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DJS
MCID: DBN001
MIFTS: 58

Dubin-Johnson Syndrome (DJS)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin 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 75 53 25 59 74 37 29 13 55 6 15
Djs 57 53 25 74
Jaundice, Chronic Idiopathic 25 44 72
Chronic Idiopathic Jaundice 12 53 25
Hyperbilirubinemia, Dubin-Johnson Type 57 25
Conjugated Hyperbilirubinemia 53 72
Hyperbilirubinemia Type 2 53 59
Hyperbilirubinemia Ii 57 25
Chronic Idiopathic Jaundice with Pigmented Liver 25
Hyperbilirubinemia, Dubin-Johnson Type; Hblrdj 57
Black Liver-Jaundice Syndrome 25
Syndrome, Dubin-Johnson 40
Dubin Johnson Syndrome 12
Sprinz-Nelson Syndrome 59
Dubin-Sprinz Syndrome 25
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 Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:12308
KEGG 37 H02056
MeSH 44 D007566
NCIt 50 C34741
SNOMED-CT 68 44553005
ICD10 33 E80.6
MESH via Orphanet 45 D007566
ICD10 via Orphanet 34 E80.6
UMLS via Orphanet 73 C0022350
Orphanet 59 ORPHA234
MedGen 42 C0022350
UMLS 72 C0022350 C0268307
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Summaries for Dubin-Johnson Syndrome

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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. 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. Rarely, jaundice develops soon after birth in individuals with Dubin-Johnson syndrome. Affected infants typically also have enlarged livers (hepatomegaly) and a severely reduced ability to produce and release a digestive fluid called bile (cholestasis). As these children get older, their liver problems go away and they usually do not have any related health problems later in life.

MalaCards based summary : Dubin-Johnson Syndrome, also known as djs, is related to cholestasis and intrahepatic cholestasis of pregnancy, 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 Methotrexate and leucovorin 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.

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.

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)

KEGG : 37
Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump.

UniProtKB/Swiss-Prot : 74 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 : 75 Dubin-Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase... more...

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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 top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 cholestasis 30.6 ABCC4 ABCC3 ABCC2
2 intrahepatic cholestasis of pregnancy 30.2 ABCC3 ABCC2
3 extrahepatic cholestasis 29.4 ABCC3 ABCC2 ABCC1
4 hyperbilirubinemia, rotor type 12.0
5 bilirubin metabolic disorder 12.0
6 gilbert syndrome 11.9
7 biliary atresia, extrahepatic 11.7
8 crigler-najjar syndrome, type ii 11.6
9 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.4
10 bile acid synthesis defect, congenital, 1 11.4
11 liver disease 10.7
12 autosomal recessive disease 10.6
13 viral hepatitis 10.5
14 hepatocellular carcinoma 10.4
15 factor vii deficiency 10.4
16 cholecystitis 10.4
17 hepatitis 10.4
18 hepatitis c virus 10.3
19 cholelithiasis 10.3
20 hemosiderosis 10.3
21 liver cirrhosis 10.3
22 lupus erythematosus 10.3
23 rare hereditary hemochromatosis 10.3
24 biliary atresia 10.3
25 lymphocytic leukemia 10.3
26 leukemia, acute lymphoblastic 10.2
27 alcohol dependence 10.2
28 atherosclerosis susceptibility 10.2
29 colorectal cancer 10.2
30 systemic lupus erythematosus 10.2
31 thrombocytopenic purpura, autoimmune 10.2
32 abetalipoproteinemia 10.2
33 hemochromatosis, type 1 10.2
34 wilson disease 10.2
35 adrenoleukodystrophy 10.2
36 coats disease 10.2
37 gallbladder disease 1 10.2
38 coronary heart disease 1 10.2
39 alpha-1-antitrypsin deficiency 10.2
40 stargardt disease 10.2
41 thrombosis 10.2
42 thalassemia 10.2
43 portal hypertension 10.2
44 cholecystolithiasis 10.2
45 constrictive pericarditis 10.2
46 portal vein thrombosis 10.2
47 choledocholithiasis 10.2
48 hereditary spherocytosis 10.2
49 diarrhea 10.2
50 porphyria 10.2

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



Diseases related to Dubin-Johnson Syndrome
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Symptoms & Phenotypes for Dubin-Johnson Syndrome

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Human phenotypes related to Dubin-Johnson Syndrome:

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

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

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

MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 ABCC1 ABCC2 ABCC3 ABCC4 F7 UROS
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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved 1959-05-2, 59-05-2 126941
2
leucovorin Approved 58-05-9 143 6006
3
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4 Immunologic Factors
5 Folic Acid Antagonists
6 Nucleic Acid Synthesis Inhibitors
7 Vitamin B9
8 Folate
9 Vitamin B Complex
10 Immunosuppressive Agents
11 Dermatologic Agents
12 Antimetabolites, Antineoplastic
13 Antimetabolites
14 Antirheumatic Agents
15 Antioxidants
16 Protective Agents
17 Liver Extracts
18
Bilirubin 635-65-4, 69853-43-6 5280352 21252250

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomization of Early Versus Standard Diabetes Screening Among Obese Pregnant Women Recruiting NCT03116009 Phase 3 Screening for diabetes with 1-hour GCT and HbA1
2 Urinary Ratio of the Coproporphyrins Isomers I and III and Its Relationships With Methotrexate Elimination in Patients With a Lymphoid Malignancy Completed NCT00822432
3 Cytomegalovirus Testing and Intervention Protocol for Newborn Nursery and Newborn Intensive Care Unit Completed NCT02680743
4 The Influence of Conjugated Hyperbilirubinemia on Pulse Oximetric Accuracy in Liver Disease Terminated NCT00741117

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
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

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Articles related to Dubin-Johnson Syndrome:

(show top 50) (show all 427)
# Title Authors PMID Year
1
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. 9 38 8 71
11477083 2001
2
Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. 9 38 8 71
10053008 1999
3
Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. 9 38 8 71
9425227 1998
4
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. 38 8 71
21044052 2010
5
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. 38 8 71
9878557 1998
6
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. 9 38 71
12942343 2003
7
Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization. 9 38 8
9284939 1997
8
Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. 9 38 8
8621134 1996
9
Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. 38 8
8599091 1996
10
Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis. 38 8
8235715 1993
11
Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin. 38 8
2853343 1987
12
Dubin-Johnson syndrome in a neonate. 38 8
520367 1979
13
Inheritance of the Dubin-Johnson syndrome. 38 8
4682034 1973
14
Dubin-Johnson syndrome in Israel. II. Association with factor-VII deficiency. 38 8
5499883 1970
15
Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. 38 8
5532959 1970
16
Dubin-Johnson syndrome: a family with three affected sisters. 38 8
6054296 1967
17
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. 38 8
5926936 1966
18
Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR. 8
9038871 1997
19
Expression of the MRP gene-encoded conjugate export pump in liver and its selective absence from the canalicular membrane in transport-deficient mutant hepatocytes. 8
7559771 1995
20
Inheritance of the Dubin-Johnson-Sprinz syndrome. 8
1123140 1975
21
Inheritable and congenital hyperbilirubinemia. Models for the study of drug metabolism. 8
5001058 1971
22
Chronic idiopathic jaundice. A case report. 8
13689909 1961
23
Chronic idiopathic jaundice. A study of two afflicted families. 8
13845662 1960
24
Familial DubinJohnson syndrome. 8
13586544 1958
25
Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. 8
13193360 1954
26
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. 9 38
19881259 2009
27
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. 9 38
17403188 2007
28
Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations. 9 38
17287630 2007
29
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. 9 38
17085354 2006
30
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. 9 38
17183837 2006
31
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. 9 38
16549534 2006
32
Apical/basolateral surface expression of drug transporters and its role in vectorial drug transport. 9 38
16180115 2005
33
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. 9 38
15870973 2005
34
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. 9 38
15777714 2005
35
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. 9 38
15967123 2005
36
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. 9 38
15565411 2004
37
Dubin-Johnson-like black liver with normal bilirubin level. 9 38
15565410 2004
38
Molecular characterization of a multidrug resistance-associated protein, Mrp2, from the little skate. 9 38
12388433 2003
39
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. 9 38
12884082 2003
40
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. 9 38
12395335 2002
41
Single nucleotide polymorphisms in multidrug resistance associated protein 2 (MRP2/ABCC2): its impact on drug disposition. 9 38
12406647 2002
42
[Dubin-Johnson syndrome: molecular basis and pathogenesis]. 9 38
12416362 2002
43
Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome. 9 38
11093739 2000
44
Multiple black hepatocellular adenomas in a male patient. 9 38
11111785 2000
45
A family of drug transporters: the multidrug resistance-associated proteins. 9 38
10944550 2000
46
Hepatic secretion of conjugated drugs and endogenous substances. 9 38
11076395 2000
47
Conjugate export pumps of the multidrug resistance protein (MRP) family: localization, substrate specificity, and MRP2-mediated drug resistance. 9 38
10581368 1999
48
[Mechanisms for resistance to anticancer agents and the reversal of the resistance]. 9 38
10695015 1999
49
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. 9 38
10464142 1999
50
Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane. 9 38
10094960 1999
Sources

Variations for Dubin-Johnson Syndrome

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ClinVar genetic disease variations for Dubin-Johnson Syndrome:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCC2 NM_000392.5(ABCC2): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs56199535 10:101578577-101578577 10:99818820-99818820
2 ABCC2 NM_000392.5(ABCC2): c.1815+2T> A single nucleotide variant Pathogenic rs387906395 10:101567988-101567988 10:99808231-99808231
3 ABCC2 ABCC2, IVS18DS, T-C, +2 single nucleotide variant Pathogenic
4 ABCC2 NM_000392.5(ABCC2): c.4145A> G (p.Gln1382Arg) single nucleotide variant Pathogenic rs72558202 10:101605538-101605538 10:99845781-99845781
5 ABCC2 NM_000392.5(ABCC2): c.1967+2T> C single nucleotide variant Pathogenic rs387906396 10:101571361-101571361 10:99811604-99811604
6 ABCC2 NM_000392.5(ABCC2): c.3517A> T (p.Ile1173Phe) single nucleotide variant Pathogenic rs72558201 10:101595950-101595950 10:99836193-99836193
7 ABCC2 NM_000392.5(ABCC2): c.3449G> A (p.Arg1150His) single nucleotide variant Pathogenic rs72558200 10:101595882-101595882 10:99836125-99836125
8 ABCC2 ABCC2, 168-BP DEL, NT2272 deletion Pathogenic
9 ABCC2 NM_000392.5(ABCC2): c.3741+1G> A single nucleotide variant Pathogenic rs34937870 10:101601851-101601851 10:99842094-99842094
10 ABCC2 NM_000392.5(ABCC2): c.1011_1012TG[1] (p.Val338fs) short repeat Pathogenic rs864309675 10:101559109-101559110 10:99799352-99799353
11 ABCC2 NM_000392.5(ABCC2): c.3196C> T (p.Arg1066Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72558199 10:101591826-101591826 10:99832069-99832069
12 ABCC2 NM_000392.5(ABCC2): c.4509-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs180717330 10:101611250-101611250 10:99851493-99851493
13 ABCC2 NM_000392.5(ABCC2): c.159A> G (p.Lys53=) single nucleotide variant Conflicting interpretations of pathogenicity rs17222596 10:101544490-101544490 10:99784733-99784733
14 ABCC2 NM_000392.5(ABCC2): c.2743C> T (p.Arg915Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs112758556 10:101590186-101590186 10:99830429-99830429
15 ABCC2 NM_000392.5(ABCC2): c.1325G> A (p.Trp442Ter) single nucleotide variant Conflicting interpretations of pathogenicity 10:101563891-101563891 10:99804134-99804134
16 ABCC2 NM_000392.5(ABCC2): c.2362_2363del (p.Leu788fs) deletion Conflicting interpretations of pathogenicity rs772673105 10:101578637-101578638 10:99818880-99818881
17 ABCC2 NM_000392.5(ABCC2): c.3648C> A (p.Asn1216Lys) single nucleotide variant Uncertain significance rs144967259 10:101601757-101601757 10:99842000-99842000
18 ABCC2 NM_000392.5(ABCC2): c.3256G> A (p.Gly1086Ser) single nucleotide variant Uncertain significance rs769152380 10:101591886-101591886 10:99832129-99832129
19 ABCC2 NM_000392.5(ABCC2): c.3068G> T (p.Arg1023Ile) single nucleotide variant Uncertain significance rs374311166 10:101591552-101591552 10:99831795-99831795
20 ABCC2 NM_000392.5(ABCC2): c.2747+5G> A single nucleotide variant Uncertain significance rs138988852 10:101590195-101590195 10:99830438-99830438
21 ABCC2 NM_000392.5(ABCC2): c.*116del deletion Uncertain significance rs777704351 10:101611504-101611504 10:99851747-99851747
22 ABCC2 NM_000392.5(ABCC2): c.*259G> T single nucleotide variant Uncertain significance rs138578110 10:101611647-101611647 10:99851890-99851890
23 ABCC2 NM_000392.5(ABCC2): c.1860T> A (p.Asp620Glu) single nucleotide variant Uncertain significance rs141413284 10:101569935-101569935 10:99810178-99810178
24 ABCC2 NM_000392.5(ABCC2): c.1346T> C (p.Val449Ala) single nucleotide variant Uncertain significance rs71488021 10:101563912-101563912 10:99804155-99804155
25 ABCC2 NM_000392.5(ABCC2): c.1602G> T (p.Lys534Asn) single nucleotide variant Uncertain significance rs149593061 10:101567212-101567212 10:99807455-99807455
26 ABCC2 NM_000392.5(ABCC2): c.2273G> T (p.Gly758Val) single nucleotide variant Uncertain significance rs786205465 10:101578548-101578548 10:99818791-99818791
27 ABCC2 NM_000392.5(ABCC2): c.411del (p.Leu138fs) deletion Uncertain significance 10:101553383-101553384 10:99793628-99793628
28 ABCC2 NM_000392.5(ABCC2): c.2997G> A (p.Trp999Ter) single nucleotide variant Uncertain significance 10:101591481-101591481 10:99831724-99831724
29 ABCC2 NM_000392.5(ABCC2): c.3104-1G> A single nucleotide variant Uncertain significance 10:101591733-101591733 10:99831976-99831976
30 ABCC2 NM_000392.5(ABCC2): c.3500T> C (p.Val1167Ala) single nucleotide variant Uncertain significance rs140680467 10:101595933-101595933 10:99836176-99836176
31 ABCC2 NM_000392.5(ABCC2): c.1815+4G> A single nucleotide variant Uncertain significance rs574319283 10:101567990-101567990 10:99808233-99808233
32 ABCC2 NM_000392.5(ABCC2): c.1032-14C> A single nucleotide variant Uncertain significance rs754368880 10:101560129-101560129 10:99800372-99800372
33 ABCC2 NM_000392.5(ABCC2): c.4454A> G (p.His1485Arg) single nucleotide variant Uncertain significance rs780026074 10:101610499-101610499 10:99850742-99850742
34 ABCC2 NM_000392.5(ABCC2): c.3988-15G> C single nucleotide variant Uncertain significance rs746609972 10:101605366-101605366 10:99845609-99845609
35 ABCC2 NM_000392.5(ABCC2): c.3492C> T (p.Ser1164=) single nucleotide variant Uncertain significance rs144192700 10:101595925-101595925 10:99836168-99836168
36 ABCC2 NM_000392.5(ABCC2): c.3357C> T (p.Ala1119=) single nucleotide variant Uncertain significance rs376532575 10:101594235-101594235 10:99834478-99834478
37 ABCC2 NM_000392.5(ABCC2): c.3576C> G (p.Thr1192=) single nucleotide variant Uncertain significance rs146575217 10:101596009-101596009 10:99836252-99836252
38 ABCC2 NM_000392.5(ABCC2): c.3815T> C (p.Ile1272Thr) single nucleotide variant Uncertain significance rs886046620 10:101603629-101603629 10:99843872-99843872
39 ABCC2 NM_000392.5(ABCC2): c.4447T> G (p.Phe1483Val) single nucleotide variant Uncertain significance rs886046621 10:101610492-101610492 10:99850735-99850735
40 ABCC2 NM_000392.5(ABCC2): c.577-11G> T single nucleotide variant Uncertain significance rs200883270 10:101554159-101554159 10:99794402-99794402
41 ABCC2 NM_000392.5(ABCC2): c.764G> A (p.Arg255Gln) single nucleotide variant Uncertain significance rs139964853 10:101556985-101556985 10:99797228-99797228
42 ABCC2 NM_000392.5(ABCC2): c.1008G> A (p.Thr336=) single nucleotide variant Uncertain significance rs761197359 10:101559104-101559104 10:99799347-99799347
43 ABCC2 NM_000392.5(ABCC2): c.3973G> A (p.Gly1325Ser) single nucleotide variant Uncertain significance rs759452729 10:101604208-101604208 10:99844451-99844451
44 ABCC2 NM_000392.5(ABCC2): c.1233C> T (p.Ala411=) single nucleotide variant Uncertain significance rs886046619 10:101563799-101563799 10:99804042-99804042
45 ABCC2 NM_000392.5(ABCC2): c.2588T> C (p.Leu863Pro) single nucleotide variant Uncertain significance rs201820826 10:101578994-101578994 10:99819237-99819237
46 ABCC2 NM_000392.5(ABCC2): c.3239T> C (p.Ile1080Thr) single nucleotide variant Uncertain significance rs138221862 10:101591869-101591869 10:99832112-99832112
47 ABCC2 NM_000392.5(ABCC2): c.732G> A (p.Thr244=) single nucleotide variant Uncertain significance rs754060673 10:101556953-101556953 10:99797196-99797196
48 ABCC2 NM_000392.5(ABCC2): c.3888C> G (p.Ser1296Arg) single nucleotide variant Uncertain significance rs143990242 10:101604123-101604123 10:99844366-99844366
49 ABCC2 NM_000392.5(ABCC2): c.2613A> G (p.Glu871=) single nucleotide variant Uncertain significance rs76302654 10:101579019-101579019 10:99819262-99819262
50 ABCC2 NM_000392.5(ABCC2): c.150C> T (p.His50=) single nucleotide variant Uncertain significance rs200595851 10:101544481-101544481 10:99784724-99784724

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

74
# 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

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 18)
# 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 ABCC4 ABCC3 ABCC2 ABCC1
2
Glucose / Energy Metabolism 4
12.22 ABCC4 ABCC3 ABCC2 ABCC1
3
Blood-Brain Barrier Pathway: Anatomy 65
Show member pathways
 11.86 ABCC4 ABCC3 ABCC2 ABCC1
4
NRF2 pathway 1
11.83 ABCC4 ABCC3 ABCC2
5
Statin Pathway - Generalized, Pharmacokinetics 61
Show member pathways
 11.63 ABCC4 ABCC2
6
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 61
Show member pathways
 11.55 ABCC4 ABCC3 ABCC2
7
Bile secretion 37
11.49 ABCC4 ABCC3 ABCC2
8
Doxorubicin Pathway, Pharmacokinetics 61
Show member pathways
 11.16 ABCC2 ABCC1
9
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.09 ABCC3 ABCC2
10
Constitutive Androstane Receptor Pathway 1
11.04 ABCC3 ABCC2
11
Antifolate resistance 37
10.95 ABCC4 ABCC3 ABCC2 ABCC1
12
Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling 1
10.91 ABCC4 ABCC3 ABCC2
13
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 61
10.89 ABCC2 ABCC1
14
Drug Induction of Bile Acid Pathway 1
10.73 ABCC4 ABCC3 ABCC2
15
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics 61
10.69 ABCC3 ABCC1
16
Methotrexate Pathway, Pharmacokinetics 61
Show member pathways
 10.56 ABCC4 ABCC3 ABCC2 ABCC1
17
Vinka Alkaloid Pathway, Pharmacokinetics 61
10.43 ABCC3 ABCC2 ABCC1
18
Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics 61
10.18 ABCC4 ABCC3 ABCC2 ABCC1
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 vacuolar membrane GO:0005774 8.62 ABCC3 ABCC1

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 ABCC4 ABCC2 ABCC1
2 response to organic cyclic compound GO:0014070 9.37 F7 ABCC4
3 response to estrogen GO:0043627 9.32 F7 ABCC2
4 drug transmembrane transport GO:0006855 9.16 ABCC2 ABCC1
5 transmembrane transport GO:0055085 9.02 ABCC4 ABCC3 ABCC2 ABCC12 ABCC1
6 canalicular bile acid transport GO:0015722 8.96 ABCC3 ABCC2

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 ABCC4 ABCC3 ABCC2 ABCC12 ABCC1
2 ATPase activity GO:0016887 9.35 ABCC4 ABCC3 ABCC2 ABCC12 ABCC1
3 transmembrane transporter activity GO:0022857 9.33 ABCC3 ABCC2 ABCC1
4 organic anion transmembrane transporter activity GO:0008514 9.26 ABCC3 ABCC2
5 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC4 ABCC3 ABCC2 ABCC12 ABCC1
Sources

Sources for Dubin-Johnson Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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