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

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.

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

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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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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 127 free, full-text research articles on human participants. First 3 results:

Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
 

Author(s): Elena V Polishchuk, Mafalda Concilli, Simona Iacobacci, Giancarlo Chesi, Nunzia Pastore, Pasquale Piccolo, Simona Paladino, Daniela Baldantoni, Sven C D van IJzendoorn, Jefferson Chan, Christopher J Chang, Angela Amoresano, Francesca Pane, Piero Pucci, Antonietta Tarallo, Giancarlo Parenti, Nicola Brunetti-Pierri, Carmine Settembre, Andrea Ballabio, Roman S Polishchuk

Journal: Dev. Cell. 2014 Jun;29(6):686-700.

 

Copper is an essential yet toxic metal and its overload causes Wilson disease, a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes. However, the trafficking mechanisms of ATP7B remain ...

Last Updated: 25 Jun 2014

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Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
 

Author(s): Lelita T Braiterman, Amrutha Murthy, Samuel Jayakanthan, Lydia Nyasae, Eric Tzeng, Grazyna Gromadzka, Thomas B Woolf, Svetlana Lutsenko, Ann L Hubbard

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Apr;111(14):E1364-73.

 

Wilson disease (WD) is a monogenic autosomal-recessive disorder of copper accumulation that leads to liver failure and/or neurological deficits. WD is caused by mutations in ATP7B, a transporter that loads Cu(I) onto newly synthesized cupro-enzymes in the trans-Golgi network (TGN) ...

Last Updated: 9 Apr 2014

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Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.
 

Author(s): Kuerbanjiang Abuduxikuer, Jian-She Wang

Journal:

 

There is no official consensus regarding zinc therapy in pre-symptomatic children with Wilson Disease (WD); more data is needed.

Last Updated: 29 Jan 2014

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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 6 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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Molecular mechanism of copper transport in Wilson disease.
 

Author(s): Negah Fatemi, Bibudhendra Sarkar

Journal: Environ. Health Perspect.. 2002 Oct;110 Suppl 5():695-8.

 

Wilson disease is an autosomal recessive disorder of copper metabolism. The Wilson disease protein is a putative copper-transporting P-type ATPase, ATP7B, whose malfunction results in the toxic accumulation of copper in the liver and brain, causing the hepatic and/or neurological ...

Last Updated: 11 Nov 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
 

Status: Not yet recruiting

Condition Summary: Wilson Disease

 

Last Updated: 22 Oct 2014

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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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