DJS
MCID: DBN001
MIFTS: 59

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 56 12 74 52 25 58 73 36 29 13 54 6 15
Djs 56 52 25 73
Jaundice, Chronic Idiopathic 25 43 71
Chronic Idiopathic Jaundice 12 52 25
Hyperbilirubinemia, Dubin-Johnson Type 56 25
Conjugated Hyperbilirubinemia 52 71
Hyperbilirubinemia Type 2 52 58
Hyperbilirubinemia Ii 56 25
Chronic Idiopathic Jaundice with Pigmented Liver 25
Hyperbilirubinemia, Dubin-Johnson Type; Hblrdj 56
Black Liver-Jaundice Syndrome 25
Syndrome, Dubin-Johnson 39
Dubin Johnson Syndrome 12
Sprinz-Nelson Syndrome 58
Dubin-Sprinz Syndrome 25
Hyperbilirubinemia 2 52
Dubin-Sprinz Disease 58
Hblrdj 56

Characteristics:

Orphanet epidemiological data:

58
dubin-johnson syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

56
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:

31
dubin-johnson syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:12308
OMIM 56 237500
OMIM Phenotypic Series 56 PS237450
KEGG 36 H02056
MeSH 43 D007566
NCIt 49 C34741
SNOMED-CT 67 44553005
ICD10 32 E80.6
MESH via Orphanet 44 D007566
ICD10 via Orphanet 33 E80.6
UMLS via Orphanet 72 C0022350
Orphanet 58 ORPHA234
MedGen 41 C0022350
UMLS 71 C0022350 C0268307

Summaries for Dubin-Johnson Syndrome

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 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 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 : 52 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 : 56 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 : 36 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 : 73 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 : 74 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 186)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 32.9 SLCO1B3 SLCO1B1 ABCC2
2 bilirubin metabolic disorder 31.0 SLCO1B3 SLCO1B1 ATP8B1 ABCC4 ABCC3 ABCC2
3 cholestasis 30.0 SLCO1B1 ATP8B1 ABCC4 ABCC3 ABCC2 ABCB11
4 extrahepatic cholestasis 29.8 ABCC3 ABCC2 ABCC1 ABCB11
5 cholestasis, benign recurrent intrahepatic, 1 29.8 ATP8B1 ABCC3 ABCC2 ABCB11
6 leukemia, acute lymphoblastic 29.5 ABCC5 ABCC4 ABCC3 ABCC1
7 intrahepatic cholestasis of pregnancy 29.3 SLCO1B3 SLCO1B1 ATP8B1 ABCC3 ABCC2 ABCB11
8 gilbert syndrome 11.9
9 biliary atresia, extrahepatic 11.7
10 crigler-najjar syndrome, type ii 11.6
11 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.4
12 bile acid synthesis defect, congenital, 1 11.4
13 autosomal recessive disease 10.6
14 liver disease 10.6
15 viral hepatitis 10.5
16 factor vii deficiency 10.4
17 cholelithiasis 10.4
18 cholecystitis 10.4
19 hepatitis 10.4
20 hepatocellular carcinoma 10.3
21 hepatitis c virus 10.3
22 cholecystolithiasis 10.3
23 hemosiderosis 10.3
24 hereditary spherocytosis 10.3
25 liver cirrhosis 10.3
26 lupus erythematosus 10.3
27 rare hereditary hemochromatosis 10.3
28 biliary atresia 10.3
29 lymphocytic leukemia 10.3
30 alcohol dependence 10.2
31 atherosclerosis susceptibility 10.2
32 colorectal cancer 10.2
33 fibrosis of extraocular muscles, congenital, 1 10.2
34 systemic lupus erythematosus 10.2
35 thrombocytopenic purpura, autoimmune 10.2
36 abetalipoproteinemia 10.2
37 hemochromatosis, type 1 10.2
38 wilson disease 10.2
39 adrenoleukodystrophy 10.2
40 coats disease 10.2
41 gallbladder disease 1 10.2
42 coronary heart disease 1 10.2
43 alpha-1-antitrypsin deficiency 10.2
44 stargardt disease 10.2
45 deficiency anemia 10.2
46 thrombosis 10.2
47 thalassemia 10.2
48 portal hypertension 10.2
49 constrictive pericarditis 10.2
50 portal vein thrombosis 10.2

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
2 biliary tract abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001080
3 conjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002908
4 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
5 abnormality of the gastric mucosa 58 31 frequent (33%) Frequent (79-30%) HP:0004295
6 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
7 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
8 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
9 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
10 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
11 abnormality of the liver 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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)

MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCB11 ABCC1 ABCC2 ABCC3 ABCC4 ABCC5
2 liver/biliary system MP:0005370 9.17 ABCB11 ABCC2 ABCC3 ATP8B1 SLCO1B3 TK1

Drugs & Therapeutics for Dubin-Johnson Syndrome

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

(show all 16)
# 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 6006 143
3
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4 Immunologic Factors
5 Vitamin B Complex
6 Folic Acid Antagonists
7 Dermatologic Agents
8 Folate
9 Vitamin B9
10 Antimetabolites
11 Antirheumatic Agents
12 Immunosuppressive Agents
13 Liver Extracts
14 Antioxidants
15 Protective Agents
16
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

Genetic Tests for Dubin-Johnson Syndrome

Genetic tests related to Dubin-Johnson Syndrome:

# Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome 29 ABCC2

Anatomical Context for Dubin-Johnson Syndrome

MalaCards organs/tissues related to Dubin-Johnson Syndrome:

40
Liver, Skin, Eye, Testes, Heart, Kidney, Thyroid

Publications for Dubin-Johnson Syndrome

Articles related to Dubin-Johnson Syndrome:

(show top 50) (show all 430)
# 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. 54 61 56 6
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. 54 61 56 6
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. 54 61 56 6
9425227 1998
4
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. 61 56 6
21044052 2010
5
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. 61 56 6
9878557 1998
6
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. 54 61 6
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. 54 61 56
9284939 1997
8
Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. 54 61 56
8621134 1996
9
Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. 61 56
8599091 1996
10
Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis. 61 56
8235715 1993
11
Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin. 61 56
2853343 1987
12
Dubin-Johnson syndrome in a neonate. 61 56
520367 1979
13
Inheritance of the Dubin-Johnson syndrome. 61 56
4682034 1973
14
Dubin-Johnson syndrome in Israel. II. Association with factor-VII deficiency. 61 56
5499883 1970
15
Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases. 61 56
5532959 1970
16
Dubin-Johnson syndrome: a family with three affected sisters. 61 56
6054296 1967
17
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. 61 56
5926936 1966
18
Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR. 56
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. 56
7559771 1995
20
Inheritance of the Dubin-Johnson-Sprinz syndrome. 56
1123140 1975
21
Inheritable and congenital hyperbilirubinemia. Models for the study of drug metabolism. 56
5001058 1971
22
Chronic idiopathic jaundice. A case report. 56
13689909 1961
23
Chronic idiopathic jaundice. A study of two afflicted families. 56
13845662 1960
24
Familial DubinJohnson syndrome. 56
13586544 1958
25
Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. 56
13193360 1954
26
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. 54 61
19881259 2009
27
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. 54 61
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. 54 61
17287630 2007
29
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. 54 61
17085354 2006
30
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. 54 61
17183837 2006
31
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. 54 61
16549534 2006
32
Apical/basolateral surface expression of drug transporters and its role in vectorial drug transport. 54 61
16180115 2005
33
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. 54 61
15870973 2005
34
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. 54 61
15777714 2005
35
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. 54 61
15967123 2005
36
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. 54 61
15565411 2004
37
Dubin-Johnson-like black liver with normal bilirubin level. 54 61
15565410 2004
38
Molecular characterization of a multidrug resistance-associated protein, Mrp2, from the little skate. 54 61
12388433 2003
39
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. 54 61
12884082 2003
40
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. 54 61
12395335 2002
41
Single nucleotide polymorphisms in multidrug resistance associated protein 2 (MRP2/ABCC2): its impact on drug disposition. 54 61
12406647 2002
42
[Dubin-Johnson syndrome: molecular basis and pathogenesis]. 54 61
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. 54 61
11093739 2000
44
Multiple black hepatocellular adenomas in a male patient. 54 61
11111785 2000
45
A family of drug transporters: the multidrug resistance-associated proteins. 54 61
10944550 2000
46
Hepatic secretion of conjugated drugs and endogenous substances. 54 61
11076395 2000
47
Conjugate export pumps of the multidrug resistance protein (MRP) family: localization, substrate specificity, and MRP2-mediated drug resistance. 54 61
10581368 1999
48
[Mechanisms for resistance to anticancer agents and the reversal of the resistance]. 54 61
10695015 1999
49
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. 54 61
10464142 1999
50
Characterization of the human multidrug resistance protein isoform MRP3 localized to the basolateral hepatocyte membrane. 54 61
10094960 1999

Variations for Dubin-Johnson Syndrome

ClinVar genetic disease variations for Dubin-Johnson Syndrome:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC2 NM_000392.5(ABCC2):c.3741+1G>ASNV Pathogenic 208557 rs34937870 10:101601851-101601851 10:99842094-99842094
2 ABCC2 NM_000392.5(ABCC2):c.1011_1012TG[1] (p.Val338fs)short repeat Pathogenic 218946 rs864309675 10:101559107-101559108 10:99799350-99799351
3 ABCC2 NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)SNV Pathogenic 8412 rs56199535 10:101578577-101578577 10:99818820-99818820
4 ABCC2 NM_000392.5(ABCC2):c.1815+2T>ASNV Pathogenic 8414 rs387906395 10:101567988-101567988 10:99808231-99808231
5 ABCC2 ABCC2, IVS18DS, T-C, +2SNV Pathogenic 8415
6 ABCC2 NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg)SNV Pathogenic 8416 rs72558202 10:101605538-101605538 10:99845781-99845781
7 ABCC2 NM_000392.5(ABCC2):c.1967+2T>CSNV Pathogenic 8417 rs387906396 10:101571361-101571361 10:99811604-99811604
8 ABCC2 NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe)SNV Pathogenic 8418 rs72558201 10:101595950-101595950 10:99836193-99836193
9 ABCC2 NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)SNV Pathogenic 8419 rs72558200 10:101595882-101595882 10:99836125-99836125
10 ABCC2 ABCC2, 168-BP DEL, NT2272deletion Pathogenic 39800
11 ABCC2 NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs)deletion Pathogenic 290862 rs762914474 10:101594276-101594277 10:99834519-99834520
12 ABCC2 NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter)SNV Pathogenic 692030 10:101604086-101604086 10:99844329-99844329
13 ABCC2 NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)SNV Pathogenic/Likely pathogenic 31603 rs72558199 10:101591826-101591826 10:99832069-99832069
14 ABCC2 NM_000392.5(ABCC2):c.4509-9T>CSNV Conflicting interpretations of pathogenicity 196730 rs180717330 10:101611250-101611250 10:99851493-99851493
15 ABCC2 NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys)SNV Conflicting interpretations of pathogenicity 282329 rs112758556 10:101590186-101590186 10:99830429-99830429
16 ABCC2 NM_000392.5(ABCC2):c.159A>G (p.Lys53=)SNV Conflicting interpretations of pathogenicity 286427 rs17222596 10:101544490-101544490 10:99784733-99784733
17 ABCC2 NM_000392.5(ABCC2):c.2095-6A>GSNV Conflicting interpretations of pathogenicity 298455 rs202210861 10:101577059-101577059 10:99817302-99817302
18 ABCC2 NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)SNV Conflicting interpretations of pathogenicity 298465 rs144192700 10:101595925-101595925 10:99836168-99836168
19 ABCC2 NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=)SNV Conflicting interpretations of pathogenicity 298468 rs146575217 10:101596009-101596009 10:99836252-99836252
20 ABCC2 NM_000392.5(ABCC2):c.1815+4G>ASNV Conflicting interpretations of pathogenicity 298453 rs574319283 10:101567990-101567990 10:99808233-99808233
21 ABCC2 NM_000392.5(ABCC2):c.1032-3C>TSNV Conflicting interpretations of pathogenicity 290082 rs139800035 10:101560140-101560140 10:99800383-99800383
22 ABCC2 NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)deletion Conflicting interpretations of pathogenicity 298456 rs772673105 10:101578637-101578638 10:99818880-99818881
23 ABCC2 NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)SNV Conflicting interpretations of pathogenicity 594246 rs776087856 10:101563891-101563891 10:99804134-99804134
24 ABCC2 NM_000392.5(ABCC2):c.411del (p.Leu138fs)deletion Uncertain significance 631621 rs1564670777 10:101553384-101553384 10:99793627-99793627
25 ABCC2 NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter)SNV Uncertain significance 632122 rs572224582 10:101591481-101591481 10:99831724-99831724
26 ABCC2 NM_000392.5(ABCC2):c.3104-1G>ASNV Uncertain significance 632123 rs1054194575 10:101591733-101591733 10:99831976-99831976
27 ABCC2 NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys)SNV Uncertain significance 298469 rs144967259 10:101601757-101601757 10:99842000-99842000
28 ABCC2 NM_000392.5(ABCC2):c.*259G>TSNV Uncertain significance 298483 rs138578110 10:101611647-101611647 10:99851890-99851890
29 ABCC2 NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)SNV Uncertain significance 298452 rs149593061 10:101567212-101567212 10:99807455-99807455
30 ABCC2 NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)SNV Uncertain significance 298466 rs140680467 10:101595933-101595933 10:99836176-99836176
31 ABCC2 NM_000392.5(ABCC2):c.3815T>C (p.Ile1272Thr)SNV Uncertain significance 298470 rs886046620 10:101603629-101603629 10:99843872-99843872
32 ABCC2 NM_000392.5(ABCC2):c.4447T>G (p.Phe1483Val)SNV Uncertain significance 298477 rs886046621 10:101610492-101610492 10:99850735-99850735
33 ABCC2 NM_000392.5(ABCC2):c.577-11G>TSNV Uncertain significance 298441 rs200883270 10:101554159-101554159 10:99794402-99794402
34 ABCC2 NM_000392.5(ABCC2):c.764G>A (p.Arg255Gln)SNV Uncertain significance 298443 rs139964853 10:101556985-101556985 10:99797228-99797228
35 ABCC2 NM_000392.5(ABCC2):c.1008G>A (p.Thr336=)SNV Uncertain significance 298444 rs761197359 10:101559104-101559104 10:99799347-99799347
36 ABCC2 NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr)SNV Uncertain significance 298462 rs138221862 10:101591869-101591869 10:99832112-99832112
37 ABCC2 NM_000392.5(ABCC2):c.3357C>T (p.Ala1119=)SNV Uncertain significance 298464 rs376532575 10:101594235-101594235 10:99834478-99834478
38 ABCC2 NM_000392.5(ABCC2):c.732G>A (p.Thr244=)SNV Uncertain significance 298442 rs754060673 10:101556953-101556953 10:99797196-99797196
39 ABCC2 NM_000392.5(ABCC2):c.1032-14C>ASNV Uncertain significance 298445 rs754368880 10:101560129-101560129 10:99800372-99800372
40 ABCC2 NM_000392.5(ABCC2):c.3988-15G>CSNV Uncertain significance 298471 rs746609972 10:101605366-101605366 10:99845609-99845609
41 ABCC2 NM_000392.5(ABCC2):c.4454A>G (p.His1485Arg)SNV Uncertain significance 298478 rs780026074 10:101610499-101610499 10:99850742-99850742
42 ABCC2 NM_000392.5(ABCC2):c.33+13A>GSNV Uncertain significance 298438 rs368321703 10:101542647-101542647 10:99782890-99782890
43 ABCC2 NM_000392.5(ABCC2):c.57G>A (p.Pro19=)SNV Uncertain significance 298439 rs772618481 10:101544388-101544388 10:99784631-99784631
44 ABCC2 NM_000392.5(ABCC2):c.1233C>T (p.Ala411=)SNV Uncertain significance 298449 rs886046619 10:101563799-101563799 10:99804042-99804042
45 ABCC2 NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro)SNV Uncertain significance 298458 rs201820826 10:101578994-101578994 10:99819237-99819237
46 ABCC2 NM_000392.5(ABCC2):c.2747+5G>ASNV Uncertain significance 298459 rs138988852 10:101590195-101590195 10:99830438-99830438
47 ABCC2 NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile)SNV Uncertain significance 298461 rs374311166 10:101591552-101591552 10:99831795-99831795
48 ABCC2 NM_000392.5(ABCC2):c.3256G>A (p.Gly1086Ser)SNV Uncertain significance 298463 rs769152380 10:101591886-101591886 10:99832129-99832129
49 ABCC2 NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg)SNV Uncertain significance 287346 rs143990242 10:101604123-101604123 10:99844366-99844366
50 ABCC2 NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)SNV Uncertain significance 288094 rs76302654 10:101579019-101579019 10:99819262-99819262

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

73
# 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

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:

36
# 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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 SLCO1B3 SLCO1B1 ATP8B1 ABCC6 ABCC5 ABCC4
2 12.44 TK1 ABCC6 ABCC4 ABCC3 ABCC2 ABCC1
3
Show member pathways
12.13 SLCO1B3 SLCO1B1 ABCC3 ABCB11
4 12.04 ABCC5 ABCC4 ABCC3 ABCC2
5
Show member pathways
12.03 SLCO1B1 ABCC5 ABCC4 ABCC3 ABCC2 ABCC1
6
Show member pathways
11.88 SLCO1B1 ABCC2 ABCB11
7
Show member pathways
11.86 SLCO1B3 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCB11
8
Show member pathways
11.72 TK1 ABCC5 ABCC4 ABCC3
9
Show member pathways
11.71 SLCO1B3 SLCO1B1 ABCC3 ABCC2
10
Show member pathways
11.67 ABCC4 ABCC3 ABCC2
11
Show member pathways
11.6 SLCO1B1 ABCC5 ABCC2 ABCC1
12 11.49 SLCO1B3 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCB11
13
Show member pathways
11.48 SLCO1B3 ABCC2 ABCC1
14 11.29 ABCC3 ABCC2 ABCB11
15
Show member pathways
11.24 ABCC2 ABCC1
16 11.22 SLCO1B3 SLCO1B1
17
Show member pathways
11.16 SLCO1B3 SLCO1B1
18 11.15 ABCC5 ABCC4 ABCC3 ABCC2 ABCC1
19 11.13 ABCC3 ABCC2
20 11.12 ABCC6 ABCC4 ABCC3 ABCC2
21 11.05 ABCC5 ABCC4
22 11.03 TK1 ABCC5 ABCC4
23 10.99 ABCC4 ABCC3 ABCC2 ABCC1
24 10.98 ABCC2 ABCC1
25 10.85 ABCC4 ABCC3 ABCC2 ABCC1
26 10.78 ABCC3 ABCC1
27 10.69 ABCC3 ABCC2 ABCC1
28 10.58 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCB11
29
Show member pathways
10.4 SLCO1B3 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCC1

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 integral component of membrane GO:0016021 10.11 SLCO1B3 SLCO1B1 ATP8B1 ABCC6 ABCC5 ABCC4
2 plasma membrane GO:0005886 10 SLCO1B3 SLCO1B1 F7 ATP8B1 ABCC6 ABCC5
3 apical plasma membrane GO:0016324 9.62 ATP8B1 ABCC6 ABCC4 ABCC2
4 integral component of plasma membrane GO:0005887 9.56 SLCO1B3 SLCO1B1 ATP8B1 ABCC5 ABCC3 ABCC2
5 intercellular canaliculus GO:0046581 9.16 ABCC2 ABCB11
6 basolateral plasma membrane GO:0016323 9.1 SLCO1B3 SLCO1B1 ABCC6 ABCC5 ABCC4 ABCC1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.76 ABCC6 ABCC4 ABCC2 ABCC1
2 transmembrane transport GO:0055085 9.65 SLCO1B3 SLCO1B1 ABCC6 ABCC5 ABCC4 ABCC3
3 xenobiotic transport GO:0042908 9.56 ABCC4 ABCC3 ABCC2 ABCC1
4 organic anion transport GO:0015711 9.55 SLCO1B3 SLCO1B1 ABCC5 ABCC3 ABCC2
5 drug transmembrane transport GO:0006855 9.54 ATP8B1 ABCC2 ABCC1
6 canalicular bile acid transport GO:0015722 9.5 ABCC3 ABCC2 ABCB11
7 phospholipid translocation GO:0045332 9.49 ATP8B1 ABCC1
8 sodium-independent organic anion transport GO:0043252 9.48 SLCO1B3 SLCO1B1
9 transepithelial transport GO:0070633 9.43 ABCC2 ABCC1
10 export across plasma membrane GO:0140115 9.4 ABCC4 ABCC1
11 bile acid and bile salt transport GO:0015721 9.1 SLCO1B3 SLCO1B1 ATP8B1 ABCC3 ABCC2 ABCB11

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.02 TK1 ATP8B1 ABCC6 ABCC5 ABCC4 ABCC3
2 transmembrane transporter activity GO:0022857 9.73 ABCC6 ABCC3 ABCC2 ABCC1
3 xenobiotic transmembrane transporter activity GO:0042910 9.56 ABCC4 ABCC3 ABCC2 ABCC1
4 ATPase activity GO:0016887 9.56 ABCC6 ABCC5 ABCC4 ABCC3 ABCC2 ABCC12
5 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.49 SLCO1B3 SLCO1B1
6 bile acid transmembrane transporter activity GO:0015125 9.48 SLCO1B3 SLCO1B1
7 efflux transmembrane transporter activity GO:0015562 9.46 ABCC4 ABCC1
8 organic anion transmembrane transporter activity GO:0008514 9.46 SLCO1B3 ABCC5 ABCC3 ABCC2
9 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.4 ABCC2 ABCC1
10 bile acid-exporting ATPase activity GO:0015432 9.37 ABCC3 ABCB11
11 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.23 ABCC6 ABCC5 ABCC4 ABCC3 ABCC2 ABCC12

Sources for Dubin-Johnson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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