Bernard-Soulier syndrome

Term ID

DOID:2217

Synonyms

• Bernard - Soulier thrombopathy
• Bernard Soulier syndrome
• Giant platelet syndrome
• Hemorrhagic dystrophic thrombocytopenia
• Thrombopathy, Bernard-Soulier

Definition

A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (4)

References

• MESH:D001606
• NCI:C84595
• OMIM:231200
• ORDO:274
• SNOMEDCT_US_2023_03_01:54569005
• UMLS_CUI:C0005129

Ontology

Human Disease   ( DOID:2217 )