Phenotypes for disease #00143 (BSS (Bernard-Soulier syndrome), OMIM:231200)

16 entries on 1 page. Showing entries 1 - 16.
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Individual ID     
0000155932 Bernard-Soulier syndrome Familial, autosomal dominant - BSSA-1 - - - thrombocytopenia, increased mean platelet volume - Johan den Dunnen 00208162
0000155933 Bernard-Soulier syndrome Familial, autosomal dominant - BSSA-1 - - - thrombocytopenia, increased mean platelet volume - Johan den Dunnen 00208163
0000155934 Bernard-Soulier syndrome Familial, autosomal dominant - BSSA-1 - - - thrombocytopenia, increased mean platelet volume - Johan den Dunnen 00208164
0000155935 Bernard-Soulier syndrome Familial, autosomal dominant - BSSA-1 - - - thrombocytopenia, increased mean platelet volume - Johan den Dunnen 00208165
0000155953 Bernard-Soulier syndrome Familial, autosomal dominant - - - - - - - Johan den Dunnen 00208183
0000155961 Bernard-Soulier syndrome Unknown - - - - - - - Johan den Dunnen 00208191
0000155966 Bernard-Soulier syndrome Unknown - - - - - - - Johan den Dunnen 00208196
0000155969 Bernard-Soulier syndrome Unknown - - - - - - - Johan den Dunnen 00208199
0000155970 Bernard-Soulier syndrome Unknown - - - - - - - Johan den Dunnen 00208200
0000155971 Bernard-Soulier syndrome Unknown - - - - - - - Johan den Dunnen 00208201
0000157602 - Familial, autosomal dominant - BSS - - - see paper; ... - Johan den Dunnen 00208997
0000157603 - Familial, autosomal dominant - BSS - - - see paper; ... - Johan den Dunnen 00208998
0000157604 BSS Familial, autosomal recessive 05y - - - - see paper; BSS, cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect, ... - Johan den Dunnen 00208999
0000157605 - Familial, autosomal recessive - - - - - see paper; ... - Johan den Dunnen 00209000
0000243163 mild low macrothrombocytopenia Familial, autosomal recessive 59y heterozygous disease-causing variant 59y 59y BSS carrier 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. GPIba Adriana Ines Woods 00324662
0000296457 macrothrombocytopenia Familial, autosomal recessive - BSS - - ecchymosis, bleeding after cesarean section (ISTH-BAT=6); 72x109/L platelets; MPV=18.7fL brother: BSS carrier; daughter and sister with macrothrombocytopenia, and bleeding symptoms GPIba Adriana Ines Woods 00403752
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