KEGG   DISEASE: Familial tumoral calcinosis
H01193                      Disease                                

Familial tumoral calcinosis
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.
Inherited metabolic disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01193  Familial tumoral calcinosis
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
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
(hFTC) GALNT3 [HSA:2591] [KO:K00710]
(hFTC) FGF23 [HSA:8074] [KO:K22428]
(hFTC) 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 610455
Sprecher E
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.
J Invest Dermatol 130:652-60 (2010)
Farrow EG, Imel EA, White KE
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and alphaKlotho).
Best Pract Res Clin Rheumatol 25:735-47 (2011)
Chefetz I, Sprecher E
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Biochim Biophys Acta 1792:847-52 (2009)

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