. Author manuscript; available in PMC: 2011 Jun 4.

Published in final edited form as: Nat Rev Endocrinol. 2009 Nov;5(11):611–619. doi: 10.1038/nrendo.2009.196

Table 1.

Diseases owing to dysregulation of FGF23

Human diseases	Cause
*Increased FGF23 activity*
X-linked hypophosphatemia	PHEX mutation
Autosomal dominant hypophosphatemic rickets	FGF23 mutation
Autosomal recessive hypophosphatemic rickets/osteomalacia	DMP1 mutation
McCune-Albright syndrome	GNAS1 mutation
Osteoglophonic dysplasia	FGFR1 mutation
Epidermal nevus syndrome	FGFR3 mutation
Tumor-induced osteomalacia	FGF23-producing tumor
*Decreased FGF23 activity*
Familial tumoral calcinosis	GALNT3 or FGF23 or KL mutation

The serum levels of both the C-terminal fragment of FGF23 and of intact FGF23 are high in patients with familial tumoral calcinosis who carry a KL mutation, whereas serum levels of C-terminal FGF23 are high and levels of intact FGF23 are low-to-normal in patients with familial tumoral calcinosis who carry GLANT3 or FGF23 mutations.