Chondrocalcinosis, Familial Articular

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Chondrocalcinosis, Familial Articular is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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).

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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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.

Last Updated:  5/11/2008
Copyright  2003 National Organization for Rare Disorders, Inc.