|
gptkbp:instanceOf
|
gptkb:rare_disease
gptkb: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
|
|
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:platelet_function_disorders
gptkb:Hemab_Therapeutics
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Glanzmann thrombasthenia
|