Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Wilson disease

Synonym(s) Hepatolenticular degeneration
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset Childhood
  • E83.0
  • C0019202
  • D006527
  • 10019819


Wilson disease is an autosomal recessive disorder characterised by the toxic accumulation of copper, mainly in the liver and central nervous system. It is a rare disease with an estimated incidence in France of between 1/30 000 and 1/100 000 new cases per year. The prevalence is estimated at 1 in 25 000. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. Diagnosis depends the clinical and phenotypic evidence for the disease and on the detection of the associated genetic anomalies. The disease results from mutations in the ATP7B gene on chromosome 13. The discovery of the gene has led to a better understanding of cytosolic copper trafficking and its relationship with ceruloplasmin synthesis. This disease can be efficiently treated by chelation and zinc therapy. Liver transplantation is the recommended therapy for patients with fulminant hepatitis, or in those with relentless progression of hepatic dysfunction despite drug therapy.

Expert reviewer(s)

  • Dr Jean-Charles DUCLOS-VALLEE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Summary information
Review article
Clinical practice guidelines
Article for general public
Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.