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Wilson disease

Reviewed February 2007

What is Wilson disease?

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Typically, signs and symptoms of Wilson disease first appear between the ages of 6 and 40, but most often begin during the teenage years.

Liver disease is usually the initial feature of Wilson disease in people between the ages of 6 and 45. Signs and symptoms of liver disease include yellowing of the skin or the whites of the eye (jaundice), fatigue, loss of appetite, and abdominal swelling. Psychiatric or nervous system problems commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, trembling, difficulty walking, speech problems, deteriorating school work, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits form a green-to-brownish ring, called the Kayser-Fleischer ring, around the cornea (the front surface of the eye). Abnormalities in eye movements, such as the restricted ability to gaze upwards, may also occur.

How common is Wilson disease?

Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.

What genes are related to Wilson disease?

Mutations in the ATP7B gene cause Wilson disease.

Normal variations in the PRNP gene modify the course of Wilson disease.

The ATP7B gene provides instructions for making a protein that plays a role in the transport of copper from the liver to other parts of the body. This protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.

A normal variation in the PRNP gene may delay the age of onset of Wilson disease and affect the type of symptoms that develop. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues. This protein also appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, the protein building block (amino acid) methionine or valine is used. Among people who have mutations in the ATP7B gene, it appears that the onset of symptoms of Wilson disease is delayed by several years if they have methionine (instead of valine) at position 129 in the prion protein. Research findings also suggest that methionine, instead of valine, at position 129 may be associated with an increased occurrence of symptoms that affect the nervous system, particularly tremors. Larger studies are needed, however, before the effects of this PRNP variation on Wilson disease can be established.

How do people inherit Wilson disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for Wilson disease?

You may find information on treatment or management of Wilson disease or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Wilson disease?

You may find the following resources about Wilson disease helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Wilson's disease (http://www.nlm.nih.gov/medlineplus/ency/article/000785.htm)
    • Health Topic: Wilson Disease (http://www.nlm.nih.gov/medlineplus/wilsondisease.html)
  • Additional NIH Resources - National Institutes of Health
    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.224)
    • National Institute of Diabetes and Digestive and Kidney Diseases (http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/index.htm)
    • National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm)
  • Educational resources - Information pages
    • American Association for the Study of Liver Disease: Diagnosis and Treatment of Wilson Disease (http://www.aasld.org/practiceguidelines/Documents/WilsonDisease2008.pdf)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,228/)
    • Mayo Clinic (http://www.mayoclinic.org/wilsons-disease/index.html)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec12/ch155/ch155c.html#sb155_2)
    • New York Online Access to Health (NOAH) (http://www.noah-health.org/en/kidver/liver/diseases/wilsons.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=905)
    • Swedish National Board of Health and Welfare (http://www.socialstyrelsen.se/en/rarediseases/Wilsons+disease.htm)
    • The Cleveland Clinic (http://www.clevelandclinicmeded.com/diseasemanagement/gastro/wilsons/wilsons.htm)
  • Patient support - For patients and families
    • American Liver Foundation (http://www.liverfoundation.org/education/info/wilson/)
    • Canadian Liver Foundation (http://www.liver.ca/liver_disease/childrens_liver_diseases/wilson_disease.aspx)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Wilson's+Disease)
    • We Move Organization (http://www.wemove.org/wil/)
    • Wilson's Disease Association (http://www.wilsonsdisease.org)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wilson)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2296)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22wilson+disease%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Hepatolenticular+Degeneration[MAJR])+AND+(Wilson+disease[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=720+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Disorders of Copper Transport (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=126)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277900)

What other names do people use for Wilson disease?

  • Copper storage disease
  • Hepatolenticular degeneration syndrome
  • WD
  • Wilson's disease

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Wilson disease?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Wilson disease?

acids ; amino acid ; anxiety ; autosomal ; autosomal recessive ; cell ; cornea ; depression ; gene ; jaundice ; Kayser-Fleischer ring ; mutation ; nervous system ; prion ; prion proteins ; protein ; recessive ; sign ; symptom ; syndrome ; teenage ; tissue ; toxic ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol. 2006 Sep;2(9):482-93. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16932613)
  • Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis. 2004 Dec;19(3-4):229-39. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15554419)
  • Gitlin JD. Wilson disease. Gastroenterology. 2003 Dec;125(6):1868-77. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14724838)
  • Kitzberger R, Madl C, Ferenci P. Wilson disease. Metab Brain Dis. 2005 Dec;20(4):295-302. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16382340)
  • Langner C, Denk H. Wilson disease. Virchows Arch. 2004 Aug;445(2):111-8. Epub 2004 Jun 17. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15205951)
  • Pandit A, Bavdekar A, Bhave S. Wilson's disease. Indian J Pediatr. 2002 Sep;69(9):785-91. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12420912)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2007
Published: May 4, 2009