National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Wilson disease

Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances.[1][2] It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner.[3][4] Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.[1][4]
Last updated: 2/5/2015
Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling of the legs and/or abdomen; weight loss; nausea and vomiting; and/or fatigue. Unfortunately, some people may not experience any signs until they suddenly develop acute liver failure.[5][1][2]

Affected people often experience a variety of neurologic (central nervous system-related) signs and symptoms, as well. Neurologic features often develop after the liver has retained a significant amount of copper; however, they have been seen in people with little to no liver damage. These symptoms may include tremors; muscle stiffness; and problems with speech, swallowing and/or physical coordination. Almost all people with neurologic symptoms have Kayser-Fleisher rings - a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp.[5][1][2]

About a third of those with Wilson disease will also experience psychiatric (mental health-related) symptoms such as abrupt personality changes, depression accompanied by suicidal thoughts, anxiety, and/or psychosis.[5][1][2]

Other signs and symptoms may include:[5][1][2]
  • Menstrual period irregularities, increased risk of miscarriage and infertility in women
  • Anemia
  • Easy bruising and prolonged bleeding
  • Kidney stones
  • Early-onset arthritis
  • Osteoporosis

Last updated: 2/5/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 62 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities
[ more ] 		0001155
Abnormality of the menstrual cycle 0000140
Acute hepatic failure
Acute liver failure
0006554
Acute hepatitis
Acute liver inflammation
0200119
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Anemia
Low number of red blood cells or hemoglobin
0001903
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Back pain 0003418
Bone pain 0002653
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Clumsiness 0002312
Depressivity
Depression
0000716
Difficulty walking
Difficulty in walking
0002355
Dysarthria
Difficulty articulating speech
0001260
Elevated hepatic transaminase
High liver enzymes
0002910
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hepatomegaly
Enlarged liver
0002240
Hypersexuality
Sex addiction
0030214
Increased body weight 0004324
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Joint swelling 0001386
Kayser-Fleischer ring 0200032
Pathologic fracture
Spontaneous fracture
0002756
Proximal muscle weakness in lower limbs 0008994
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
Weight loss 0001824
5%-29% of people have these symptoms
Hepatocellular carcinoma 0001402
Polyneuropathy
Peripheral nerve disease
0001271
Percent of people who have these symptoms is not available through HPO
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] 		0003355
Atypical or prolonged hepatitis
Atypical or prolonged liver inflammation
0200122
Autosomal recessive inheritance 0000007
Chondrocalcinosis
Calcium deposits in joints
0000934
Coma 0001259
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Drooling
Dribbling
0002307
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Dystonia 0001332
Esophageal varix
Enlarged vein in esophagus
0002040
Glycosuria
Glucose in urine
0003076
Hemolytic anemia 0001878
Hepatic failure
Liver failure
0001399
High nonceruloplasmin-bound serum copper 0010838
Hypercalciuria
Elevated urine calcium levels
0002150
Hyperphosphaturia
High urine phosphate levels
0003109
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] 		0001382
Mixed demyelinating and axonal polyneuropathy 0007327
Nephrolithiasis
Kidney stones
0000787
Osteoarthritis
Degenerative joint disease
0002758
Osteomalacia
Softening of the bones
0002749
Osteoporosis 0000939
Personality changes
Personality change
0000751
Poor motor coordination 0002275
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal tubular dysfunction
Abnormal function of filtrating structures in kidney
0000124
Tremor 0001337
Showing of 62 |
Last updated: 7/1/2020
Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.[3]
Last updated: 2/5/2015
Wilson disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.[3]
Last updated: 2/5/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary.[5][1][2]

For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.
Last updated: 2/5/2014

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

The long-term outlook (prognosis) for people with Wilson disease varies and largely depends on timely diagnosis and treatment. If the condition is detected early and treated appropriately, people with Wilson disease can usually enjoy normal health and a normal lifespan. Unfortunately, untreated Wilson disease is associated with severe brain damage, liver failure, and death.[6]
Last updated: 2/5/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Wilson disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wilson disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have been diagnosed with Wilson disease. What are the long-term effects of this disease? Will I need to be on medication for the rest of my life? What are the chances that my children will have Wilson disease? See answer


  1. Wilson Disease. National Institute of Diabetes and Digestive and Kidney Diseases. July 2014; http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx#sec6.
  2. Richard K Gilroy, MBBS, FRACP. Wilson Disease. Medscape Reference. May 2014; http://emedicine.medscape.com/article/183456-overview.
  3. Wilson Disease. Genetics Home Reference. Jaunary 2014; http://ghr.nlm.nih.gov/condition/wilson-disease.
  4. Karl Heinz Weiss, MD. Wilson Disease. GeneReviews. May 2013; http://www.ncbi.nlm.nih.gov/books/NBK1512/#wilson.Management.
  5. Wilson Disease. NORD. March 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/26/viewAbstract.
  6. NINDS Wilson Disease Information Page. National Institute of Neurological Disorders and Stroke. June 2012; http://www.ninds.nih.gov/disorders/wilsons/wilsons.htm.