Hepatolenticular degeneration
| Hepatolenticular degeneration | |
|---|---|
| Term | Hepatolenticular degeneration |
| Short definition | hepatolenticular degeneration (heh-PA-toh-len-TIH-kyoo-ler dee-JEH-neh-RAY-shun) A rare inherited condition that causes excess copper buildup in the body. The excess copper is stored in the body's tissues and organs, particularly the liver, brain and eyes. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
hepatolenticular degeneration - (pronounced) (heh-PA-toh-len-TIH-kyoo-ler dee-JEH-neh-RAY-shun) A rare inherited condition that causes excess copper buildup 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 hepatolenticular degeneration 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, difficulty speaking and swallowing, uncontrolled movements or muscle stiffness, anxiety, depression and mood swings. Hepatolenticular degeneration 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 Wilson's disease
External links
- Medical encyclopedia article on Hepatolenticular degeneration
- Wikipedia's article - Hepatolenticular degeneration
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