Bernard-Soulier syndrome, type A2, autosomal dominant
Findings
No curated finding names Bernard-Soulier syndrome, type A2, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.
Definition from the Mondo Disease Ontology (MONDO:0007930), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- 3 of 3 reported patients
- Increased mean platelet volumeHPOHP:0011877
- 4 of 4 reported patients
- MenorrhagiaHPOHP:0000132
- 2 of 2 reported patients · Female
- Prolonged bleeding after dental extractionHPOHP:0006298
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 4 of 4 reported patients
- EpistaxisHPOHP:0000421
- 2 of 3 reported patients
- Impaired ADP-induced platelet aggregation
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GP1BAHGNC:4439
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: Bernard-Soulier syndrome, type A2, autosomal dominant
- Also called
- Bernard-Soulier syndrome, type A2 (dominant)BSSA2