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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9. The proteins produced from these genes are pieces (subunits) of a protein complex called glycoprotein (GP)Ib-IX-V. This complex is found on the surface of platelets and plays an important role in blood clotting.

The GPIb-IX-V complex can attach (bind) to a protein called von Willebrand factor, fitting together like a lock and its key. Von Willebrand factor is found on the inside surface of blood vessels, particularly when there is an injury. Binding of the GPIb-IX-V complex to von Willebrand factor allows platelets to stick to the blood vessel wall at the site of the injury. These platelets form clots, plugging holes in the blood vessels to help stop bleeding.

Most mutations in GP1BA, GP1BB, or GP9 prevent the formation of the GPIb-IX-V complex on the surface of platelets. Other mutations impair the complex's interaction with von Willebrand factor. All of these mutations impair clot formation, which leads to the excessive bleeding characteristic of Bernard-Soulier syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Bernard-Soulier syndrome?"},{"bodyHtml":"

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"bernard-soulier-syndrome","sourceDocuments":[{"name":"Bernard-Soulier syndrome","reviewed":"2016-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:49.163531+00:00","label":"Causes","pageSha256":"aa5deb53f6781ed0669925acabed43f1ee261748e59e558c27b6b5a9834f426f","sourceUrl":"https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome"}],"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":"Bernard-Soulier syndrome"},"schemaVersion":1}