Phenotype #0000243163

Individual ID	00324662
Associated disease	BSS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	mild low macrothrombocytopenia
Age/Examination	59y (59 years)
Diagnosis/Definite	heterozygous disease-causing variant
Age/Diagnosis	59y
Age/Onset	59y
Phenotype/Onset	BSS carrier
Phenotype details	reduced platelets count (121 x109/L), presence of macro-platelets, with a mean platelet volume of 10.9 fL (7-10.5 fL), slightly normal with a period of latency with 1.2 mg/mL RIPA. Remaining laboratory studies showed normal results, including platelet aggregation, clotting and fibrinolytic systems. GPIb and GPIIb-IIIa expression studies showed 50% of expression with CD42 and normal expression with both CD41 and CD61.
Protein	GPIba
Owner name	Adriana Ines Woods
Database submission license
Created by	Adriana Ines Woods
Date created	2020-12-21 16:11:17 +01:00 (CET)
Date last edited	2020-12-22 17:30:30 +01:00 (CET)

Global Variome shared LOVD