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466 Possible Causes for Bernard-Soulier Syndrome

  • Thrombocytopenia

    syndrome AD/AR 9 73 GP1BB Giant platelet disorder, isolated, Bernard-Soulier syndrome AD/AR 5 53 GP9 Bernard-Soulier syndrome AR 6 42 HOXA11 Radioulnar synostosis with amegakaryocytic[blueprintgenetics.com] Thrombocytopenia /absent radii (TAR syndrome) - radial aplasia or hypoplasia and thrombocytopenia. Bernard-Soulier syndrome (BSS).[patient.info] Examples of the conditions and genes covered by the panel are MYH9 -related diseases (autosomal dominant), Bernard-Soulier syndrome ( GP1BA, GP1BB, GP9 ; autosomal recessive[blueprintgenetics.com]

  • Autosomal Dominant Macrothrombocytopenia

    GPIbalpha, together with other proteins, constitutes the plasma von Willebrand factor (vWF) receptor, which is altered in Bernard-Soulier syndrome (BSS).[ncbi.nlm.nih.gov] Pagina 103 - Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and[books.google.ro] A Bernard-Soulier registry can also be found at Bernard-Soulier syndrome web site [ 16 ].[ojrd.biomedcentral.com]

  • Inherited Platelet Disorder

    Abstract Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner.[ncbi.nlm.nih.gov] Spectrum of the mutations in Bernard-Soulier syndrome. Human Mutation 2014; 35: 1033-1045.[rarediseases.org] Bernard-Soulier Syndrome Glanzmann Thrombasthenia Storage Pool Deficiencies[hacacares.org]

  • Severe Autosomal Recessive Macrothrombocytopenia

    A Bernard-Soulier registry can also be found at Bernard-Soulier syndrome web site [ 16 ].[ojrd.biomedcentral.com] Spectrum of the mutations in Bernard-Soulier syndrome. Human Mutation 2014; 35: 1033-1045.[rarediseases.org] (Bernard Soulier syndrome) 698 results 22q and two: 22q11.2 deletion syndrome and coexisting conditions.[unboundmedicine.com]

  • Glanzmann Thrombasthenia

    […] platelet disorder, isolated, Bernard-Soulier syndrome AD/AR 5 53 GP9 Bernard-Soulier syndrome AR 6 42 HPS1 * Hermansky-Pudlak syndrome AR 28 55 HPS3 * Hermansky-Pudlak syndrome[blueprintgenetics.com] Summary The inherited platelet glycoprotein deficiencies, Glanzmann thrombasthenia (GT) and Bernard Soulier syndrome (BSS) are rare but important long‐term bleeding disorders[onlinelibrary.wiley.com] BernardSoulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, Berndt, Michael C.; Andrews, Robert K. (1 March 2011). "Bernard-Soulier syndrome".[en.wikipedia.org]

  • Bernard-Soulier Syndrome

    […] thrombocytopenia Thrombopathy, Bernard-Soulier Giant platelet syndrome edit English Bernard-Soulier syndrome Human disease Bernard - Soulier thrombopathy Bernard Soulier[wikidata.org] Bernard-Soulier syndrome is caused by mutations in one of three genes: GP1BA, GP1BB, or GP9.[ghr.nlm.nih.gov] Bernard-Soulier syndrome is a very rare autosomal recessive disorder of impaired clotting.[symptoma.com]

  • Platelet Storage Pool Deficiency

    Spectrum of the mutations in Bernard-Soulier syndrome. Human Mutation 2014; 35: 1033-1045.[rarediseases.org] Differential diagnosis Differential diagnosis includes other platelet disorders such as macrothrombocytopenias (Bernard-Soulier syndrome, MYH9-related thrombocytopenia, macrothrombocytopenia[orpha.net] Most of the time, people with these disorders have a family history of a bleeding disorder, such as: Bernard-Soulier syndrome occurs when platelets lack a substance that sticks[medlineplus.gov]

  • Aspirin-induced Platelet Defect

    Inherited thrombocytopathies include von Willebrand disease ; thrombasthenia, characterized by abnormal clot retraction and defective platelet aggregation; and Bernard-Soulier[britannica.com] ADP receptor defect Aggregation defect P2YR12 n/a Bernard-Soulier syndrome Adhesion disorder with deficiency or dysfunction of platelet glycoprotein Ib/IX/V complex GP1BA,[arupconsult.com] Soulier syndrome Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type Cyclooxygenase deficiency Decreased platelet life span Dense body defect Drug induced[icd9data.com]

  • Bleeding Diathesis

    We present a case of recurrent epistaxis in a patient with Bernard-Soulier syndrome (a platelet disorder) and describe a non-invasive but effective method of closing the nasal[ncbi.nlm.nih.gov] […] thrombocytopenia was the commonest (74.8%), and inherited conditions represent (25.2%) in the following order: Glanzman's thrombasthenia (11.2%), von Willebrand disease (6.6%), Bernard-Soulier[ncbi.nlm.nih.gov] -Deficiency (thrombocytopenia) or functional abnormality of platelets such as congenital (Glanzmann thrombasthenia, Bernard-Soulier syndrome, storage pool disorders, etc)[mayomedicallaboratories.com]

  • Bleeding Diathesis due to a Collagen Receptor Defect

    ADP receptor defect Aggregation defect P2YR12 n/a Bernard-Soulier syndrome Adhesion disorder with deficiency or dysfunction of platelet glycoprotein Ib/IX/V complex GP1BA,[arupconsult.com] , May-Hegglin anomaly Gray platelets Slightly enlarged gray platelets seen in Bernard-Soulier syndrome or alpha-granule deficiency (Gray platelet syndrome) Platelet clumps[uab.edu] Individuals with Bernard-Soulier syndrome typically have moderately severe thrombocytopenia (40,000 to 100,000/ul) with uniformly large, granulated platelets.[mlo-online.com]

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