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Disease Profile

Dubin-Johnson syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

DJS; Hyperbilirubinemia 2; Chronic Idiopathic Jaundice;


Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders


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]


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormal urinary color
Abnormal urinary colour
Abnormal urine color

[ more ]

Biliary tract abnormality
Conjugated hyperbilirubinemia
Yellow skin
Yellowing of the skin

[ more ]

30%-79% of people have these symptoms
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

Abnormality of coagulation

[ more ]

Enlarged liver
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance


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] 


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.


    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

      Learn more

      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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Dubin-Johnson syndrome. This website is maintained by the National Library of Medicine.
      • 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.


          1. Dubin Johnson Syndrome. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/dubin-johnson-syndrome/. Accessed 6/17/2016.
          2. Simon S Rabinowitz. Dubin-Johnson Syndrome. Medscape. Jun 24, 2015; https://emedicine.medscape.com/article/173517-overview.
          3. Dugdale, DC. Dubin-Johnson syndrome. MedlinePlus. 8/17/2014; https://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.

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