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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 10-11-2009
Symbol GP1BA
Location 17p13.2
Name giant platelet syndrome 1A
Other name(s) Bernard-Soulier syndrome A
Corresponding gene GP1BA
Other symbol(s) BSS
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
    Related entries including Bolzano type, and Mediterranean macrothrombocytopenia (OMIM153670)
    Function/system disorder hematology
    Type disease
  • associated in some cases with GP9 and GP5 deficiencies, and Willebrand disease, platelet type
  • Genotype/Phenotype correlations null expression of the mutant GPIbalpha causes decreased density of the complex and results in macrothrombocytopenia