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Xu, C. Hyperphosphatemic Familial Tumoral Calcinosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4142 (accessed on 21 September 2026).
Xu C. Hyperphosphatemic Familial Tumoral Calcinosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4142. Accessed September 21, 2026.
Xu, Camila. "Hyperphosphatemic Familial Tumoral Calcinosis" Encyclopedia, https://encyclopedia.pub/entry/4142 (accessed September 21, 2026).
Xu, C. (2020, December 23). Hyperphosphatemic Familial Tumoral Calcinosis. In Encyclopedia. https://encyclopedia.pub/entry/4142
Xu, Camila. "Hyperphosphatemic Familial Tumoral Calcinosis." Encyclopedia. Web. 23 December, 2020.
Hyperphosphatemic Familial Tumoral Calcinosis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues.

genetic conditions

References

  1. Carmichael KD, Bynum JA, Evans EB. Familial tumoral calcinosis: a forty-yearfollow-up on one family. J Bone Joint Surg Am. 2009 Mar 1;91(3):664-71. doi:10.2106/JBJS.G.01512.
  2. Chefetz I, Sprecher E. Familial tumoral calcinosis and the role ofO-glycosylation in the maintenance of phosphate homeostasis. Biochim BiophysActa. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008.
  3. Farrow EG, Imel EA, White KE. Miscellaneous non-inflammatory musculoskeletalconditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 andαKlotho). Best Pract Res Clin Rheumatol. 2011 Oct;25(5):735-47. doi:10.1016/j.berh.2011.10.020. Review.
  4. Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M,Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A.2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.
  5. Sprecher E. Familial tumoral calcinosis: from characterization of a rarephenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010Mar;130(3):652-60. doi: 10.1038/jid.2009.337.
  6. Yancovitch A, Hershkovitz D, Indelman M, Galloway P, Whiteford M, Sprecher E, Kılıç E. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoralcalcinosis. J Bone Miner Metab. 2011 Sep;29(5):621-5. doi:10.1007/s00774-011-0260-1.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 702
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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