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GTR Home > Conditions/Phenotypes > Chondrocalcinosis 2

Chondrocalcinosis 2

Synonyms
Calcium gout; Calcium gout, familial; Calcium pyrophosphate arthropathy; Calcium pyrophosphate arthropathy, familial; Calcium pyrophosphate dihydrate deposition disease; Chondrocalcinosis familial articular; Familial calcium pyrophosphate deposition; Pseudogout, familial
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

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. [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1, ANKH
    Summary: ANKH inorganic pyrophosphate transport regulator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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