Hypophosphatemic rickets refers to a group of rare genetic disorders characterised by clinical and radiographical features similar to rickets but caused by abnormalities in phosphate metabolism. The most common form, X-linked hypophosphatemic rickets (XLH), is caused by inactivating mutations in the PHEX gene, which encodes the phosphate-regulating neutral endopeptidase PHEX. Patients with XLH have elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the clinical manifestations of the disease. Elevated FGF23 levels have also been observed in other hypophosphatemic disorders, yet the role of FGF23 in the pathophysiology of these disorders is incompletely understood. This pathway illustrates hypophosphatemic and autocrine/paracrine molecular pathways that have been proposed to link FGF23 to the bone abnormalities observed in XLH and related disorders. For further details, see [Beck-Nielsen et al](https://www.ncbi.nlm.nih.gov/pubmed/30808384).
Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O; ''FGF23 and its role in X-linked hypophosphatemia-related morbidity.''; Orphanet J Rare Dis, 2019 PubMedEurope PMCScholia
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