Case1: Male, 14 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia type 1

FamilyInfo: Sister is also heterozygous for this mutation but shows no bleeding symptoms

ParentalGenotype: Both parents are heterozygous for this mutation

Note: There is parental consanguinity

CasePresentingHPOs: HP:0000967, HP:0000225, HP:0000421

(Petechiae, ginigival bleeding, epistaxis)

CaseHPOFreeText: Haematoma,

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry analysis revealed 3.8 % platelet surface presentation of the αIIbβ3 complex for patient 1 and αIIb was not detected and β3 was significantly reduced in Western blots. Platelets from GT patients showed less than 5 % relative levels of the integrin subunit IIb and 5–9 % fibrinogen compared to controls.

PlateletAggregation: Article states agonist-induced platelet aggregation and binding of exogenous fibrinogen was pathological, too but does not mention specific agonists used or response to ristocetin

CasePreviousTesting: Molecular genetic analysis was done; however, no other information mentioned. In addition, the global proteome of highlight purified washed platelets was quantified by liquid chromatography-mass spectrometry and targeted MS-methods.

Gene: ITGA2B

Variant: NM_000419.3:c.175del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940266

gnomAD: N/A