Other Names for this Disease
- Chondrocalcinosis familial articular
- Familial articular chondrocalcinosis
- Calcium pyrophosphate arthropathy
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joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic.Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the
Last updated: 2/4/2015
- Constantine K Saadeh, MD. Calcium Pyrophosphate Deposition Disease. Medscape Reference. October 2014; http://emedicine.medscape.com/article/330936-overview.
- Chondrocalcinosis, Familial Articular. NORD. May 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/257/viewAbstract.
- Familial calcium pyrophosphate deposition. Orphanet. December 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416.
- CHONDROCALCINOSIS 2. OMIM. November 2013; http://www.omim.org/entry/118600.
- 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.