GP1BA-related Bernard-Soulier syndrome
Findings
No curated finding names GP1BA-related Bernard-Soulier syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Bernard-Soulier syndrome in which the cause of the disease is a variation in the GP1BA gene, characterized by macrothrombocytopenia, reduced or absent expression of the GPIb-IX-V complex, and lifelong mucocutaneous bleeding. Affected individuals have large platelets with defective ristocetin-induced agglutination, reflecting the absence or dysfunction of GPIbα on the platelet surface. Variants in GP1BA impair production, trafficking, or incorporation of GPIbα into the receptor complex, preventing normal surface assembly and leading to the classic BSS adhesion defect.
Definition from the Mondo Disease Ontology (MONDO:1060238), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: GP1BA-related Bernard-Soulier syndrome
- Also called
- Bernard-Soulier syndrome, type A1