IllnessMorbus Wilson

NGS +

Sanger

Wilson disease (hepatolenticular degeneration) leads to excess copper deposition in the body and primarily affects the liver and basal ganglia. In addition to liver-related symptoms, motor and speech disorders and personality changes, including hallucinations, may also occur lateron. Most patients develop liver dysfunction by the age of 10, rarely haemolytic anaemia. Lateron osseo-muscular manifestations develop due to excessive copper deposition. The neuropsychiatric features appear in the 3rd/4th decade; if left untreated the condition is fatal. Wilson's disease is inherited autosomal recessively by mutations in the ATP7B gene, 98% of which can be detected by DNA sequencing, the rest by deletion/duplication analysis. Individual mutations show reduced penetrance. An inconspicuous genetic finding practically rules out the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1512/

• Alias: Hepatolenticular degeneration, copper storage disease (ATP7B)
• Alias: Wilson disease (ATP7B)