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GENATLAS PHENOTYPE

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

Remark(s)

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