Bernard–Soulier syndrome

Also known as: Giant platelet syndrome

Macrothrombocytopenia with defective platelet adhesion due to GPIb-IX-V deficiency.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: GP1BA, GP1BB, GP9

Etiology & mechanism

Loss of von Willebrand factor receptor.

Gene(s) involved (3)

GP1BAGP1BBGP9

Symptoms & signs (6)

epistaxislarge plateletsmenorrhagiamucocutaneous bleedingprolonged bleeding timethrombocytopenia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.