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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Pediatr Endocrinol Rev. 2019 Sep;17(1):17–34. doi: 10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate

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