Table 1.

Genetic disorders of phosphate regulation

Hypophosphatemic Disorders
Disease	Genetic mutation	Pathogenesis of the disease
Autosomal recessive Fanconi syndrome, hypophosphatemic rickets	NaPi2a (SLC34A1, Npt2a, NaPi-IIa)	Loss of function of NaPi2a at the brush border of the proximal tubule
Hereditary hypophosphatemic rickets with hypercalciuria	NaPi2c (SLC34A3, Npt2c, NaPi-IIc)	Loss of function of NaPi2c at the brush border of the proximal tubule
Hypophosphatemia, nephrocalcinosis and osteopenia	NHERF1	Loss of function of the anchoring protein resulting in decreased expression of brush border NaPi2a
Autosomal dominant hypophosphatemic rickets	FGF23	FGF23 protein that is resistant to degradation
Autosomal recessive hypophosphatemic rickets	DMP1	Increased expression of FGF23 protein from the bone
	ENPP1
X-linked hypophosphatemic rickets	PHEX	Increased expression of FGF23 protein from the bone
Fibrous dysplasia/McCune-Albright syndrome	GNAS-1	Increased expression of FGF23 protein rom the bone lesions
Hypophosphatemic rickets	Klotho	Overexpression of Klotho results in hypophosphatemia
Hyperphosphatemic disorders
Disease	Genetic mutation	Pathogenesis of the disease
Tumoral calcinosis	FGF23	Decreased production or increased degradation of FGF23 or resistance to FGF23 due the absence of Klotho
	GALNT3
	Klotho