Macrothrombocytopenia with defective platelet adhesion due to GPIb-IX-V deficiency.
- Specialty
- Hematology
- Subspecialty
- Hematology / Platelet disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- GP1BA, GP1BB, GP9
- Alternative names & eponyms
- Giant platelet syndrome
Etiology & mechanism
Loss of von Willebrand factor receptor.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with Bernard–Soulier syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Antiphospholipid syndrome
thrombocytopenia
1 shared
Atypical hemolytic uremic syndrome
thrombocytopenia
1 shared
Dengue shock syndrome
thrombocytopenia
1 shared
HELLP syndrome
thrombocytopenia
1 shared
Hemolytic uremic syndrome
thrombocytopenia
1 shared
Hemorrhagic fever with renal syndrome
thrombocytopenia
1 shared
Jacobsen syndrome
thrombocytopenia
1 shared
Kasabach–Merritt syndrome
thrombocytopenia
1 shared
Paris–Trousseau syndrome
thrombocytopenia
1 shared
Scott syndrome
epistaxis
Shares genes with
None.
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