Bernard-Soulier Syndrome (BSS)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bernard-Soulier Syndrome, also known as giant platelet syndrome, is related to bernard-soulier syndrome, type a2, autosomal dominant and thrombasthenia. An important gene associated with Bernard-Soulier Syndrome is GP9 (Glycoprotein IX Platelet), and among its related pathways/superpathways are Infectious disease and Signal Transduction. Affiliated tissues include skin and kidney, and related phenotypes are impaired ristocetin-induced platelet aggregation and abnormal bleeding

Related ID：

MALACARDS：BRN019

OMIM：231200

MESH：D001606