National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dubin-Johnson syndrome


Other Names:
DJS; Hyperbilirubinemia 2; Chronic Idiopathic Jaundice; DJS; Hyperbilirubinemia 2; Chronic Idiopathic Jaundice; Conjugated Hyperbilirubinemia See More
Categories:
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.[1] 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.[2][3] 
Last updated: 6/17/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal urinary color
Abnormal urinary colour
Abnormal urine color
[ more ] 		0012086
Biliary tract abnormality 0001080
Conjugated hyperbilirubinemia 0002908
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
30%-79% of people have these symptoms
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormality of coagulation 0001928
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fever 0001945
Hepatomegaly
Enlarged liver
0002240
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020
DJS is a genetic disorder caused by mutations in the ABCC2 gene. The ABCC2 gene codes for a protein called multidrug resistance protein 2 (MRP2). MRP2 transports substances out of cells. It is primarily found in the liver, but can also be found in the kidneys, intestine, and placenta during pregnancy.[4]

Mutations in the ABCC2 gene affect the structure and function of the MRP2 protein. This may disrupt the body's ability to rid itself of bilirubin, resulting in a build up.[4] 
Last updated: 6/17/2016
DJS is inherited in an autosomal recessive manner.[5] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier
Last updated: 6/17/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis is another form of mainly conjugated hyperbilirubinemia, Rotor syndrome (RT; see this term).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Dubin-Johnson syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Dubin-Johnson syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dubin-Johnson syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have Dubin-Johnson syndrome. Can this condition be passed along to another individual through sexual intercourse? See answer


  1. Dubin Johnson Syndrome. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/dubin-johnson-syndrome/. Accessed 6/17/2016.
  2. Simon S Rabinowitz. Dubin-Johnson Syndrome. Medscape. Jun 24, 2015; http://emedicine.medscape.com/article/173517-overview.
  3. Dugdale, DC. Dubin-Johnson syndrome. MedlinePlus. 8/17/2014; http://www.nlm.nih.gov/medlineplus/ency/article/000242.htm.
  4. ABCC2. Genetics Home Reference. March 2009; https://ghr.nlm.nih.gov/gene/ABCC2. Accessed 6/17/2016.
  5. Dubin-Johnson syndrome. Genetics Home Reference. March 2009; https://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome. Accessed 6/17/2016.