X-Linked Hypophosphatemia

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Introduction

The PHEX gene, named to signify Phosphate regulating gene with Homologies to Endopeptidases located on the X chromosome, was identified in 1995 as the gene disrupted in X-Linked Hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets (1). XLH is inherited in an X-Linked dominant pattern and shows complete penetrance in both males and females (2 & 3). Patients experience lifelong symptoms resulting from chronic hypophosphatemia including impaired bone mineralization, rickets, skeletal deformities, growth retardation and diminished quality of life (4 – 6) .

View the PHEX gene structure here.

Explore the PHEX database

    References:
  1. The HYP Consortium, A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets. Nat Genet 11, 130–136 (1995).
  2. Thakker, R. V., Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet 24(12), 756-60 (1987).
  3. Ruppe M. D., X-Linked Hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; (1993-2017).
  4. Liu, S. et al., How Fibroblast Growth Factor 23 Works. J Am Soc Nephrol 18, 1637–1647 (2007).
  5. Carpenter, T. O. et al., A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res 26, 1381–1388 (2011).
  6. Pavone, V. et al., Hypophosphatemic rickets: etiology, clinical features and treatment. European J Orthop Surg Traumatology Orthopédie Traumatologie 25, 221–6 (2014).

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