Rare Medical News

Disease Profile

Wilson disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

E83.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hepatolenticular degeneration; WND; WD

Categories

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;

Summary

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]

Symptoms

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

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.

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

Diagnosis

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.

    Treatment

    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.

    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.

    Organizations

    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

        Learn more

        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.

            References

            1. Wilson Disease. National Institute of Diabetes and Digestive and Kidney Diseases. July 2014; https://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; https://emedicine.medscape.com/article/183456-overview.
            3. Wilson Disease. Genetics Home Reference. Jaunary 2014; https://ghr.nlm.nih.gov/condition/wilson-disease.
            4. Karl Heinz Weiss, MD. Wilson Disease. GeneReviews. May 2013; https://www.ncbi.nlm.nih.gov/books/NBK1512/#wilson.Management.
            5. Wilson Disease. NORD. March 2012; https://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; https://www.ninds.nih.gov/disorders/wilsons/wilsons.htm.

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