Bernard-Soulier syndrome

Common Name(s)

Bernard-Soulier syndrome, Giant Platelet Syndrome

Bernard-Soulier syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a rare disorder that prevents a person from being able to stop bleeding after an injury or surgery. A portion of our blood is made up of platelets, which are cells that help blood to clot and therefore stops bleeding. While people affected by Benard-Soulier syndrome have large platelets, they do not have enough. This means that something as small as a paper cut will not stop bleeding for hours. Other symptoms of people affected with Bernard-Soulier syndrome are bleeding gums (the area around your teeth), easy bruising, and heavy menstrual periods. Talk with your doctor to find the best treatment if you or a loved one has been diagnosed with Bernard-Soulier syndrome.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bernard-Soulier syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bernard-Soulier syndrome" returned 55 free, full-text research articles on human participants. First 3 results:

Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
 

Author(s): Lourdes Lopez-Onieva, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real

Journal: Stem Cell Res. 2017 04;20():10-13.

 

Bernard Soulier Syndrome (BSS) is a rare autosomal platelet disorder characterized by mutations in the von Willebrand factor platelet receptor complex GPIb-V-IX. In this work we have generated an induced pluripotent stem cell (BSS3-PBMC-iPS4F8) from peripheral blood mononuclear cells ...

Last Updated: 31 Dec 1969

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Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.
 

Author(s): Lourdes Lopez-Onieva, Candela Machuca, Mar Lamolda, Rosa Montes, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real

Journal: Stem Cell Res. 2016 11;17(3):603-606.

 

Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). ...

Last Updated: 31 Dec 1969

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Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.
 

Author(s): Lourdes Lopez-Onieva, Rosa Montes, Mar Lamolda, Tamara Romero, Verónica Ayllon, Maria Luisa Lozano, Vicente Vicente, José Rivera, Verónica Ramos-Mejía, Pedro J Real

Journal: Stem Cell Res. 2016 05;16(3):692-5.

 

We generated an induced pluripotent stem cell (iPSC) line from a Bernard-Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bernard-Soulier syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
 

Author(s): François Lanza

Journal:

 

Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare ...

Last Updated: 31 Dec 1969

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Bernard-Soulier syndrome.
 

Author(s): J A López, R K Andrews, V Afshar-Kharghan, M C Berndt

Journal: Blood. 1998 Jun;91(12):4397-418.

 

Last Updated: 31 Dec 1969

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An acquired-pseudo Bernard Soulier syndrome occurring with autoimmune chronic active hepatitis and anti-cardiolipin antibody.
 

Author(s): I L Beales

Journal: Postgrad Med J. 1994 Apr;70(822):305-8.

 

A case of autoimmune chronic active hepatitis with unusual extrahepatic manifestations is described. The patient exhibited marked thrombocytopenia and platelet aggregation dysfunction and morphological changes suggesting an acquired Bernard Soulier-type syndrome. This has not previously ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.