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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 10-11-2009
Symbol GP1BB
Location 22q11.21
Name giant platelet disorder 1B
Other name(s) Bernard-Soulier syndrome B
Corresponding gene GP1BB
related resource Bernard-Soulier Syndrome database
Other symbol(s) BBS
Main clinical features
  • mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia, platelets are large, and there is no platelet aggregation in response to ristocetin or addition of von Willebrand factor
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name platelet glycoprotein 1B, beta, GATA binding site (GP1BB)