Table 1.

Laboratory characteristics of inherited and acquired causes of calcipenic and phosphopenic rickets and osteomalacia

Disease	MIM no.	Genetic defect	Plasma FGF23	TmP/GFR	Serum Ca	Serum P	Serum ALP	Plasma PTH	Serum 25OHD	Serum 1,25(OH)2D	Urine Ca excretion, urine Ca/Cr
Nutritional rickets caused by vitamin D and/or dietary calcium deficiency	N/A	N/A	N or ↓	↓	↓ or N	↓	↑↑↑	↑↑↑	↓↓↓ or N	N or ↓	↓
Vitamin D–dependent rickets type 1A (VDDR1A)	264700	CYP27B1	N or ↓	↓	↓↓	↓	↑↑↑	↑↑↑	N	↓↓	↓
Vitamin D–dependent rickets type 1B (VDDR1B)	600081	CYP2R1	N or ↓	↓	↓↓	↓	↑↑↑	↑↑↑	↓↓	↓	↓
Vitamin D–dependent rickets type 2A (VDDR2A)	277440	VDR	N or↓	↓	↓↓	↓	↑↑↑	↑↑↑	N	↑↑↑	↓
Vitamin D–dependent rickets type 2B (VDDR2B)	164020	HNRNPC	N or ↓	↓	↓↓ or N	↓	↑↑↑	↑↑↑	N	↑↑↑	↓
Vitamin D–dependent rickets type 3 (VDDR3)	N/A	CYP3A4	N or ↓	↓	↓↓	↓	↑↑↑	↑↑↑	↓↓	↓	↓
X-linked hypophosphatemia (XLH)	307800	PHEX	↑or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Autosomal dominant hypophosphatemic rickets (ADHR)	193100	FGF23	↑or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Autosomal recessive hypophosphatemic rickets 1 (ARHR1)	241520	DMP1	↑or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Autosomal recessive hypophosphatemic rickets 2 (ARHR2)	613312	ENPP1	↑or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Autosomal recessive hypophosphatemic rickets 3 -Raine syndrome (ARHR3)	259775	FAM20C	↑or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Tumor-induced osteomalacia (TIO)	N/A	N/A	↑↑↑	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Cutaneous skeletal hypophosphatemia syndrome (SFM)	163200	RAS	↑ or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Osteoglophonic dysplasia (OGD)	66250	FGFR1	↑ or N	↓	N	↓	↑↑	N or ↑	N	N or ↓	N or ↓
Hypophosphatemic rickets with hypercalciuria (HHRH)	241530	SLC34A3	↓	↓	N	↓	↑↑	N	N	↑↑	↑
Hypophosphatemia and nephrocalcinosis (NPHLOP1)	612286	SLC34A1	↓	↓	N	↓	↑↑	N	N	↑	↑
Renal Fanconi syndrome, e.g., cystinosis	Various	Various mutations	↓ or N	↓	↓		↑↑	N or ↑	N	N or ↑	N or ↑
Phosphopenic rickets due to dietary phosphate deficiency or malabsorption	N/A	N/A	↓	↑	↓		↑↑	N	N	N	N

N normal, ↑ elevated, ↓ ↑ reduced, N/A information not available or not assessed, MIM Mendelian Inheritance in Man, Ca serum calcium corrected for albumin, P serum phosphate, serum ALP serum alkaline phosphatase activity, TmP/GFR renal tubular threshold maximum for phosphate, plasma FGF23 fibroblast growth factor-23, serum 25OHD 25-hydroxyvitamin D, 1,25(OH)₂D 1,25-dihydroxyvitamin D (calcitriol), urine Ca/Cr ratio urine for calcium or creatinine ratio