Disease

X-linked dominant hypophosphatemic rickets1, 2

Gene

PHEX

Inheritance XL
Current Treatments burosumab, phosphate supplements, calcitriol
Evidence for Treatment guideline3, 4
Non-Molecular Testing Availability yes
Non-Molecular Test serum phosphate concentration, tubular resorption of phosphate corrected for glomerular filtration rate1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC009
Disease Frequency (per 100,000) 55
Genes Included in Disease Frequency PHEX
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Hypophosphatemic+Rickets&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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