Wilson disease

Common Name(s)

Wilson disease

Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body.  The buildup of copper leads to damage in the kidneys, brain, and eyes.  Although copper accumulation begins at birth, symptoms of the disorder typically appear later in life.  Wilson disease is caused by a mutation of the ATP7B gene. People who have Wilson disease cannot release copper from the liver at a normal rate, causing a buildup of copper in the body.  This condition is inherited in an autosomal recessive manner. Treatment includes removing excess copper from the body, reducing intake of foods that are rich in copper and treating any liver or central nervous system damage. Lifelong treatment is required.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

http://www.wilsonsdisease.org

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

http://www.wilsonsdisease.org

Last Updated: 10 Jan 2013

View Details

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wilson disease" returned 120 free, full-text research articles on human participants. First 3 results:

Bilateral hypertrophic olivary degeneration in Wilson disease.
 

Author(s): Josephin Otto, Peter Guenther, Karl-Titus Hoffmann

Journal: Korean J Radiol. ;14(2):316-20.

 

Hypertrophic olivary degeneration resulting from lesions of the dento-rubro-olivary pathway, also called Guillain-Mollaret-triangle, has been described previously in a number of cases. Reports about bilateral hypertrophic olivary degeneration of the inferior olivary nuclei are very ...

Last Updated: 13 Mar 2013

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Fulminant Wilson disease.
 

Author(s): Michael H Rosove, Neeharika Srivastava

Journal: Blood. 2012 Oct;120(16):3171.

 

Last Updated: 14 Dec 2012

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Analysis of clinical and biochemical spectrum of Wilson disease patients.
 

Author(s): Sumreena Mansoor, Abdul Khaliq Naveed, Asifa Majeed

Journal: Indian J Pathol Microbiol. ;55(3):365-9.

 

Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages five to 35 but it can vary from two years to 72 years.

Last Updated: 3 Oct 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wilson disease" returned 7 free, full-text review articles on human participants. First 3 results:

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 

Author(s): P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal: J. Med. Genet.. 2007 Nov;44(11):673-88.

 

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting ...

Last Updated: 2 Nov 2007

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[Wilson disease: an update].
 

Author(s): Jeong Kee Seo

Journal: Korean J Hepatol. 2006 Sep;12(3):333-63.

 

Wilson disease (WD) is an autosomal recessive disorder of copper transport that results in accumulation of copper primarily in the liver, the brain and the cornea. WD is the most common inherited liver disease with the prevalence of 1: 37,000 in the pediatric population in Korea. ...

Last Updated: 25 Sep 2006

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[Wilson disease: clinical and biological aspects].
 

Author(s): P Chappuis, M Bost, M Misrahi, J C Duclos-Vallée, F Woimant

Journal: Ann. Biol. Clin. (Paris). ;63(5):457-66.

 

Wilson disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene (chromosome 13, MIM# 277900). The discovery of the gene allowed a better understanding of cytosolic copper trafficking and its relationship with ceruloplasmin ...

Last Updated: 18 Oct 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inhibitory rTMS in Dystonic Wilson Patients
 

Status: Recruiting

Condition Summary: Wilson Disease; Movement Disorders; Repetitive Transcranial Magnetic Stimulation

 

Last Updated: 11 Apr 2014

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Last Updated: 10 Dec 2013

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