ASD Libraries: G08: Science Genetic Disorders: Wilson's

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Wilson Disease
Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction and death. Early diagnosis and treatment may prevent serious long-term disability and life-threatening complications.
Wilson disease is caused by changes (variants) of the ATP7B gene. Inheritance is autosomal recessive.
Wilson Disease (Credo)
Wilson disease (WD), or hepatolenticular degeneration, is a rare autosomal recessive metabolic disease linked to Chromosome 13 (Schilsky & Sternlieb,). It is caused by two mutant alleles of a putative copper transporter, STP7B. As a result of increased copper accumulation in the liver, brain, and corneal tissue, individuals with Wilson disease often suffer from cirrhosis of the liver, bilateral softening and degeneration of the basal ganglia, and brown pigmented rings in the periphery of the cornea, referred to as Kayser-Fleischer rings (International Hepatology Informatics Group,; Sherlock & Dooley,).
Wilson Disease Association
Wilson disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain.