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 vision||
Abnormality of sight
Vision issue[ more ]
|Calcification of cartilage||0100593|
|Coronary artery calcification||0001717|
|Intervertebral disk calcification||0005645|
Recurrent joint dislocations[ more ]
Stiff joints[ more ]
Degenerative joint disease
|30%-79% of people have these symptoms|
|Abnormality of the nail||0001597|
|Abnormality of the nose||
|Aortic valve calcification||0004380|
|Mitral valve calcification||0004382|
Inflammation of the prostate
Rupture of tendons
Ruptured tendon[ more ]
|Thickened Achilles tendon||0004690|
|5%-29% of people have these symptoms|
|Reduced bone mineral density||0004349|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Abnormality of the ear||0000598|
|Abnormality of the urinary system||
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies[ more ]
Growth issue[ more ]
|Intervertebral disc degeneration||0008419|
Round back[ more ]
|Pigmentation of the sclera||0007832|
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.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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
My husband, now 44 years of age, was diagnosed with alkaptonuria 10 years ago. Until recently, he experienced discoloration of the urine, occasional stiff joints, and rupture of tendons. Now he is having breathing problems and stomach issues. Are these symptoms related to alkaptonuria? Are there any treatments for this condition? Are there dietary guidelines for individuals with alkaptonuria? See answer
My brother was diagnosed with ochronosis, and he has alkaptonuria. He was told that there are no treatments for this condition. Do you know of any treatments available? See answer