Wilson disease is characterized by hepatic symptoms (recurrent jaundice; chronic liver disease; fatty liver; simple, acute, self-limited hepatitis-like illness; autoimmune hepatitis; fulminant hepatic failure; and hemolytic anemia), neurologic presentation (movement disorders or spastic dystonia disorders) and psychiatric disturbances (depression, neurotic behaviors, disorganization of personality, and intellectial deterioration). Another common finding is Kayser-Fleischer rings (copper deposits in the periphery of the cornea), which are observed in approximately 50-60% of individuals with liver disease and in 90% of individuals with either psychiatric disturbances or neurologic findings. Currently the only gene associated with Wilson disease is ATP7B (OMIM # 606882) located at 13q14.3.
Deletions and/or duplications of the ATP7B gene as causative of Wilson's disease have been reported.
Contact the Wilson Disease Association (www.wilsonsdisease.org) for more information and support.