DJS
MCID: DBN001
MIFTS: 55

Dubin-Johnson Syndrome (DJS)

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

Aliases & Classifications for Dubin-Johnson Syndrome

MalaCards integrated aliases for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 58 12 77 54 26 60 76 38 30 13 56 6 15 41
Djs 58 54 26 76
Jaundice, Chronic Idiopathic 26 45 74
Chronic Idiopathic Jaundice 12 54 26
Hyperbilirubinemia, Dubin-Johnson Type 58 26
Conjugated Hyperbilirubinemia 54 74
Hyperbilirubinemia Type 2 54 60
Hyperbilirubinemia Ii 58 26
Chronic Idiopathic Jaundice with Pigmented Liver 26
Hyperbilirubinemia, Dubin-Johnson Type; Hblrdj 58
Black Liver-Jaundice Syndrome 26
Dubin Johnson Syndrome 12
Sprinz-Nelson Syndrome 60
Dubin-Sprinz Syndrome 26
Hyperbilirubinemia 2 54
Dubin-Sprinz Disease 60
Hblrdj 58

Characteristics:

Orphanet epidemiological data:

60
dubin-johnson syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
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:

33
dubin-johnson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12308
OMIM 58 237500
KEGG 38 H02056
MeSH 45 D007566
NCIt 51 C34741
SNOMED-CT 69 44553005
ICD10 34 E80.6
MESH via Orphanet 46 D007566
ICD10 via Orphanet 35 E80.6
UMLS via Orphanet 75 C0022350
Orphanet 60 ORPHA234
MedGen 43 C0022350

Summaries for Dubin-Johnson Syndrome

NIH Rare Diseases : 54 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 cholestasis and hyperbilirubinemia, rotor type, 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 jaundice and biliary tract abnormality

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.

Genetics Home Reference : 26 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. Jaundice is typically the only feature of Dubin-Johnson syndrome, but some people can experience weakness, mild abdominal pain, nausea, or vomiting. In most people with Dubin-Johnson syndrome, certain deposits build up in the liver but do not seem to impair liver function. The deposits make the liver appear black when viewed with medical imaging.

OMIM : 58 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 : 76 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.

Wikipedia : 77 Dubin–Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase... more...

Related Diseases for Dubin-Johnson Syndrome

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.7 ABCC2 ABCC3 ABCC4
2 hyperbilirubinemia, rotor type 11.9
3 gilbert syndrome 11.5
4 crigler-najjar syndrome, type ii 11.5
5 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.3
6 biliary atresia, extrahepatic 11.3
7 bile acid synthesis defect, congenital, 1 11.3
8 hepatitis 10.7
9 bilirubin metabolic disorder 10.6
10 viral hepatitis 10.5
11 hepatocellular carcinoma 10.4
12 factor vii deficiency 10.4
13 intrahepatic cholestasis of pregnancy 10.4
14 blood group, junior system 10.3
15 systemic lupus erythematosus 10.2
16 thrombocytopenic purpura, autoimmune 10.2
17 abetalipoproteinemia 10.2
18 wilson disease 10.2
19 coats disease 10.2
20 alpha-1-antitrypsin deficiency 10.2
21 hepatitis b 10.2
22 liver cirrhosis 10.2
23 liver disease 10.2
24 thalassemia 10.2
25 thrombosis 10.2
26 cholelithiasis 10.2
27 cholecystolithiasis 10.2
28 portal vein thrombosis 10.2
29 choledocholithiasis 10.2
30 hemosiderosis 10.2
31 hereditary spherocytosis 10.2
32 congenital dyserythropoietic anemia 10.2
33 hepatitis c 10.2
34 neonatal jaundice 10.2
35 purpura 10.2
36 pneumonia 10.2
37 lupus erythematosus 10.2
38 neurofibroma 10.2
39 dwarfism 10.2
40 prostate cancer 10.2
41 prostate cancer, hereditary, 8 10.2
42 prostate cancer, hereditary, 6 10.2
43 blood group--wright antigen 10.1
44 lymphoma 10.1
45 japanese encephalitis 10.1
46 hemolytic-uremic syndrome 10.0
47 retinoblastoma 10.0
48 disorganization, mouse, homolog of 10.0
49 salla disease 10.0
50 anaplastic large cell lymphoma 10.0

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



Diseases related to Dubin-Johnson Syndrome

Symptoms & Phenotypes for Dubin-Johnson Syndrome

Human phenotypes related to Dubin-Johnson Syndrome:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
2 biliary tract abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0001080
3 abnormal urinary color 60 33 hallmark (90%) Very frequent (99-80%) HP:0012086
4 conjugated hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002908
5 abnormality of the gastric mucosa 60 33 frequent (33%) Frequent (79-30%) HP:0004295
6 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
7 fever 60 33 occasional (7.5%) Occasional (29-5%) HP:0001945
8 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
9 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
10 abnormality of coagulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001928
11 abnormality of the liver 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 ABCC1 ABCC4 F7

Drugs & Therapeutics for Dubin-Johnson Syndrome

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, Experimental 7439-89-6, 15438-31-0 27284 23925
2
Bilirubin ,Not Applicable 635-65-4, 69853-43-6 21252250 5280352
3 Liver Extracts ,Not Applicable
4 Hematinics
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 Intestinal Microbiome Composition in Infants With Biliary Atresia (BA) Not yet recruiting NCT03890536
3 Conjugated Hyperbilirubinemia and Pulse Oximetry Terminated NCT00741117 Not Applicable

Search NIH Clinical Center for Dubin-Johnson Syndrome

Cochrane evidence based reviews: jaundice, chronic idiopathic

Genetic Tests for Dubin-Johnson Syndrome

Genetic tests related to Dubin-Johnson Syndrome:

# Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome 30 ABCC2

Anatomical Context for Dubin-Johnson Syndrome

MalaCards organs/tissues related to Dubin-Johnson Syndrome:

42
Liver, Skin, Eye, Testes, Prostate, Thyroid, Colon

Publications for Dubin-Johnson Syndrome

Articles related to Dubin-Johnson Syndrome:

(show top 50) (show all 198)
# Title Authors Year
1
A Case of Dubin-Johnson Syndrome in Pregnancy. ( 31016076 )
2019
2
Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies. ( 31100164 )
2019
3
Hepatobiliary and Pancreatic: A black liver of Dubin-Johnson syndrome. ( 29469235 )
2018
4
Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease. ( 30545689 )
2018
5
Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome. ( 30344695 )
2018
6
Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan. ( 29499989 )
2018
7
Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy. ( 30092126 )
2018
8
Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing. ( 29032691 )
2017
9
Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28982379 )
2017
10
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
11
IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome. ( 27406372 )
2016
12
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome. ( 26264947 )
2015
13
Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene. ( 25336012 )
2014
14
Hepatectomy in a hepatocellular carcinoma case with Dubin-Johnson syndrome and indocyanine green excretory defect. ( 26181407 )
2013
15
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case. ( 24228133 )
2013
16
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. ( 23429660 )
2013
17
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome. ( 23045960 )
2013
18
Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. ( 23708305 )
2013
19
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes. ( 23065530 )
2012
20
Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome. ( 20819184 )
2012
21
[A case of sustained cholestasis caused by acute A viral hepatitis in Dubin-Johnson syndrome]. ( 22544030 )
2012
22
Dubin-Johnson syndrome presenting after acute viral hepatitis. ( 24834177 )
2011
23
Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report. ( 21948575 )
2011
24
[Pleomorphism of the myelin-like bodies in the hepatocytes of patients with Dubin-Johnson syndrome complicated with chronic hepatitis B]. ( 21586241 )
2011
25
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. ( 21044052 )
2010
26
Persistent cholestasis following cholecystectomy: a case of Dubin-Johnson syndrome. ( 20227718 )
2010
27
'Lager, lager shouting': the role of music and DJs in nightclub disorder control. ( 20011990 )
2009
28
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. ( 19881259 )
2009
29
Quiz HQ 45. A rare case of conjugated hyperbilirubinemia. Dubin-Johnson syndrome. ( 18697280 )
2008
30
Dubin-Johnson syndrome. ( 18460254 )
2008
31
Music exposure and audiological findings in Brazilian disc jockeys (DJs). ( 17487670 )
2007
32
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
33
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. ( 17183837 )
2006
34
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. ( 17085354 )
2006
35
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
36
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. ( 16549534 )
2006
37
Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome: a case report. ( 16521235 )
2006
38
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
39
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. ( 16012956 )
2005
40
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. ( 15967123 )
2005
41
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. ( 15870973 )
2005
42
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. ( 15777714 )
2005
43
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. ( 15565411 )
2004
44
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 15519272 )
2004
45
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. ( 15143928 )
2004
46
Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 14662121 )
2003
47
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. ( 12942343 )
2003
48
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. ( 12884082 )
2003
49
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). ( 12388192 )
2003
50
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. ( 12395335 )
2002

Variations for Dubin-Johnson Syndrome

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

76
# 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 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC2 NM_000392.5(ABCC2): c.2755T> A (p.Ser919Thr) single nucleotide variant Uncertain significance rs775944091 GRCh38 Chromosome 10, 99830723: 99830723
2 ABCC2 NM_000392.5(ABCC2): c.2755T> A (p.Ser919Thr) single nucleotide variant Uncertain significance rs775944091 GRCh37 Chromosome 10, 101590480: 101590480
3 ABCC2 NM_000392.5(ABCC2): c.3008G> T (p.Trp1003Leu) single nucleotide variant Uncertain significance rs147566977 GRCh38 Chromosome 10, 99831735: 99831735
4 ABCC2 NM_000392.5(ABCC2): c.3008G> T (p.Trp1003Leu) single nucleotide variant Uncertain significance rs147566977 GRCh37 Chromosome 10, 101591492: 101591492
5 ABCC2 NM_000392.5(ABCC2): c.*178+81G> T single nucleotide variant Uncertain significance rs138578110 GRCh37 Chromosome 10, 101611647: 101611647
6 ABCC2 NM_000392.5(ABCC2): c.*178+81G> T single nucleotide variant Uncertain significance rs138578110 GRCh38 Chromosome 10, 99851890: 99851890
7 ABCC2 NM_000392.4(ABCC2): c.*116delG deletion Uncertain significance rs777704351 GRCh37 Chromosome 10, 101611504: 101611504
8 ABCC2 NM_000392.4(ABCC2): c.*116delG deletion Uncertain significance rs777704351 GRCh38 Chromosome 10, 99851747: 99851747
9 ABCC2 NM_000392.5(ABCC2): c.4488C> T (p.His1496=) single nucleotide variant Likely benign rs8187707 GRCh37 Chromosome 10, 101610533: 101610533
10 ABCC2 NM_000392.5(ABCC2): c.4488C> T (p.His1496=) single nucleotide variant Likely benign rs8187707 GRCh38 Chromosome 10, 99850776: 99850776
11 ABCC2 NM_000392.5(ABCC2): c.4410G> A (p.Glu1470=) single nucleotide variant Likely benign rs8187706 GRCh37 Chromosome 10, 101610455: 101610455
12 ABCC2 NM_000392.5(ABCC2): c.4410G> A (p.Glu1470=) single nucleotide variant Likely benign rs8187706 GRCh38 Chromosome 10, 99850698: 99850698
13 ABCC2 NM_000392.5(ABCC2): c.4290G> T (p.Val1430=) single nucleotide variant Likely benign rs1137968 GRCh37 Chromosome 10, 101606861: 101606861
14 ABCC2 NM_000392.5(ABCC2): c.4290G> T (p.Val1430=) single nucleotide variant Likely benign rs1137968 GRCh38 Chromosome 10, 99847104: 99847104
15 ABCC2 NM_000392.5(ABCC2): c.4146+11G> C single nucleotide variant Likely benign rs17216282 GRCh37 Chromosome 10, 101605550: 101605550
16 ABCC2 NM_000392.5(ABCC2): c.4146+11G> C single nucleotide variant Likely benign rs17216282 GRCh38 Chromosome 10, 99845793: 99845793
17 ABCC2 NM_000392.5(ABCC2): c.4110C> T (p.Leu1370=) single nucleotide variant Likely benign rs7899457 GRCh37 Chromosome 10, 101605503: 101605503
18 ABCC2 NM_000392.5(ABCC2): c.4110C> T (p.Leu1370=) single nucleotide variant Likely benign rs7899457 GRCh38 Chromosome 10, 99845746: 99845746
19 ABCC2 NM_000392.5(ABCC2): c.3648C> A (p.Asn1216Lys) single nucleotide variant Uncertain significance rs144967259 GRCh38 Chromosome 10, 99842000: 99842000
20 ABCC2 NM_000392.5(ABCC2): c.3648C> A (p.Asn1216Lys) single nucleotide variant Uncertain significance rs144967259 GRCh37 Chromosome 10, 101601757: 101601757
21 ABCC2 NM_000392.4(ABCC2): c.2362_2363delCT (p.Leu788Valfs) deletion Conflicting interpretations of pathogenicity rs772673105 GRCh38 Chromosome 10, 99818880: 99818881
22 ABCC2 NM_000392.4(ABCC2): c.2362_2363delCT (p.Leu788Valfs) deletion Conflicting interpretations of pathogenicity rs772673105 GRCh37 Chromosome 10, 101578637: 101578638
23 ABCC2 NM_000392.5(ABCC2): c.1602G> T (p.Lys534Asn) single nucleotide variant Uncertain significance rs149593061 GRCh38 Chromosome 10, 99807455: 99807455
24 ABCC2 NM_000392.5(ABCC2): c.1602G> T (p.Lys534Asn) single nucleotide variant Uncertain significance rs149593061 GRCh37 Chromosome 10, 101567212: 101567212
25 ABCC2 NM_000392.5(ABCC2): c.1219C> T (p.Leu407=) single nucleotide variant Likely benign rs17216198 GRCh37 Chromosome 10, 101563785: 101563785
26 ABCC2 NM_000392.5(ABCC2): c.1219C> T (p.Leu407=) single nucleotide variant Likely benign rs17216198 GRCh38 Chromosome 10, 99804028: 99804028
27 ABCC2 NM_000392.5(ABCC2): c.1008G> A (p.Thr336=) single nucleotide variant Uncertain significance rs761197359 GRCh37 Chromosome 10, 101559104: 101559104
28 ABCC2 NM_000392.5(ABCC2): c.1008G> A (p.Thr336=) single nucleotide variant Uncertain significance rs761197359 GRCh38 Chromosome 10, 99799347: 99799347
29 ABCC2 NM_000392.5(ABCC2): c.764G> A (p.Arg255Gln) single nucleotide variant Uncertain significance rs139964853 GRCh37 Chromosome 10, 101556985: 101556985
30 ABCC2 NM_000392.5(ABCC2): c.764G> A (p.Arg255Gln) single nucleotide variant Uncertain significance rs139964853 GRCh38 Chromosome 10, 99797228: 99797228
31 ABCC2 NM_000392.5(ABCC2): c.577-11G> T single nucleotide variant Uncertain significance rs200883270 GRCh37 Chromosome 10, 101554159: 101554159
32 ABCC2 NM_000392.5(ABCC2): c.577-11G> T single nucleotide variant Uncertain significance rs200883270 GRCh38 Chromosome 10, 99794402: 99794402
33 ABCC2 NM_000392.5(ABCC2): c.4447T> G (p.Phe1483Val) single nucleotide variant Uncertain significance rs886046621 GRCh37 Chromosome 10, 101610492: 101610492
34 ABCC2 NM_000392.5(ABCC2): c.4447T> G (p.Phe1483Val) single nucleotide variant Uncertain significance rs886046621 GRCh38 Chromosome 10, 99850735: 99850735
35 ABCC2 NM_000392.5(ABCC2): c.3815T> C (p.Ile1272Thr) single nucleotide variant Uncertain significance rs886046620 GRCh37 Chromosome 10, 101603629: 101603629
36 ABCC2 NM_000392.5(ABCC2): c.3815T> C (p.Ile1272Thr) single nucleotide variant Uncertain significance rs886046620 GRCh38 Chromosome 10, 99843872: 99843872
37 ABCC2 NM_000392.5(ABCC2): c.3576C> G (p.Thr1192=) single nucleotide variant Uncertain significance rs146575217 GRCh38 Chromosome 10, 99836252: 99836252
38 ABCC2 NM_000392.5(ABCC2): c.3576C> G (p.Thr1192=) single nucleotide variant Uncertain significance rs146575217 GRCh37 Chromosome 10, 101596009: 101596009
39 ABCC2 NM_000392.5(ABCC2): c.3563T> A (p.Val1188Glu) single nucleotide variant Likely benign rs17222723 GRCh38 Chromosome 10, 99836239: 99836239
40 ABCC2 NM_000392.5(ABCC2): c.3563T> A (p.Val1188Glu) single nucleotide variant Likely benign rs17222723 GRCh37 Chromosome 10, 101595996: 101595996
41 ABCC2 NM_000392.5(ABCC2): c.3500T> C (p.Val1167Ala) single nucleotide variant Uncertain significance rs140680467 GRCh38 Chromosome 10, 99836176: 99836176
42 ABCC2 NM_000392.5(ABCC2): c.3500T> C (p.Val1167Ala) single nucleotide variant Uncertain significance rs140680467 GRCh37 Chromosome 10, 101595933: 101595933
43 ABCC2 NM_000392.5(ABCC2): c.1815+4G> A single nucleotide variant Uncertain significance rs574319283 GRCh38 Chromosome 10, 99808233: 99808233
44 ABCC2 NM_000392.5(ABCC2): c.1815+4G> A single nucleotide variant Uncertain significance rs574319283 GRCh37 Chromosome 10, 101567990: 101567990
45 ABCC2 NM_000392.5(ABCC2): c.1032-14C> A single nucleotide variant Uncertain significance rs754368880 GRCh37 Chromosome 10, 101560129: 101560129
46 ABCC2 NM_000392.5(ABCC2): c.1032-14C> A single nucleotide variant Uncertain significance rs754368880 GRCh38 Chromosome 10, 99800372: 99800372
47 ABCC2 NM_000392.5(ABCC2): c.732G> A (p.Thr244=) single nucleotide variant Uncertain significance rs754060673 GRCh37 Chromosome 10, 101556953: 101556953
48 ABCC2 NM_000392.5(ABCC2): c.732G> A (p.Thr244=) single nucleotide variant Uncertain significance rs754060673 GRCh38 Chromosome 10, 99797196: 99797196
49 ABCC2 NM_000392.5(ABCC2): c.-24C> T single nucleotide variant Benign/Likely benign rs717620 GRCh37 Chromosome 10, 101542578: 101542578
50 ABCC2 NM_000392.5(ABCC2): c.-24C> T single nucleotide variant Benign/Likely benign rs717620 GRCh38 Chromosome 10, 99782821: 99782821

Expression for Dubin-Johnson Syndrome

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

Pathways for Dubin-Johnson Syndrome

Pathways related to Dubin-Johnson Syndrome according to KEGG:

38
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 ABCC1 ABCC2 ABCC3 ABCC4
2 12.22 ABCC1 ABCC2 ABCC3 ABCC4
3 11.85 ABCC2 ABCC3 ABCC4
4
Show member pathways
11.62 ABCC2 ABCC4
5
Show member pathways
11.53 ABCC2 ABCC3 ABCC4
6 11.44 ABCC2 ABCC3 ABCC4
7
Show member pathways
11.16 ABCC1 ABCC2
8 11.09 ABCC2 ABCC3
9 11.04 ABCC2 ABCC3
10 10.95 ABCC1 ABCC2 ABCC3 ABCC4
11 10.92 ABCC2 ABCC3 ABCC4
12 10.89 ABCC1 ABCC2
13 10.73 ABCC2 ABCC3 ABCC4
14 10.67 ABCC1 ABCC3
15 10.59 ABCC1 ABCC2
16
Show member pathways
10.56 ABCC1 ABCC2 ABCC3 ABCC4
17 10.43 ABCC1 ABCC2 ABCC3
18 10.18 ABCC1 ABCC2 ABCC3 ABCC4

GO Terms for Dubin-Johnson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.62 ABCC1 ABCC3

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 9.43 ABCC1 ABCC2 ABCC4
2 response to estrogen GO:0043627 9.32 ABCC2 F7
3 drug transmembrane transport GO:0006855 9.16 ABCC1 ABCC2
4 transmembrane transport GO:0055085 9.02 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
5 canalicular bile acid transport GO:0015722 8.96 ABCC2 ABCC3

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 9.72 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
2 transmembrane transporter activity GO:0022857 9.43 ABCC1 ABCC2 ABCC3
3 ATPase activity GO:0016887 9.35 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
4 organic anion transmembrane transporter activity GO:0008514 9.16 ABCC2 ABCC3
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4

Sources for Dubin-Johnson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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