Hyperphosphatemic Familial Tumoral Calcinosis (HFTC)
The main symptom of the HFTC disease is a dysregulation of calcium/phosphate balance with subsequent deposition of calcium phosphate crystals in soft tissue and bone, usually near joints, causing swallowing and pain. In addition, patients may also suffer from bone lesions, hyperostosis, and dentition defects. More info
Pathogenic mechanism
HFTC is a rare autosomal recessive disease caused by mutations in genes involved in calcium and phosphate homeostasis and characterized by high serum phosphate concentration and occurrence of ectopic calcifications. Among these genes belong FGF23 and GALNT3 which are functionally connected.
Mouse Models
- Galnt3 KO
- Galnt3 RQ (point mutation R261Q)
- Fgf23 KO