chondrocalcinosis
Chondrocalcinosis (CC) is a common cause of joint pain and arthritis that is caused by the deposition of calcium-containing crystals within articular cartilage. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2).
Etiology
familial autosomal dominant calcium pyrophosphate dihydrate chondrocalcinosis
- ch. 8 (Locus CCAL1)
- 5p (Locus CCAL2): mutation in the transmembrane protein ANKH encoding a putative transmembrane inorganic pyrophosphate (PPi) transport channel. (#12297989#, #12297987#)
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