GP9-related Bernard-Soulier syndrome
Findings
No curated finding names GP9-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 the variation in the GP9 gene, marked by absent or markedly reduced GPIb-IX-V complex expression, resulting in impaired platelet adhesion and lifelong mucocutaneous bleeding. Platelets are large and functionally deficient, with severely reduced ristocetin-induced agglutination reflecting loss of functional GPIX within the receptor complex. Variants in GP9 disrupt synthesis or stability of the GPIX subunit, preventing proper assembly of the GPIb-IX-V complex and producing the characteristic bleeding phenotype.
Definition from the Mondo Disease Ontology (MONDO:1060237), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: GP9-related Bernard-Soulier syndrome
- Also called
- Bernard-Soulier syndrome, type C