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
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Genetic and Rare Diseases (GARD) Information Center
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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
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Last Updated: 5/11/2008
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