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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 45 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
5
(32.0%)
18979899
[The Dubin-Johnson syndrome: case report and review of literature].
Bosia JD, D'Ascenzo MV, Borzi S, Cozzi S, Defelitto JR, Curciarello JO.
Acta Gastroenterol Latinoam. 2008;38(3):194-8.
Jaundice Hyperbilirubinemia
Adult Conjunctival Diseases Coproporphyrins Homo sapiens Hyperbilirubinemia, Hereditary Jaundice, Chronic Idiopathic Liver Male Syndrome
5
(32.0%)
18460254
Dubin-Johnson syndrome.
Nisa AU, Ahmad Z.
J Coll Physicians Surg Pak. 2008;18(3):188-9.
Jaundice Conjugated hyperbilirubinemia
ABCC2
Adult Biopsy Chromosomes, Human, Pair 10 Gene Deletion Homo sapiens Hyperbilirubinemia Icterus Jaundice, Chronic Idiopathic Liver Male Multidrug Resistance-Associated Proteins
5
(32.0%)
16012956
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Cebecauerova D, Jirasek T, Budisova L, Mandys V, Volf V, Novotna Z, Subhanova I, Hrebicek M, Elleder M, Jirsa M.
Gastroenterology. 2005;129(1):315-20.
Jaundice Hyperbilirubinemia
ABCC2 UGT1A1
c|DEL|4292|CA c|DEL|| c|INS|1256|CT c|SUB|T|-3279|G
Child, Preschool Glucuronosyltransferase Homo sapiens Hyperbilirubinemia, Hereditary Icterus Jaundice, Chronic Idiopathic Male Membrane Transport Proteins Multidrug Resistance-Associated Proteins
5
(32.0%)
15565411
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease.
Machida I, Wakusawa S, Hayashi H, Suzuki S, Yano M.
J Gastroenterol. 2004;39(9):896-9.
Jaundice Hyperbilirubinemia
Bilirubin Hepatocyte Homo sapiens Iron Overload Jaundice, Chronic Idiopathic Lysosomes Male Middle Aged RNA, Viral Serum Albumin
5
(32.0%)
1336797
Hepatobiliary complications of oral contraceptives.
Lindberg MC.
J Gen Intern Med. 1992;7(2):199-209.
Jaundice Hyperbilirubinemia
Adult Biliary Tract Diseases Chemical and Drug Induced Liver Injury Cholelithiasis Cholestasis Contraceptives, Oral Females Homo sapiens Liver Vascular Diseases
5
(32.0%)
472798
Familial nonhemolytic jaundice with free and conjugated hyperbilirubinemia, elevated serum bile acids, and liver pigmentation.
Mihas AA, Kirby JD, Hirschowitz BI.
South Med J. 1979;72(8):1014-6.
Jaundice Hyperbilirubinemia
Bile Acids and Salts Child Females Homo sapiens Hyperbilirubinemia Jaundice, Chronic Idiopathic Liver Male Pigments, Biological
17
(31.2%)
24834177
(4017419)
Dubin-Johnson syndrome presenting after acute viral hepatitis.
Lahmi F, Roshani M, Khosravi K, Azizi M, Mohebbi SR, Zali MR.
Gastroenterol Hepatol Bed Bench. 2011;4(3):164-6.
Intrahepatic cholestasis Hyperbilirubinemia
18
(26.5%)
15143928
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy.
Shikada Y, Matsumata T, Suehiro T, Sugimachi K.
Hepatogastroenterology. 2004;51(57):833-6.
Cirrhosis Hyperbilirubinemia
Females Hepatectomy Homo sapiens Jaundice, Chronic Idiopathic Male Middle Aged Remission Induction
19
(25.8%)
24228133
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case.
Li P, Wang Y, Zhang J, Geng M, Li Z.
Int J Clin Exp Pathol. 2013;6(11):2636-9.
Jaundice
Diagnostic Errors Females Genetic Predisposition to Disease Hemangioma, Cavernous Hepatectomy Heredity Homo sapiens Icterus Jaundice, Chronic Idiopathic Male Middle Aged Neoplasms, Multiple Primary Phenotype Predictive Value of Tests X-Ray Computed Tomography
19
(25.8%)
23065530
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes.
Devgun MS, El-Nujumi AM, O'Dowd GJ, Barbu V, Poupon R.
Ann Clin Biochem. 2012;49(Pt 6):609-12.
Jaundice
ABCC2
Homo sapiens Jaundice, Chronic Idiopathic Male Middle Aged Multidrug Resistance-Associated Proteins Mutation
        

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