Case1: 39 years old, Female, Jewish Iraqi

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: All patients demonstrated lack of αIIbβ3 surface expression." No specifics are given on the percentage, but test was performed

PlateletAggregation: Presented with mucocutaneous bleeding, absence of platelet aggregation in response to all physiological agonists in contrast to normal aggregation with ristocetin

CasePreviousTesting: "Molecular analysis disclosed that patient 2 was homozygous for an out of frame mutation (c.2031–2041 del, exon 13) in ITGB3, and patient 4 was compound heterozygote for the same deletion and a large deletion of 11.2Kb del"

Gene: ITGB3

Variant: NM_000212.2:c.2051_2061del (c.2051_2061del)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940226

gnomAD: N/A

Case1: Female, 3 year old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: An analysis of family members indicated that the Gln517Stop and Arg553Stop mutations were located on different alleles and inherited from the patient’s mother and father, respectively

CasePresentingHPOs: HP:0004406, HP:0002248, HP:0000978, HP:0000225

(Recurrent epistaxis, hematemesis, easy bruising, gingival bleeding)

CaseHPOFreeText: Petechial hemorrhages

CaseNotHPOs: HP:0001945, HP:0002014, HP:0005261

Fever, diarreah, hemarthrosis

CaseNotHPOsFreeText: N/A

ProteinExpression: A flow cytometry evaluation revealed marked reduction in glycoprotein IIb/IIIa (See Table 1 for Patient's Lab results)

PlateletAggregation: Patients platelets did not aggregate in response to ADP, epinephrine, arachidonic acid, or collagen but platelets had normal ristocetin induced aggregation

CasePreviousTesting: Molecular genetic analysis of ITGA2B was performed which revealed mutations

Gene: ITGA2B

Variant: NM_000419.3:c.1642C>T (p.Gln548Ter) and NM_000419.3:c.1750C>T (Arg584Ter)

LegacyVariant: Gln517Ter and Arg553Ter

ClinVar: 2892

CAiD: CA399802364 and CA115834

gnomAD: MAF in the East Asian population is 0.0002176