Non-nutritional rickets: Approach, precision medicine, and outcomes

Figure 1 Etiological classification of rickets. ¹Multiple known causative genes. FGF-23: Fibroblast growth factor 23; XLH: X-linked hypophosphatemic ricket; PHEX: Phosphate regulating endopeptidase homolog X-linked; ADHR: Autosomal dominant hypophosphatemic rickets; ARHR1: Autosomal recessive hypophosphatemic rickets type 1; DMP1: Dentin matrix protein 1; ARHR2: Autosomal recessive hypophosphatemic rickets type 2; ENPP1: Ectonucleotide pyrophosphatase/phosphodiesterase 1; FAM20C: Family with sequence similarity 20-member C; PFD: Polyostotic fibrous dysplasia; GNAS: Guanine nucleotide-binding protein alpha-stimulating; FGFR1: Fibroblast growth factor receptor 1; INPPL1: Inositol polyphosphate phosphatase-like 1; PTH1R: Parathyroid hormone 1 receptor; Ca: Calcium; PO₄: Phosphorus; HHRH: Hypophosphatemic rickets with hypercalciuria; SLC34A3: Solute carrier family 34 member 3; NPHLOP1: Nephrolithiasis and osteoporosis type 1; SLC34A1: Solute carrier family 34 member 1; NPHLOP2: Nephrolithiasis and osteoporosis type 2; NHERF1: Na⁺/H⁺ exchanger regulatory factor 1; SLC9A3R1: Solute carrier family 9 member A3 regulator 1; FS: Fanconi syndrome; dRTA: Distal renal tubular acidosis; VDDR1A: Vitamin D dependent rickets type 1A; CYP27B1: Cytochrome P450 family 27 subfamily B member 1; VDDR1B: Vitamin D dependent rickets type 1B; CYP2R1: Cytochrome P450 family 2 subfamily R member 1; VDDR2A: Vitamin D dependent rickets type 2A; VDDR2B: Vitamin D dependent rickets type 2B; VDR: Vitamin D receptor; VDDR3: Vitamin D dependent rickets type 3; NNR: Non-nutritional ricket; IBD: Inflammatory bowel disease.