Table 2.

FGF23-related disorders.

Disease	Locus	Inheritance pattern	Genetic defect	FGF23 function	iFGF23	cFGF23	TmP/GFR	Serum calcium	Serum phosphate	Urinary phosphate	PTH	1,25(OH)2D	Bone features	Erythropoiesis
ADHR (OMIM 193100)	12p13.3	AD	R176Q, R179Q/W	GoF	= or ↑	↑ or =	↓	=	↓	↑	= or ↑	= or ↓	Bone deformities including varus deformity lower extremities, rachitic rosary, craniosynostosis, short stature; bone pain, bone fractures.	IDA, or low serum iron, associated with elevated FGF23 in ADHR.
fTC (OMIM 211900)	12p13.3	AR	S71G, M96T, S129F, F157L	LoF	= or ↓	↑	↑	=	↑	↓	= or ↓	= or ↑	Tumoral calcinosis, or ectopic calcifications, hyperostosis, vascular calcifications.	Not reported.

Summary of laboratory parameters and clinical characteristics of disorders associated with gain of function (ADHR) (ADHR Consortium, 2000; Imel et al., 2007, 2011; Huang et al., 2013; Acar et al., 2017; Clinkenbeard and White, 2017; Michalus and Rusinska, 2018; Luo et al., 2019) and loss of function (fTC) mutations (Ramnitz et al., 1993; Araya et al., 2005; Larsson et al., 2005a,b; Bergwitz et al., 2009; Huang et al., 2013; Clinkenbeard and White, 2017; Luo et al., 2019) in the FGF23 gene. AD, autosomal dominant; ADHRs, autosomal dominant hypophosphatemic rickets; AR, autosomal recessive; FGF23, fibroblast growth factor 23; fTC, familial tumoral calcinosis; GoF, gain of function; IDA, iron deficiency anemia; LoF, loss of function; PTH, parathyroid hormone; TmP/GFR, tubular maximum reabsorption rate of phosphate per glomerular filtration rate.