Table 1.

FGF23 disorders and other regulators in humans

	Disease	Involved genes
Hypophosphatemia	Hypophosphatemia rickets	Activating mutation of FGF23 ***
		Inactivating mutation of PHEX ***
		Inactivating mutation of DMP 1 ***
		Inactivating mutation of ENPP1 ***
		Inactivating mutation of Npt2c **
		Activating translocation of Klotho * / **
	With renal lithiasis and/or osteopenia and/or hypercalciuria	Inactivating mutation of Npt2a **
		Inactivating mutation of Npt2c **
		Inactivating mutation of NHERF1
	Mac Cune Albright / fibrous dysplasia of bone	Overexpression of FGF23, GNAS ***
	Tumor-induced osteomalacia	Overexpression of FGF23, MEPE, FGF7 and/or FRP4 ***
	Epidermal naevus syndrome	FGF-R3 ***
Hyperphosphatemia	Familial tumoral calcinosis	Inactivating mutation of FGF23 **
		Inactivating mutation of Klotho ***
		Inactivating mutation of GALNT3 **

FGF: fibroblast growth factor

PHEX: phosphate-regulating gene with homologies to endopeptidases on the X chromosome

DMP1: Dentin matrix protein 1

ENPP1 : ecto-nucleotide pyrophosphatase / phosphodiesterase 1

Npt2a: type IIa sodium-phosphate cotransporter (SLC34A1)

Npt2c: type IIc sodium-phosphate cotransporter (SLC34A3)

MEPE: matrix extracellular phosphoglycoprotein

FRP4: frizzled related protein 4

FGF-R3: fibroblast growth factor receptor 3

GALNT3: UDP-N-acetyl-a-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3

^*with associated hyperparathyroidism

^**disease associated with a low FGF23 serum level

^***disease associated with a high FGF23 serum level