|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed March 2009
What is Dubin-Johnson syndrome?
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johnson syndrome, but some people also experience weakness, mild upper abdominal pain, nausea, and/or vomiting.
How common is Dubin-Johnson syndrome?
Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, it is more common among Iranian and Moroccan Jews living in Israel. Studies suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. Additionally, several people in the Japanese population have been diagnosed with Dubin-Johnson syndrome. This condition appears to be less common in other countries.
What genes are related to Dubin-Johnson syndrome?
Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene. The ABCC2 gene provides instructions for making a protein called multidrug resistance protein 2 (MRP2). This protein acts as a pump to transport substances out of the liver, kidneys, intestine, or placenta so they can be excreted from the body. For example, MRP2 transports a substance called bilirubin out of liver cells and into bile (a digestive fluid produced by the liver). Bilirubin is produced during the breakdown of old red blood cells and has an orange-yellow tint.
ABCC2 gene mutations lead to a version of MRP2 that cannot effectively pump substances out of cells. These mutations particularly affect the transport of bilirubin into bile. As a result, bilirubin accumulates in the body, causing a condition called hyperbilirubinemia. The buildup of bilirubin in the body causes the yellowing of the skin and whites of the eyes seen in people with Dubin-Johnson syndrome.
Read more about the ABCC2 gene.
How do people inherit Dubin-Johnson syndrome?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of Dubin-Johnson syndrome?
These resources address the diagnosis or management of Dubin-Johnson syndrome and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about Dubin-Johnson syndrome?
You may find the following resources about Dubin-Johnson syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for Dubin-Johnson syndrome?
What if I still have specific questions about Dubin-Johnson syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding Dubin-Johnson syndrome?
autosomal ; autosomal recessive ; bile ; bilirubin ; breakdown ; cell ; chronic ; digestive ; gene ; hyperbilirubinemia ; idiopathic ; inherited ; intestine ; jaundice ; placenta ; population ; protein ; recessive ; symptom ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.