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GENATLAS PHENOTYPE

last update : 10-11-2009

Symbol	GP1BC
Location	3q21.3
Name	giant platelet syndrome 1C
Other name(s)	Bernard-Soulier syndrome C
Corresponding gene	GP9
Other symbol(s)	BBS
Main clinical features	bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib, including GP9), characterized by mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	hematology
Type	disease

Gene product

Name	glycoprotein GPIX (GP9)

Remark(s)