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Diseases

Genetic and Rare Diseases Information Center (GARD)

Primary Familial Brain Calcification


Other Names for this Disease
  • FIBGC (formerly)
  • Idiopathic basal ganglia calcification 1
  • IBGC1
  • Bilateral striopallidodentate calcinosis
  • BSPDC
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Cause

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What causes primary familial brain calcification (PFBC)?

PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.[1][2]
Last updated: 9/4/2015

References
  1. Sobrido MJ, Coppola G, Oliveira J, Hopfer S, Geschwind DH. Primary Familial Brain Calcification. GeneReviews. October 16, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1421/. Accessed 9/4/2015.
  2. Familial idiopathic basal ganglia calcification. Genetics Home Reference (GHR). February 2013; http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification. Accessed 9/4/2015.


Other Names for this Disease
  • FIBGC (formerly)
  • Idiopathic basal ganglia calcification 1
  • IBGC1
  • Bilateral striopallidodentate calcinosis
  • BSPDC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.