ICD E83.3ORPHA:89936XLH

X-Linked Hypophosphataemia

X-linked hypophosphataemia is a rare inherited bone condition caused by changes in the PHEX gene, which lead the kidneys to lose too much phosphate. Low phosphate softens the bones, causing rickets, bowed legs, short stature, dental abscesses and bone or joint pain. Care may include phosphate and active vitamin D supplements or a targeted antibody therapy, along with dental, orthopaedic and physiotherapy support.

464
Articles
55
Trials (2 AU)
Updated
18 September 2026
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Common Questions

What is X-Linked Hypophosphataemia?

X-linked hypophosphataemia is a rare inherited bone condition caused by changes in the PHEX gene, which lead the kidneys to lose too much phosphate. Low phosphate softens the bones, causing rickets, bowed legs, short stature, dental abscesses and bone or joint pain. Care may include phosphate and active vitamin D supplements or a targeted antibody therapy, along with dental, orthopaedic and physiotherapy support.

How many clinical trials are available for X-Linked Hypophosphataemia?

RareWays currently indexes 55 clinical trials for X-Linked Hypophosphataemia, of which 7 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.

Where does the research data for X-Linked Hypophosphataemia come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.

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This information is for general awareness only.

For guidance specific to your situation, please speak with your healthcare team.