chondrocalcinosis type 2
chondrocalcinosis type 2A common autosomal dominant disorder (OMIM:118600) characterised by joint pain and arthritis caused by calcium deposition in articular cartilage and calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue.
Caused by defects of ANK1, which encodes a multipass transmembrane protein expressed in joints and other tissues that regulates intra- and extracellular levels of inorganic pyrophosphate (PPi).
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