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GTR Home > Conditions/Phenotypes > Bernard-Soulier syndrome, type A2, autosomal dominant

Bernard-Soulier syndrome, type A2, autosomal dominant

Synonyms
Bernard-Soulier syndrome, type A2 (dominant)

Summary

Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001). Genetic Heterogeneity of Bernard-Soulier Syndrome Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200). [from OMIM]

Available tests

32 tests are in the database for this condition.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP, GP1BA
    Summary: glycoprotein Ib platelet subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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