KEGG   DISEASE: Familial tumoral calcinosis
Entry
H01193                      Disease                                
Name
Familial tumoral calcinosis
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 disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01193  Familial tumoral calcinosis
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H01193  Familial tumoral calcinosis
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa00512  Mucin type O-glycan biosynthesis
hsa04010  MAPK signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa00040  Pentose and glucuronate interconversions
hsa00500  Starch and sucrose metabolism
hsa04961  Endocrine and other factor-regulated calcium reabsorption
Network
nt06325 Hormone/cytokine signaling
Gene
(HFTC1) GALNT3 [HSA:2591] [KO:K00710]
(HFTC2) FGF23 [HSA:8074] [KO:K22428]
(HFTC3) KL [HSA:9365] [KO:K14756]
(NFTC) SAMD9 [HSA:54809] [KO:K23949]
Other DBs
ICD-11: 5C54.1
ICD-10: M11.2
MeSH: C566870 C566473
OMIM: 211900 617993 617994 610455
Reference
  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)
DOI:10.1038/jid.2009.337
Reference
  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)
DOI:10.1016/j.berh.2011.10.020
Reference
  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)
DOI:10.1016/j.bbadis.2008.10.008
Reference
PMID:15133511 (GALNT3)
  Authors
Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E
  Title
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
  Journal
Nat Genet 36:579-81 (2004)
DOI:10.1038/ng1358
Reference
PMID:15590700 (FGF23)
  Authors
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B
  Title
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
  Journal
Hum Mol Genet 14:385-90 (2005)
DOI:10.1093/hmg/ddi034
Reference
PMID:17710231 (KL)
  Authors
Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ
  Title
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
  Journal
J Clin Invest 117:2684-91 (2007)
DOI:10.1172/JCI31330
Reference
PMID:16960814 (SAMD9)
  Authors
Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E
  Title
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
  Journal
Am J Hum Genet 79:759-64 (2006)
DOI:10.1086/508069
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