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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Pyle disease is caused by mutations in the SFRP4 gene. This gene provides instructions for making a protein that blocks (inhibits) a process called Wnt signaling, which is involved in the development of several tissues and organs throughout the body. In particular, regulation of Wnt signaling by the SFRP4 protein is critical for normal bone development and remodeling. Bone remodeling is a normal process in which old bone is broken down and new bone is created to replace it. Mutations in the SFRP4 gene are thought to prevent the production of functional SFRP4 protein. The resulting dysregulation of Wnt signaling leads to the bone abnormalities characteristic of Pyle disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pyle-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pyle disease?"},{"bodyHtml":"<p>Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pyle-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pyle-disease","sourceDocuments":[{"name":"Pyle disease","reviewed":"2017-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:35.800868+00:00","label":"Causes","pageSha256":"e16f5f8c540d268fe68e4d09997198986a4f31b27a3301ed60dc1594ce908180","sourceUrl":"https://medlineplus.gov/genetics/condition/pyle-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pyle-disease"}],"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":"Pyle disease"},"schemaVersion":1}