Case#: Female, 29 yo

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Figure 2 Father and brother, unaffected carriers. Mother, unaffected negative. Sister, affected: Epistaxis, Cutaneous bleeding, Menorrhagia, Hematuria, Postpartum bleeding, Other bleeding symptoms (Ruptured corpus luteum bleeding)

ParentalGenotype: Father carrier, unaffected. Mother negative, unaffected.

CasePresentingHPOs: HP:0000421, Epistaxis. HP:0000132, Menorrhagia. HP:0000790, Hematuria. HP:0003540, Impaired platelet aggregation. HP:0001892, Abnormal bleeding. HP:0003010, Prolonged bleeding time. HP:0034263, Abnormal vaginal bleeding.

PlateletAggregation: Normal platelet morphology, count 159 (125-350), MPV 10.6 fL (6.5-12.0), and PDW 12% (19-17). Decreased platelet aggregation: ADP 29.7& (30-70), Collagen 14.5% (30-70), AA 14.5% (40-80). Normal response to ristocetin, 88.7% (40-80). Thromboelastography (TEG) examination: hypocoagulable.

CaseHPOFreeText: Cutaneous bleeding, Postpartum bleeding, Blood accumulation in the uterine cavity, Bleeding in ovaries, Vaginal bleeding during pregnancy,

CaseNotHPOs: HP:0011875, Abnormal platelet morphology. HP:0011873, Abnormal platelet count.

ProteinExpression: Protein structure model: destroyed local beta folding structure and molecular changes to structure of GPII beta helical region reduces the expression of GP IIb/IIIa. Proband refused further testing (flow cytometry).

Gene: ITGA2B

Variant: c.2822G>A, p. (Trp941Ter)

HGVS: NM_000419.5:c.2822G>A

ClinVar: absent

CAID: CA399791662

gnomAD: 0.00 https://gnomad.broadinstitute.org/variant/chr17-44375017-C-T?dataset=gnomad_r4