Table 2.
Summary of FGF23-Mediated disorders of phosphate wasting and associated genetic & somatic mutations
Disorder | Genetic Mutation |
---|---|
X-linked Hypophosphatemic Rickets | PHEX |
Autosomal Recessive Hypophosphatemic Rickets | DMP1, ENPP1, FAM20C |
Autosomal Dominant Hypophosphatemic Rickets | FGF23 |
Fibrous Dysplasia (FD)/McCune-Albright Syndrome | GNAS |
Tumor Induced Osteomalacia | FN1-FGFR1 fusion gene |
Linear Nevus Sebaceous Syndrome | HRAS, KRAS, NRAS somatic mutations |
Jansen’s Metaphyseal Chondrodysplasia | PTH/PTHrP receptor |
Osteoglophonic Dysplasia | FGFR1 |