Dubin-Johnson syndrome

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.



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Narrow down the case reports



Total: 45 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(49.9%)
16835471
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile.
Kaneko M, Ohni M, Sugiyama Y, Mizukawa S, Toba K, Sakamoto A, Hata Y.
J Atheroscler Thromb. 2006;13(3):158-61.
Acanthocytosis Pleural effusion Malnutrition
Abetalipoproteinemia Acanthocytes Autopsy Females Homo sapiens Inflammation Jaundice, Chronic Idiopathic Lipid Metabolism Lipids Malnutrition Pneumonia
2
(43.3%)
12118928
Association of Dubin-Johnson syndrome and portal vein thrombosis.
Makharia GK, Garg PK, Gupta SD, Tandon RK.
Indian J Gastroenterol. 2002;21(3):118-9.
Jaundice Conjugated hyperbilirubinemia Portal vein thrombosis
Adult Hemophilia A Homo sapiens Jaundice, Chronic Idiopathic Male Point Mutation Portal Hypertension Venous Thrombosis
3
(38.4%)
17464171
[A case with Rotor syndrome in hyperbilirubinemic family].
Jung MK, Bae MH, Kim DJ, Lee WS, Cho CM, Tak WY, Kweon YO.
Korean J Gastroenterol. 2007;49(4):251-5.
Jaundice Hepatosplenomegaly Hyperbilirubinemia
Adult Coloring Agents Homo sapiens Hyperbilirubinemia, Hereditary Jaundice, Chronic Idiopathic Liver Liver Function Tests Male Radionuclide Imaging Radiopharmaceuticals
4
(35.2%)
17183837
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases.
Rastogi A, Krishnani N, Pandey R.
Indian J Pathol Microbiol. 2006;49(4):500-4.
Jaundice Fever Lymphadenitis
Adult Biopsy Child Females Hepatocyte Homo sapiens Hyperbilirubinemia Jaundice, Chronic Idiopathic Liver Male Middle Aged Pigmentation
5
(32.0%)
31016076
A Case of Dubin-Johnson Syndrome in Pregnancy.
Gupta A, Tiwari P, Sachdeva P.
Cureus. 2019;11(2):e4048.
Jaundice Conjugated hyperbilirubinemia
5
(32.0%)
30675866
[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].
Meng LL, Qiu JW, Lin WX, Song YZ.
Zhongguo Dang Dai Er Ke Za Zhi. 2019;21(1):64-70.
Jaundice Conjugated hyperbilirubinemia
c|SUB|A|3988-2|T c|SUB|C|3825|G;RS#:554976086 p|SUB|Y|1275|X;RS#:554976086
Bile Acids and Salts Bilirubin Homo sapiens Icterus Infant Jaundice, Chronic Idiopathic Male Multidrug Resistance-Associated Proteins
5
(32.0%)
29032691
Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.
Baranguan Castro ML, Garcia Romero R, Miramar Gallart MD.
Rev Esp Enferm Dig. 2017;109(11):801-802.
Jaundice Conjugated hyperbilirubinemia
ABCC2
Adult Appendicitis Homo sapiens Hyperbilirubinemia Jaundice, Chronic Idiopathic Male Multidrug Resistance-Associated Proteins Postoperative Complications
5
(32.0%)
28923092
(5604299)
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.
Kularatnam GAM, Warawitage D, Vidanapathirana DM, Jayasena S, Jasinge E, de Silva N, Liyanarachchi KLAMS, Wickramasinghe P, Devgun MS, Barbu V, Lascols O.
BMC Res Notes. 2017;10(1):487.
Jaundice Conjugated hyperbilirubinemia
p|SUB|V|444|A;RS#:2287622 p|SUB|W|709|R;RS#:764958537
Base Sequence Biopsy Child, Preschool Exons Family Females Hepatocyte Homo sapiens Intrahepatic Cholestasis Jaundice, Chronic Idiopathic Liver Pregnancy Complications Sequence Analysis, DNA Sri Lanka
5
(32.0%)
26264947
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome.
Alpana M, Daga MK, Aggarwal S, Nidhi A.
BMJ Case Rep. 2015;2015:.
Jaundice Hyperbilirubinemia
ABCC2
Adult Antitubercular Agents Cholagogues and Choleretics Combination Drug Therapy Females Homo sapiens Jaundice, Chronic Idiopathic Tuberculosis, Meningeal
5
(32.0%)
19881259
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.
Kanda D, Takagi H, Kawahara Y, Yata Y, Takakusagi T, Hatanaka T, Yoshinaga T, Iesaki K, Kashiwabara K, Higuchi T, Mori M, Hirota T, Higuchi S, Ieiri I.
Drug Metab Pharmacokinet. 2009;24(5):464-8.
Jaundice Hyperbilirubinemia
ABCC2
Base Sequence Females Homo sapiens Jaundice, Chronic Idiopathic Molecular Sequence Data Multidrug Resistance-Associated Proteins Sequence Deletion Single Nucleotide Polymorphism
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000952 Jaundice Very frequent (99-80%)
HP:0001080 Biliary tract abnormality Very frequent (99-80%)
HP:0001392 Abnormality of the liver Very frequent (99-80%)
HP:0002908 Conjugated hyperbilirubinemia Very frequent (99-80%)
HP:0012086 Abnormal urinary color Very frequent (99-80%)
HP:0004295 Abnormality of the gastric mucosa Frequent (79-30%)
HP:0001928 Abnormality of coagulation Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0002027 Abdominal pain Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0012378 Fatigue Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 19

HPO ID Term # of case reports
HP:0002908 Conjugated hyperbilirubinemia 13
HP:0000952 Jaundice 6
HP:0001396 Cholestasis 5
HP:0002904 Hyperbilirubinemia 4
HP:0001082 Cholecystitis 2
HP:0006562 Viral hepatitis 2
HP:0001081 Cholelithiasis 1
HP:0001394 Cirrhosis 1
HP:0001409 Portal hypertension 1
HP:0001733 Pancreatitis 1
HP:0001927 Acanthocytosis 1
HP:0002090 Pneumonia 1
HP:0002586 Peritonitis 1
HP:0002621 Atherosclerosis 1
HP:0003003 Colon cancer 1
HP:0004395 Malnutrition 1
HP:0011980 Cholesterol gallstones 1
HP:0012115 Hepatitis 1
HP:0030242 Portal vein thrombosis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ABCC2 ATP binding cassette subfamily C member 2 1244