Bernard-Soulier Syndrome (BSS)

Bernard-Soulier综合征(来自ICD-11)

别称:

Giant Platelet Syndrome

Von Willebrand Factor Receptor Deficiency

Hemorrhagiparous Thrombocytic Dystrophy

Platelet Glycoprotein Ib Deficiency

Bernard-Soulier Syndrome, Type A1

Bernard-Soulier Syndrome, Type B

Bernard-Soulier Syndrome Type C

Bernard Soulier Syndrome

Bdplt1

Bss

Glycoprotein Ib, Platelet, Deficiency of

Deficiency of Platelet Glycoprotein 1b

Bleeding Disorder, Platelet-Type, 1

Giant Platelet Disorder, Isolated

Macrothrombocytopenia, Familial, Bernard-Soulier Type

Macrothrombocytopenia, Familial Bernard-Soulier Type

Hemorrhagioparous Thrombocytic Dystrophy

Hemorrhagic Dystrophic Thrombocytopenia

Bleeding Disorder Platelet-Type 1

Bernard-Soulier Syndrome, Type C

Bernard-Soulier Syndrome Type A1

Bernard-Soulier Syndrome Type B

Bernard - Soulier Thrombopathy

Thrombopathy, Bernard-Soulier

Giant Platelet Disease

Gpd

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

伯纳德-苏利尔综合症，又称巨大血小板综合症，与伯纳德-苏利尔综合症、A2型、常染色体显性遗传和血小板无力症有关。与伯纳德-苏利尔综合症有关的重要基因是GP9（血小板糖蛋白IX），其相关通路/超级通路包括传染病和信号转导。附属组织包括皮肤和肾脏，相关表型包括ristocetin诱导的血小板聚集障碍和异常出血。

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