Table 1.
FGF23-related hypophosphatemic diseases.
| Responsible gene | Mutations | Reference | |
|---|---|---|---|
| X-linked hypophosphatemic rickets: XLH | PHEX | Inactivating | (20) |
| Autosomal dominant hypophosphatemic rickets: ADHR | FGF23 | Activating | (1) |
| Autosomal recessive hypophosphatemic rickets 1: ARHR1 | DMP1 | Inactivating | (21, 22) |
| Autosomal recessive hypophosphatemic rickets 2: ARHR2 | ENPP1 | Inactivating | (23, 24) |
| Osteoglophonic dysplasia | FGFR1 | Activating | (25) |
| Jansen-type metaphyseal chondrodysplasia | PTH1R | Activating | (26) |
| Hypophosphatemia with dental abnormality and ectopic calcification | FAM20C | Inactivating | (27) |
| McCune-Albright syndrome | GNAS1 | Activating | (28) |
| Epidermal nevus syndrome: ENS | HRAS, KRAS, NRAS | Activating | (29) |
| Tumor-induced osteomalacia: TIO | FN-FGF1, FN-FGFR1 | Activating | (30) |
| Hypophosphatemia after infusion of saccharated ferric oxide, iron polymaltose, or ferric carboxymaltose | |||
| Biliary atresia | |||
PHEX, phosphate-regulating gene with homologies to endopeptidases on the X chromosome; FGF23, fibroblast growth factor 23; DMP1, dentin matrix protein 1; ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1; FGFR1, fibroblast growth factor receptor 1; PTH1R, parathyroid hormone 1 receptor; FAM20C, family with sequence similarity 20, member C; GNAS1, guanine nucleotide binding protein, alpha-stimulating activity polypeptide 1; HRAS, Harvey rat sarcoma viral oncogene homolog; KRAS, Kirsten rat sarcoma rival oncogene homolog: NRAS, neuroblastoma RAS viral oncogene homolog; FN, fibronectin; FGFR, FGF receptor.