant Conflicting interpretations of pathogenicity rs17222596 GRCh38 Chromosome 10, 99784733: 99784733
43 ABCC2 NM_000392.4(ABCC2): c.3888C> G (p.Ser1296Arg) single nucleotide variant Uncertain significance rs143990242 GRCh37 Chromosome 10, 101604123: 101604123
44 ABCC2 NM_000392.4(ABCC2): c.3888C> G (p.Ser1296Arg) single nucleotide variant Uncertain significance rs143990242 GRCh38 Chromosome 10, 99844366: 99844366
45 ABCC2 NM_000392.4(ABCC2): c.2613A> G (p.Glu871=) single nucleotide variant Uncertain significance rs76302654 GRCh37 Chromosome 10, 101579019: 101579019
46 ABCC2 NM_000392.4(ABCC2): c.2613A> G (p.Glu871=) single nucleotide variant Uncertain significance rs76302654 GRCh38 Chromosome 10, 99819262: 99819262
47 ABCC2 NM_000392.4(ABCC2): c.2125T> C (p.Trp709Arg) single nucleotide variant Pathogenic rs764958537 GRCh38 Chromosome 10, 99817338: 99817338
48 ABCC2 NM_000392.4(ABCC2): c.2125T> C (p.Trp709Arg) single nucleotide variant Pathogenic rs764958537 GRCh37 Chromosome 10, 101577095: 101577095
49 ABCC2 NM_000392.4(ABCC2): c.150C> T (p.His50=) single nucleotide variant Uncertain significance rs200595851 GRCh37 Chromosome 10, 101544481: 101544481
50 ABCC2 NM_000392.4(ABCC2): c.150C> T (p.His50=) single nucleotide variant Uncertain significance rs200595851 GRCh38 Chromosome 10, 99784724: 99784724
Sources

Expression for Dubin-Johnson Syndrome

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

Pathways for Dubin-Johnson Syndrome

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Pathways related to Dubin-Johnson Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 ABC transporters hsa02010
2 Bile secretion hsa04976

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 13.09 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
2
Glucose / Energy Metabolism 4
12.29 ABCC1 ABCC2 ABCC3 ABCC4
3
NRF2 pathway 1
11.9 ABCC2 ABCC3 ABCC4
4
Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview 65
Show member pathways
 11.87 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
5
Statin Pathway - Generalized, Pharmacokinetics 61
Show member pathways
 11.63 ABCC2 ABCC4 SLCO1B1
6
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 61
Show member pathways
 11.58 ABCC2 ABCC3 ABCC4
7
Bile secretion 37
11.56 ABCC2 ABCC3 ABCC4 SLCO1B1
8
Irinotecan Pathway 1
Show member pathways
 11.39 ABCC1 ABCC2 SLCO1B1
9
Codeine and Morphine Pathway, Pharmacokinetics 61
Show member pathways
 11.21 ABCC2 ABCC3 SLCO1B1
10
Doxorubicin Pathway, Pharmacokinetics 61
Show member pathways
 11.2 ABCC1 ABCC2
11
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.14 ABCC2 ABCC3
12
Constitutive Androstane Receptor Pathway 1
11.09 ABCC2 ABCC3
13
Antifolate resistance 37
11.05 ABCC1 ABCC2 ABCC3 ABCC4
14
Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling 1
10.99 ABCC2 ABCC3 ABCC4
15
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 61
10.94 ABCC1 ABCC2
16
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics 61
10.72 ABCC1 ABCC3
17
Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics 61
10.71 ABCC1 ABCC2 ABCC3 ABCC4
18
Taxane Pathway, Pharmacokinetics 61
10.65 ABCC1 ABCC2
19
Vinka Alkaloid Pathway, Pharmacokinetics 61
10.54 ABCC1 ABCC2 ABCC3
20
Drug Induction of Bile Acid Pathway 1
10.49 ABCC2 ABCC3 ABCC4 SLCO1B1
21
Methotrexate Pathway, Pharmacokinetics 61
Show member pathways
 10.32 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
Sources

GO Terms for Dubin-Johnson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.35 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
2 basolateral plasma membrane GO:0016323 8.92 ABCC1 ABCC3 ABCC4 SLCO1B1

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.63 ABCC1 ABCC2 ABCC4
2 response to estrogen GO:0043627 9.48 ABCC2 F7
3 bile acid and bile salt transport GO:0015721 9.43 ABCC3 SLCO1B1
4 transmembrane transport GO:0055085 9.43 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4 SLCO1B1
5 organic anion transport GO:0015711 9.4 ABCC2 SLCO1B1
6 thyroid hormone transport GO:0070327 9.37 ABCC2 SLCO1B1
7 drug transmembrane transport GO:0006855 9.33 ABCC1 ABCC2 ABCC3
8 xenobiotic transport GO:0042908 9.32 ABCC1 ABCC3
9 canalicular bile acid transport GO:0015722 9.26 ABCC2 ABCC3
10 ATP hydrolysis coupled anion transmembrane transport GO:0099133 8.92 ABCC1 ABCC2 ABCC3 ABCC4

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
2 ATPase activity GO:0016887 9.55 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
3 transmembrane transporter activity GO:0022857 9.54 ABCC1 ABCC2 ABCC3
4 organic anion transmembrane transporter activity GO:0008514 9.43 ABCC1 ABCC2 ABCC3
5 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.32 ABCC1 ABCC3
6 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.26 ABCC1 ABCC2 ABCC3 ABCC4
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
Sources

Sources for Dubin-Johnson Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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