title: Genetics of chondrocalcinosis.
abstract: Rapid developments in genetic analysis have enabled the dissection of a variety of arthropathies that are inherited in a Mendelian manner. These disorders include calcium crystal arthropathies such as calcium pyrophosphate dihydrate deposition (CPPD) disease and hydroxyapatite deposition disease. In CPPD disease, mutations in a recently discovered gene, ANKH, have been demonstrated in five affected families and may also be associated with the idiopathic deposition of calcium pyrophosphate dihydrate crystals. The product of ANKH appears to be involved in cellular transport of inorganic pyrophosphate (PPi) and mutations in ANKH have been shown to have a significant impact on the regulation of intra- and extracellular levels of PPi. In families with hydroxyapatite deposition disease, no gene locus has yet been linked to the disorder.
authors.affiliation: Thomas Jefferson University, Department of Medicine, Division of Rheumatology, Philadelphia, PA 19107, USA.
authors.forename: Raihana
authors.initials: R
authors.lastname: Zaka
authors.forename: Charlene J
authors.initials: CJ
authors.lastname: Williams
mesh_terms: D000818:Animals; D002805:Chondrocalcinosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006801:Humans; D006882:Hydroxyapatites / Q000378:metabolism; D007596:Joints / Q000378:metabolism / Q000473:pathology; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D023421:Models, Animal; D010641:Phenotype; D028061:Phosphate Transport Proteins
chemical_list: C498770:ANKH protein, human; D006882:Hydroxyapatites; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins