Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
bleeding disorder |
| gptkbp:affects |
platelets
|
| gptkbp:causedBy |
mutations in ITGA2B gene
mutations in ITGB3 gene |
| gptkbp:characterizedBy |
prolonged bleeding
defective platelet aggregation mucocutaneous bleeding |
| gptkbp:compatibleWith |
deficiency of coagulation factors
deficiency of platelet count |
| gptkbp:deficiencyCauses |
gptkb:glycoprotein_IIb/IIIa_complex
|
| gptkbp:diagnosedBy |
flow cytometry
platelet aggregation studies |
| gptkbp:firstDescribed |
gptkb:Eduard_Glanzmann
1918 |
| gptkbp:hasOrphanetID |
ORPHA:334
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glanzmann thrombasthenia
|
| gptkbp:ICD-10_code |
D69.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D013836
|
| gptkbp:OMIM |
273800
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
easy bruising
menorrhagia nosebleeds prolonged bleeding after injury gum bleeding |
| gptkbp:synonym |
gptkb:thrombasthenia_of_Glanzmann_and_Naegeli
hereditary hemorrhagic thrombasthenia |
| gptkbp:treatment |
gptkb:recombinant_factor_VIIa
antifibrinolytic agents platelet transfusion |
| gptkbp:bfsParent |
gptkb:CD41
gptkb:CD61 gptkb:Glycoprotein_IIb/IIIa gptkb:Primary_hemostasis |
| gptkbp:bfsLayer |
6
|