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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
CCAL2; Chondrocalcinosis familial articular; Familial articular chondrocalcinosis;
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases
Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time). Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Chondrocalcinosis 2 is actually a
Chondrocalcinosis 2 is caused by changes in the ANKH
The symptoms can be chronic (occurring all the time) or may occur in sudden episodes. If the pain occurs in episodes, it can last anywhere from several hours to several weeks. In some cases, episodes of pain may cause fevers. The attack may affect only one joint or multiple joints. Joints that are most commonly affected include the knees, wrists, hips, or shoulders. Some people with chondrocalcinosis 2 may experience pain in the back if calcium deposits develop around the bones of the spine.
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 intervertebral disk||0005108|
|Calcification of cartilage||0100593|
|30%-79% of people have these symptoms|
Degenerative joint disease
|5%-29% of people have these symptoms|
Calcium deposits in joints
Recurrent joint dislocations
[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
Disease of the joints
If a doctor suspects that a person has chondrocalcinosis caused by a change (pathogenic variation) in the ANKH
- 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.
- Joint aspiration (draining of fluid from the affected joint)
- Non-steroidal anti-inflammatory drugs (NSAIDs), including aspirin or ibuprofen
For people who have frequent episodes of pain or for whom other medications are not effective, small doses of a medication called colchicine may be recommended. However, this medication has side effects and may not help everyone with chondrocalcinosis 2.
In some cases, people with chondrocalcinosis 2 may be required to wear a splint or brace to prevent too much movement. In other cases,
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 other genetic conditions causing secondary CC such as chronic hypomagnesaemia, Gitelman syndrome, rare hereditary hemochromatosis and hypophosphatasia (see these terms). CPPD can also occur sporadically but it is a separate, much more common entity, with aging being the most important risk factor.
Visit the Orphanet disease page for more information.
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.
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.
- Genetics Home Reference (GHR) contains information on Chondrocalcinosis 2. This website is maintained by the National Library of Medicine.
- The Merck Manual provides information on this condition for patients and caregivers.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Chondrocalcinosis 2.
- 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 Chondrocalcinosis 2. Click on the link to view a sample search on this topic.
- Saadeh CK and Davey-Ranasinghe N. Calcium Pyrophosphate Deposition Disease. Medscape Reference. November 28, 2017; https://emedicine.medscape.com/article/330936-overview.
- Chondrocalcinosis, Familial Articular. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/chondrocalcinosis-familial-articular/.
- Bardin T and Richette P. Familial calcium pyrophosphate deposition. Orphanet. December 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416.
- Chondrocalcinosis 2; CCAL2. Online Mendelian Inheritance in Man (OMIM). March 4, 2015; https://www.omim.org/entry/118600.
- Ryan LM. Calcium Pyrophosphate Arthritis. Merck Manual: Consumer Version. https://www.merckmanuals.com/home/bone,-joint,-and-muscle-disorders/gout-and-pseudogout/calcium-pyrophosphate-arthritis. Accessed 12/26/2017.
- Williams CJ. The role of ANKH in pathologic mineralization of cartilage.. Curr Opin Rheumatol. March 2016; 28(2):145-51. https://www.ncbi.nlm.nih.gov/pubmed/26599446.