Bernard-Soulier syndrome
Findings
No curated finding names Bernard-Soulier syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Definition from the Mondo Disease Ontology (MONDO:0009276), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 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
- 11 of 11 reported patients
- Obligate (100% of cases)
- MacrothrombocytopeniaHPOHP:0040185
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient · Congenital onset
- Abnormal bleedingHPOHP:0001892
- Congenital onset
- Very frequent (80% to 99% of cases)
- Decreased platelet glycoprotein Ib-IX-VHPOHP:0011879
- Very frequent (80% to 99% of cases)
- Giant plateletsHPOHP:0001902
Show the remaining 13
- Abnormal megakaryocyte morphologyHPOHP:0012143
- Occasional (5% to 29% of cases)
- Bruising susceptibilityHPOHP:0000978
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- HematemesisHPOHP:0002248
- Occasional (5% to 29% of cases)
- Macroscopic hematuriaHPOHP:0012587
- Occasional (5% to 29% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Occasional (5% to 29% of cases)
Genes
3 genes
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
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- GP1BBHGNC:4440
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Bernard-Soulier syndrome
- Also called
- giant platelet disorder, isolatedgiant platelet syndromeHemorrhagiparous thrombocytic dystrophy