thrombasthenia of Glanzmann and Naegeli
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
bleeding disorder |
| gptkbp:alsoKnownAs |
gptkb:Glanzmann_thrombasthenia
|
| gptkbp:defectIn |
platelet aggregation
|
| gptkbp:deficiencyCauses |
gptkb:glycoprotein_IIb/IIIa_complex
|
| gptkbp:diagnosedBy |
platelet function tests
|
| gptkbp:firstDescribed |
gptkb:Eduard_Glanzmann
1918 |
| https://www.w3.org/2000/01/rdf-schema#label |
thrombasthenia of Glanzmann and Naegeli
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ITGA2B gene
ITGB3 gene |
| gptkbp:OMIM |
273800
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
easy bruising
prolonged bleeding menorrhagia nosebleeds gum bleeding |
| gptkbp:treatment |
gptkb:recombinant_factor_VIIa
platelet transfusion |
| gptkbp:bfsParent |
gptkb:Glanzmann_thrombasthenia
|
| gptkbp:bfsLayer |
7
|