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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chondrocalcinosis 2


Other Names for this Disease
  • CCAL2
  • Chondrocalcinosis familial articular
  • Familial articular chondrocalcinosis
  • Calcium pyrophosphate arthropathy
  • CPPDD
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Overview

Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage.[1][2] 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.[1][3][2][4] Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years).[3] It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner.[4] There is no cure for the condition and treatment is symptomatic.[1][2]
Last updated: 2/4/2015

References

  1. Constantine K Saadeh, MD. Calcium Pyrophosphate Deposition Disease. Medscape Reference. October 2014; http://emedicine.medscape.com/article/330936-overview.
  2. Chondrocalcinosis, Familial Articular. NORD. May 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/257/viewAbstract.
  3. Familial calcium pyrophosphate deposition. Orphanet. December 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416.
  4. CHONDROCALCINOSIS 2. OMIM. November 2013; http://www.omim.org/entry/118600.
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Basic Information

  • 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.

In Depth Information

  • 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.
  • 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.
Other Names for this Disease
  • CCAL2
  • Chondrocalcinosis familial articular
  • Familial articular chondrocalcinosis
  • Calcium pyrophosphate arthropathy
  • CPPDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.