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Disease Profile
Alkaptonuria
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 / 1 000 000
Age of onset
Adult
ICD-10
E70.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
AKU; Alcaptonuria; Ochronosis, hereditary;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Alkaptonuria is an
Symptoms
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 vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Arthralgia |
Joint pain
|
0002829 |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Calcification of cartilage | 0100593 | |
Coronary artery calcification | 0001717 | |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Intervertebral disk calcification | 0005645 | |
Irregular hyperpigmentation | 0007400 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Joint swelling | 0001386 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
30%-79% of people have these symptoms | ||
Abnormality of the nail | 0001597 | |
Abnormality of the nose |
Nasal abnormality
|
0000366 |
Aortic valve calcification | 0004380 | |
Cartilage destruction | 0100773 | |
Mitral valve calcification | 0004382 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Prostatitis |
Inflammation of the prostate
|
0000024 |
Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ] |
0100550 |
Thickened Achilles tendon | 0004690 | |
5%-29% of people have these symptoms | ||
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
0000822 | ||
Myocardial infarction |
Heart attack
|
0001658 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Abnormality of the ear | 0000598 | |
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] |
0000079 |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Arthritis |
Joint inflammation
|
0001369 |
Arthropathy |
Disease of the joints
|
0003040 |
0000007 | ||
Back pain | 0003418 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Intervertebral disc degeneration | 0008419 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Pigmentation of the sclera | 0007832 | |
Vertebral fusion |
Spinal fusion
|
0002948 |
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.
Treatment
No therapy has proven to prevent or correct the pigmentary changes of ochronosis.[4]
Dietary restriction of phenylalanine and tyrosine has been proposed to reduce the production of HGA, but severe restriction of these
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes acute intermittent porphyria, rheumatoid arthritis, ankylosing spondylitis and osteoarthritis.
Visit the Orphanet disease page for more information.
|
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
-
AKU Society of North America
10451 Roselle Street #300
San Diego, CA 92121
Telephone: (800) 549-8110
Website: https://www.akusocietyna.org/ -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
The Alkaptonuria Society
66 Devonshire Road
Cambridge, CB1 2BL
United Kingdom
Telephone: +44 (0)1223 322897 (9am 5pm GMT)
E-mail: [email protected]
Website: https://www.akusociety.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Alkaptonuria. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Alkaptonuria. Click on the link to view a sample search on this topic.
References
- Alkaptonuria. Genetics Home Reference (GHR). 2013; https://ghr.nlm.nih.gov/condition=alkaptonuria.
- Alkaptonuria. MedlinePlus. March 2, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/001200.htm.
- Timmis O. Alkaptonuria. AKU Society. 2016; https://www.rarediseasesindia.org/aku.
- Introne WJ, Kayser MA & Gahl WA. Alkaptonuria. GeneReviews. August 22, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1454/.
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