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Bernard-Soulier syndrome
Summary
- Synonym
-
- Bernard - Soulier thrombopathy
- Bernard Soulier syndrome
- Giant platelet syndrome
- Hemorrhagic dystrophic thrombocytopenia
- Thrombopathy, Bernard-Soulier
- Definition
- A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
- Super Class
- autosomal recessive disease blood coagulation disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04275 | von Willebrand factor | |
| P07359 | Platelet glycoprotein Ib alpha chain | |
| P13224 | Platelet glycoprotein Ib beta chain | |
| P14770 | Platelet glycoprotein IX |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35930 | Platelet glycoprotein Ib alpha chain | |
| P56400 | Platelet glycoprotein Ib beta chain |
