Wilson's disease

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Wilson's disease
TermWilson's disease
Short definitionWilson's disease - (pronounced) (WIL-sun dih-ZEEZ) rare inherited condition that causes too much copper to build up in the body. The excess copper is stored in the body's tissues and organs, particularly the liver, brain and eyes. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


Wilson's disease - (pronounced) (WIL-sun dih-ZEEZ) rare inherited condition that causes too much copper to build up in the body. The excess copper is stored in the body's tissues and organs, particularly the liver, brain and eyes. This can lead to liver disease, central nervous system (brain and spinal cord) problems, and mental health problems. Signs and symptoms of Wilson disease include yellowing of the skin and whites of the eyes, a gold or brown ring around the colored part of the eyes, swelling of the abdomen and legs, tiredness, loss of appetite, trouble speaking 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 teenagers and young adults. It's a kind of copper storage disease. Also called hepatolenticular degeneration

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