. 2019 Feb 26;14:58. doi: 10.1186/s13023-019-1014-8

Table 1.

Non-nutritional diseases of hypophosphatemia

Disease of interest	Abbreviation	MIM#	Gene affected	FGF23 levels	Hypophosphatemia	Calcitriol levels	Osteomalacia/ rickets/stunted growth	Craniofacial abnormalities	Dental abscesses	Enthesopathies	Nephrocalcinosis	Hearing loss	Hypertension	References
X-linked hypophosphatemia	XLH	307800	PHEX	↑	Y	Normal or low	1^st	1^st	1^st	1^st	2^nd	1^st	Y	[3, 9]
Autosomal dominant hypophosphatemic rickets	ADHR	193100	FGF23	↑	Y	Normal or low	1^st	N/A	1^st	N/A	N/A	N/A	N/A	[51]
Autosomal recessive hypophosphatemic rickets 1	ARHR1	241520	DMP1	↑	Y	N/A	1^st	1^st	1^st	Y	N/A	N/A	Y	[52]
Autosomal recessive hypophosphatemic rickets 2	ARHR2	613312	ENPP1	↑	Y	N/A	1^st	N/A	1^st	N/A	N/A	Has been associated with GACI	1^st [GACI, [248]]	[26]
Autosomal recessive hypophosphatemic rickets 3 (Raine Syndrome)	ARHR3	259775	FAM20C	↑	Y	N/A	Not mentioned in the very few cases that survived to preadolescence	1^st	N/A	N/A	N/A	N/A	N/A	[25]
Tumor-induced osteomalacia	TIO	N/A	N/A	↑	Y	Low	1^st	No	N/A	N/A	N/A	N/A	N/A	[249, 250]
Hypophosphatemic rickets with hypercalciuria	HHRH	241530	SLC34A3 (NPT2C)	-	Y	Elevated	1^st	N/A	N/A	N/A	1^st (hypercalciuria)	N/A	N/A	[251]

↑: elevated, -: normal, N: no, Y: yes, 1^st: primary effect, 2^nd: secondary effect (caused by conventional treatment), N/A = not assessed, MIM = Mendelian Inheritance in Man