Hepato-lenticular degeneration
Definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Synonyms (terms occurring on more labels are shown first): Wilson's disease, hepatolenticular degeneration
More information: PubMed search and possibly Wikipedia
Drugs with this indication |
License: Except as otherwise noted, this work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 4.0 License. For commercial use or customized versions, please contact biobyte solutions GmbH.
Disclaimer: The content of this database of side effects (adverse drug reactions) is intended for educational and scientific research purposes only. It is not intended as a substitute for professional medical advice, diagnosis or treatment.