Case#: 13 yo, Female

DiseaseAssertion: GT

FamilyInfo:

CasePresentingHPOs: (HP:0002249) Melena; (HP:0002248) Hematemesis

PlateletAggregation: Prothrombin time: 20, Partial thromboplastin time: 28, Platelet function analyzer-100: >300

CaseHPOFreeText: gastric and jejunum angiodysplasia

ProteinExpression: Flow cytometry: CD41 and 61 <50%

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGB3

HGVS: NM_000212.3:c.2111_2112del

ClinVar:

CAID: CA3062865178

gnomAD:

Case#: 11 yo, Female

DiseaseAssertion: GT

FamilyInfo: No family hx. No pedigree.

CasePresentingHPOs: (HP:0002249) Melena; (HP:0000421) Epistaxis; (HP:0000225) Gingival bleeding; (HP:0100769) Synovitis; (HP:0005261) Joint hemorrhage, right ankle; (HP:0001891) Iron deficiency anemia;

PlateletAggregation: Prothrombin time: 11, Partial thromboplastin time: 26, Platelet function analyzer-100: >300

CaseHPOFreeText: stable intestinal angiodysplasia

ProteinExpression: Flow cytometry: CD41 and 61 <50%

CasePreviousTesting: Molecular sequencing, Patients’ information was obtained from the medical record system of the Madinah Hereditary Blood Disorders Center, Maternity and Children Hospital, King Fahd Hospital, Al Madinah, Saudi Arabia.

Gene: ITGB3

HGVS: NM_000212.3:c.2111_2112del

ClinVar:

CAID: CA3062865178

gnomAD: