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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the PHEX gene cause X-linked hypophoshatemia. The PHEX gene provides instructions for making an enzyme that appears to be important for the proper development of bones and teeth.</p><p>The PHEX gene variants that cause X-linked hypophosphatemia lead to an increase in the amount of fibroblast growth factor 23. Fibroblast growth factor 23 is a protein that works within the intestines and kidneys to keep the body’s phosphate levels in balance. The intestines normally absorb phosphate from food and release it into the bloodstream, while the kidneys release excess phosphate in the urine. When more phosphate is needed, the kidneys can also reabsorb phosphate into the bloodstream. When PHEX gene variants increase the amount of fibroblast growth factor 23, the absorption of phosphate in the intestines and the reabsorption of phosphate by the kidneys are impaired. As a result, less phosphate is available for normal bone development and maintenance, which contributes to the skeletal abnormalities seen in people with X-linked hypophosphatemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-hypophosphatemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked hypophosphatemia?"},{"bodyHtml":"<p>The features of X-linked hypophosphatemia vary widely, even among members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected individuals typically experience slow growth beginning in early childhood, and they may be shorter than their peers. They often develop bone abnormalities that can impair movement and cause pain, such as legs that are abnormally curved (bowed) because the bones are too weak to bear weight. These abnormalities tend to worsen over time.</p><p>In adults with X-linked hypophosphatemia, osteomalacia can make the bones more prone to a type of fracture called a stress fracture, which can be painful. Affected adults may also have abnormal calcium deposits that occur near the joints where the ligaments and tendons attach (enthesopathy) and a painful joint disorder called osteoarthritis.</p><p>Other signs and symptoms of X-linked hypophosphatemia can include premature fusion of the skull bones (craniosynostosis) and hearing loss. Affected individuals may also have dental abnormalities, which can include pus caused by a bacterial infection (abscess). In rare cases, people with X-linked hypophosphatemia have abnormalities of the spine, which can include a narrowing of the spinal canal that can pinch the upper part of the spinal cord (spinal stenosis) and the formation of fluid-filled cysts (syrinx) within the spinal cord.</p><p>With early treatment, people with X-linked hypophosphatemia may have less-severe skeletal signs and symptoms and fewer long-term health issues.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-hypophosphatemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-hypophosphatemia","sourceDocuments":[{"name":"X-linked hypophosphatemia","reviewed":"2026-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:56.913656+00:00","label":"Causes","pageSha256":"e69571338056b5136afd127c908a6af9556c35f9693d0254cb9b760633c3ac4b","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-hypophosphatemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-hypophosphatemia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"X-linked hypophosphatemia"},"schemaVersion":1}