Case1: Adopted black teenage male with type I Glanzmann's thrombasthenia. Age not specified.

DiseaseAssertion: Type 1 Glanzmann's thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421 (Epistaxis), HP:0000225 (Gingival bleeding)

CaseHPOFreeText: Moderate bleeding

CaseNotHPOs: N/A

PlateletAggregation: Absence of platelet aggregation after stimulation with epinephrine, collagen, and ADP.

ProteinExpression: Immunoblot analysis of GPIIb and GPIIIa confirmed thrombasthenic phenotype.

CasePreviousTesting: Initial Western Blot analysis of platelet proteins from this patient did not detect any GPIIb, but did detect small amounts of GPIIIa of normal mobility. Quantification of vitronectin receptor (VNR) demonstrated that this patient had ~ 1.5-2 times the number of these receptors per platelet compared with controls. Genomic Southern Blot studies showed a deletion in the GPIIb gene with ~4.5 kb. PCR studies using platelet RNA and oligonucleotides suggested the deletion of exons 2-9 does not significantly decrease levels of GPIIb mRNA.

Gene: ITGA2B

Variant: 4.5-KB DEL, EX2-9

LegacyVariant: N/A

ClinVar: 2890

CAiD: N/A

gnomAD N/A

Case1: Patient KW (this patient can be found in the GT database)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225

(Epistaxis, gingival bleeding)

CaseHPOFreeText: Blood transfusions needed

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Surface expression of GPIIb/GPIIIa not reported for this patient

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: 4.5-KB DEL, EX2-9

LegacyVariant: N/A

ClinVar: 2890

CAiD: N/A

gnomAD: N/A

PreviouslyPublished: PMID: 1702098