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platelet-type bleeding disorder 3
Summary
- Synonym
-
- BDPLT3
- PT-VWD
- platelet type-von Willebrand disease
- pseudo-von Willebrand disease
- von Willebrand disease platelet-type
- Definition
- A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111056
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 821 | CANX | calnexin | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 2923 | PDIA3 | protein disulfide isomerase family A member 3 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06744 | Glucose-6-phosphate isomerase | |
| P16442 | Histo-blood group ABO system transferase | |
| P27824 | Calnexin | |
| P30101 | Protein disulfide-isomerase A3 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
