Chondrocalcinosis, Familial Articular
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chondrocalcinosis, Familial Articular is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Calcium Gout, Familial
- Calcium Pyrophosphate Arthropathy, Familial
- Calcium Pyrophosphate Dihydrate Deposition Disease
- Pseudogout, Familial
Familial articular chondrocalcinosis is a rare inherited metabolic disorder characterized by deposits of calcium pyrophosphate dihydrate crystals (CPPD) in one or more joint cartilages resulting in eventual damage to the joints. Symptoms may develop due to decreased activity of the enzyme nucleoside triphosphate pyrophosphohydrolase. The symptoms of familial articular chondrocalcinosis mimic those of classical gout and may include swelling, stiffness, and pain, usually in one joint. The knee is most commonly affected. Chondrocalcinosis occurs in a hereditary form (familial articular chondrocalcinosis), a form associated with metabolic disorders and a sporadic form. The hereditary forms are subdivided into chondrocalcinosis-1 (CCAL1) and chondrocalcinosis-2 (CCAL2).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 5/11/2008
Copyright 1986, 1988, 1989, 1995, 2003 National Organization for Rare Disorders, Inc.