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||
|80%-99% of people have these symptoms|
|Abnormality of the hand||
Hand deformities[ more ]
|Abnormality of the menstrual cycle||0000140|
|Acute hepatic failure||
Acute liver failure
Acute liver inflammation
Aggressiveness[ more ]
Easy bruising[ more ]
Difficulty in walking
Difficulty articulating speech
|Elevated hepatic transaminases||
High liver enzymes
|Failure to thrive||
Weight faltering[ more ]
Fatty infiltration of liver
Fatty liver[ more ]
|Increased body weight||0004324|
Mental retardation, nonspecific
Mental-retardation[ more ]
Yellowing of the skin[ more ]
|Proximal muscle weakness in lower limbs||0008994|
Skin itching[ more ]
Increased spleen size
Low platelet count
|5%-29% of people have these symptoms|
Peripheral nerve disease
|Percent of people who have these symptoms is not available through HPO|
|Atypical or prolonged hepatitis||
Atypical or prolonged liver inflammation
Progressive dementia[ more ]
Swallowing difficulty[ more ]
|High nonceruloplasmin-bound serum copper||0010838|
Elevated urine calcium levels
High urine phosphate levels
Increased mobility of joints[ more ]
|Mixed demyelinating and axonal polyneuropathy||0007327|
Degenerative joint disease
|Poor motor coordination||0002275|
High urine protein levels
Protein in urine[ more ]
|Renal tubular dysfunction||0000124|
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.
Learn more orphan products.
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.
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.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Copper 2016 Sorrento (10th International Copper Research Meeting)
Sunday, September 25, 2016 -
Friday, September 30, 2016
Location: Grand Hotel Vesuvio, Sorrento, Italy
Contact: Stephen G. Kaler, MD MPH301-451-6034
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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