Hepatolenticular Degeneration
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.
Drugs by status
Approved for this indication (5)
Phase 4 trials (2)
Phase 3 trials (3)
Phase 2 trials (4)
Organizations
Organization Involved with Phase 4 Indications (3)
Organization Involved with Phase 3 Indications (5)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (5)