The reference OMIM entry for this protein is 118600

Chondrocalcinosis 2; ccal2
Chondrocalcinosis, familial articular
Calcium gout
Calcium pyrophosphate arthropathy
Calcium pyrophosphate dihydrate deposition disease; cppdd

A number sign (#) is used with this entry because chondrocalcinosis-2 (CCAL2) is caused by heterozygous mutation in the ANKH gene (605145) on chromosome 5p15.

DESCRIPTION

Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). - Genetic Heterogeneity of Chondrocalcinosis Another form of chondrocalcinosis (CCAL1; 600668) has been mapped to chromosome 8q.

CLINICAL FEATURES

Under the designation of chondrocalcinosis articularis, Aschoff et al. (1966) described a family with 4 affected persons in 2 generations. The disorder was manifested clinically by episodic inflammatory involvement, acute or subacute, of one or more joints. Calcified hyaline and fibrous cartilage is demonstrable by x-ray, particularly in large joints. In articular cartilage a dense narrow band follows the contour of the epiphysis. Reginato et al. (1970) observed an unusually high frequency among natives of the Chiloe Island group. Twenty-eight patients were observed of whom 19 were aggregated in 6 kindreds. Parent-child involvement with no male-to-male transmission was observed in 3 of the families. In the other 3 families one or both parents were not screened. Since the Chiloe group lives in an isolated area and is presumably inbred, recessive inheritance remains a possibility. In these cases involvement was polyarticular. Ankylosing of joints was a new feature observed in this study. Rodriguez-Valverde et al. (1980) studied the first-degree relatives of 46 cases in northern Spain and found that 5 cases were familial. In these 5 families, a total of 17 persons showed calcified cartilage radiographically. All were in the same generation, although not always in the same sibship. Inbreeding (type unspecified) was stated for 4 of the 5 kindreds. In a further study, Rodriguez-Valverde et al. (1988) identified 13 pedigrees through a systematic radiologic survey of the first-degree relatives of 76 probands. Thirty women and 11 men in 25 sibships were affected. The disease was of early onset in only 4 pedigrees. The clinical manifestations in these 4 pedigrees were similar to those found in the kindreds with late onset. Autosomal dominant inheritance was supported. In Spain, Fernandez Dapica and Gomez-Reino (1986) found a 28.1% prevalence of chondrocalcinosis in 149 relatives of 32 patients with calcium pyrophosphate dihydrate deposition disease. No clinical or radiologic differences between sporadic and familial cases were found. The features were similar to those of the Chiloe islanders with familial chondrocalcinosis as reported by Reginato (1976). Fernandez Dapica and Gomez-Reino (1986) concluded that the findings support the idea that the disorder was carried to Chile by Spanish immigrants. Depressed activity of synovial pyrophosphohydrolase was suggested by the findings of Good and Starkweather (1969). This was not pursued furt ... More on the omim web site

Subscribe to this protein entry history

Feb. 23, 2019: Protein entry updated
Automatic update: model status changed

Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 118600 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).