GP1BB-related Bernard-Soulier syndrome
Findings
No curated finding names GP1BB-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 caused by deficiency or dysfunction of GPIbβ, leading to markedly decreased GPIb-IX-V surface expression and impaired platelet adhesion. Platelets are enlarged and poorly responsive to ristocetin, consistent with severe reduction of the assembled receptor complex. Variants in GP1BB affect production or proper folding of the GPIbβ subunit, preventing formation of the full receptor complex and resulting in the characteristic Bernard-Soulier phenotype.
Definition from the Mondo Disease Ontology (MONDO:1060239), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: GP1BB-related Bernard-Soulier syndrome
- Also called
- Bernard-Soulier syndrome, type B