Skip to main content
An official website of the United States government
Español
Government Funding Lapse
Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.

The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov.

Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

Wilson disease

(WIL-sun dih-ZEEZ)
A rare, inherited disorder in which too much copper builds up in the body. The extra copper is stored in the body’s tissues and organs, especially in the liver, brain, and eyes. This can cause liver disease, central nervous system (brain and spinal cord) problems, and mental problems. Signs and symptoms of Wilson disease include yellowing of the skin and the whites of the eyes, a gold or brown ring around the colored part of the eyes, swelling in the abdomen and legs, fatigue, loss of appetite, problems with speech and swallowing, uncontrolled movements or muscle stiffness, anxiety, depression, and mood swings. Wilson disease is caused by mutations (changes) in the ATP7B gene. It is a genetic disorder that is inherited in an autosomal recessive manner and is usually diagnosed in teens and young adults. It is a type of copper storage disease. Also called hepatolenticular degeneration.
More Information
Drawing showing an autosomal recessive inheritance pattern between a father, mother, and their four children: an unaffected father (carrier) with a mutated gene and a normal gene on a chromosome pair; an unaffected mother (carrier) with a mutated gene and a normal gene; an unaffected daughter with two normal genes; an unaffected son (carrier) with a mutated gene and a normal gene; an unaffected daughter (carrier) with a mutated gene and a normal gene; and an affected son with two mutated genes.Enlarge this image in new window
Autosomal recessive inheritance is a way a genetic trait or condition can be passed down from parent to child. A genetic condition can occur when the child inherits one copy of a mutated (changed) gene from each parent. The parents of a child with an autosomal recessive condition usually do not have the condition. Unaffected parents are called carriers because they each carry one copy of the mutated gene and can pass it to their children.
Search NCI's Dictionary of Cancer Terms