KEGG   DISEASE: H01193Help
Entry
H01193                      Disease                                

Name
Familial tumoral calcinosis (FTC)
Description
Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). hFTC is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, occasionally, in visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; defective function of any one of these three proteins results in hyperphosphatemia and ectopic calcification. nFTC is characterized by absence of metabolic abnormalities. nFTC has been found to be associated with absence of functional SAMD9, a putative tumor suppressor and anti-inflammatory protein.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Mucin type O-Glycan biosynthesis
MAPK signaling pathway
Regulation of actin cytoskeleton
Pentose and glucuronate interconversions
Starch and sucrose metabolism
Endocrine and other factor-regulated calcium reabsorption
Gene
(hFTC) GALNT3 [HSA:2591] [KO:K00710]
(hFTC) FGF23 [HSA:8074] [KO:K04358]
(hFTC) KL [HSA:9365] [KO:K14756]
(nFTC) SAMD9 [HSA:54809]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19865099 (description, gene)
  Authors
Sprecher E
  Title
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
  Journal
J Invest Dermatol 130:652-60 (2010)
Reference
PMID:22142751 (description, gene)
  Authors
Farrow EG, Imel EA, White KE
  Title
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho).
  Journal
Best Pract Res Clin Rheumatol 25:735-47 (2011)
Reference
PMID:19013236 (description, gene)
  Authors
Chefetz I, Sprecher E
  Title
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
  Journal
Biochim Biophys Acta 1792:847-52 (2009)

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