Case1: Male, 67, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978 Bruising susceptibility (From previously published PMID: 9226191)

CaseHPOFreeText: Moderate bleeding tendency

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: Platelets failed to aggregate and bind to fibrinogen in response to ADP, collagen, and thrombin but were able to support a subnormal clot retraction and the amount of αIIbβ3 complexes was estimated to be about 50% of the normal value (From previously published PMID: 9226191)

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2332T>C (p.Ser778Pro) (See Table 1)

LegacyVariant: p.Ser752Pro

ClinVar: 13556

CAiD: CA123230

gnomAD: N/A

PreviouslyPublished: PMID: 9226191

Case1: Male, 67 years old, ethnicity not specified (although lives in Argentina)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo:

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0100749 (Bruising, chest pain)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: Platelets fail to aggregate and bind to fibrinogen in response to ADP, collagen and thrombin

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2332T>C (p.Ser778Pro)

LegacyVariant: (p.Ser752Pro)

ClinVar: 13556

CAiD: CA123230

gnomAD: N/A

Case1: (Patient P), age and ethnicity not specified (cannot access previously published article where patient information is detailed: (Caen, J. P., Rosa, J.-P., Soria, C. & Boizard, B. (1983) C. R. Acad. Sci. Ser. 2 29, 479-481)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: See pedigree in Fig. 5

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Exhibited lifelong bleeding tendency

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: See Table 1

PlateletAggregation: Failure of platelets to aggregate and to bind fibrinogen in response to agonists such as ADP, collagen or thrombin

CasePreviousTesting: Sequenced the cytoplasmic domain of ITGB3 following PCR on the platelet RNA

Gene: ITGB3

Variant: NM_000212.2:c.2332T>C (p.Ser778Pro)

LegacyVariant: (p.Ser752Pro)

ClinVar: 13556

CAiD: CA123230

gnomAD: N/A

PreviouslyPublished: PMID: 6223690 (this article is not available on through UNC Libraries and there is no option to request the text either)

Case1: Male, elderly (specific age not specified), from Argentina (specific ethnicity not specified)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Mild bleeding disorder

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed patient's platelet aIIbb3 content was 40–50% of the usual range

PlateletAggregation: Platelets failed to aggregate with all physiological agonists including thrombin

CasePreviousTesting: N/A

Gene: ITGB3

Variant: NM_000212.2:c.2332T>C (p.Ser778Pro)

LegacyVariant: (p.Ser752Pro)

ClinVar: 13556

CAiD: CA123230

gnomAD: N/A

PreviouslyPublished: Caen, 1985; Chenet al, 1992 (PMID's not available at this time, go to these articles from this curated paper)