Chondrocalcinosis 2 (CCAL2)

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OMIM 57 118600 KEGG 37 H01236 MeSH 44 D002805

MedGen 42 C0856830 UMLS 72 C0242217 C0856830

NIH Rare Diseases : ⁵³ Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time). Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Chondrocalcinosis 2 is actually a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. The age-related chondrocalcinosis is quite common, whereas chondrocalcinosis 2 is not. In addition, people with chondrocalcinosis 2 are more likely to have symptoms that develop earlier in adulthood than the age-related form.. Chondrocalcinosis 2 is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner. Chondrocalcinosis 2 is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene. Treatment may include the use of corticosteroids, pain relievers, and physical therapy.

MalaCards based summary : Chondrocalcinosis 2, also known as calcium pyrophosphate arthropathy, is related to chondrocalcinosis and crystal arthropathies. An important gene associated with Chondrocalcinosis 2 is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Calcium and Hormones have been mentioned in the context of this disorder. Affiliated tissues include testes and bone, and related phenotypes are osteoarthritis and arthropathy

OMIM : ⁵⁷ 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). (118600)

KEGG : ³⁷ Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.

UniProtKB/Swiss-Prot : ⁷⁴ Chondrocalcinosis 2: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.

Wikipedia : ⁷⁵ Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Clinical features from OMIM:

118600

Search NIH Clinical Center for Chondrocalcinosis 2

Search GEO for disease gene expression data for Chondrocalcinosis 2.