Dubin-Johnson syndrome

What causes Dubin-Johnson syndrome (DJS)?

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.

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.

Last updated on 05-01-20

How is Dubin-Johnson syndrome (DJS) inherited?

DJS is inherited in an autosomal recessive manner. 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 on 05-01-20

Can Dubin-Johnsons syndrome (DJS) be passed along to another individual through sexual intercourse?

No, DJS is caused by a gene mutation that is passed down (inherited) through families. It is not a contagious condition and cannot be passed along to another individual through sexual intercourse.

Last updated on 05-01-20

What is Dubin-Johnson syndrome?

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.

Last updated on 05-01-20

Name: American Association for the Study of Liver Diseases 1001 North Fairfax, 4th floor
Alexandria, VA, 22314, United States
Phone: 703–299–9766 Fax : 703–299–9622 Email: aasld@aasld.org Url: http://www.aasld.org/
Name: American Liver Foundation 39 Broadway, Suite 2700
New York, NY, 10006, United States
Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: https://liverfoundation.org/for-patients/contact-us/ Url: https://liverfoundation.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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